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Dermatology Board Prep > DERM (13) Metabolic and Systemic Disease > Dermatologic manifestations in patients w/ systemic disease > Flashcards

Dermatologic manifestations in patients w/ systemic disease Flashcards

1
Q

What are the cutaneous findings in Behçet’s disease?

A

Orogenital aphthous ulcers, pustular vasculitis, and pathergy

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2
Q

What systemic manifestations are seen in Behçet’s disease?

A

A/w pericarditis, coronary arteritis, valve disease, CNS vasculitis, and ocular disease (e.g. vasculitis, uveitis [panuveitis > posterior uveitis > anterior uveitis], vitritis, retinitis)

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3
Q

What are the cutaneous findings of Birt-Hogg-Dubé syndrome?

A

Fibrofolliculomas, trichodiscomas, perifollicular fibromas, and acrochordons; lesions most commonly affect head/neck; lesions tend to present in 30s–40s

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4
Q

What are the genetics of Birt-Hogg-Dubé syndrome?

A

Folliculin (FLCN) mutations (involved in mTOR signaling)

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5
Q

What are the associations seen in Birt-Hogg-Dubé syndrome?

A
  • Pulmonary cysts (most common; up to 90%) lead to spontaneous pneumothorax (30%)
  • Multiple renal carcinomas (15%, most commonly chromophobe renal carcinoma and oncocytoma)
  • Medullary thyroid cancers
  • +/- colon cancer
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6
Q

Cutaneous findings of Cardio-facio-cutaneous syndrome?

A

Coarse facies (long and broad), generalized ichthyosis- like scaling, keratosis pilaris, CALMs, nevi, and sparse curly hair

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7
Q

Genetics of Cardio-facio-cutaneous syndrome?

A

AD; RASopathy, mutations in BRAF (most commonly) and other MAPK mutations

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8
Q

Assocations of Cardio-facio-cutaneous syndrome?

A
  • A/w mental retardation, pulmonic stenosis, atrial septal defect, hypertrophic cardiomyopathy, and short stature
  • All RASopathies (CFC, NF1, Noonan, Costello syndromes, and LEOPARD) affect RAS/MAPK pathway and have similar clinical presentations → often need genetic tests to distinguish
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9
Q

Cutaneous findings in Carney complex (LAMB/NAME syndromes)?

A

LAMB = Lentigines, Atrial (and cutaneous) Myxomas, Blue nevi (classically epithelioid blue nevi)

NAME = Nevi, Atrial (and cutaneous) Myxomas, Ephelides

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10
Q

Genetics of Carney complex (LAMB/NAME syndromes)?

A

AD, mutations in PRKAR1A gene (subunit of protein kinase A)

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11
Q

Associations seen in Carney complex (LAMB/NAME syndromes)?

A

A/w variety of endocrine neoplasms;

most commonly affected = adrenal gland; p/w

primary pigmented nodular adrenocortical disease →

Cushing’s

Other endocrine abnormalities: pituitary adenomas and testicular cancer (Sertoli type)

A/w psammomatous melanotic schwannoma

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12
Q

What are the cutaneous findings in Carvajal syndrome?

A

Striate epidermolytic palmoplantar keratoderma; wooly scalp hair

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13
Q

Genetics of Carvajal syndrome?

A

AR, desmoplakin mutations

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14
Q

Associations seen in Carvajal syndrome?

A

A/w dilated left ventricular cardiomyopathy
* Mnemonic: “CarvajaL = Linear/striate PPK + Left ventricular cardiomyopathy”

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15
Q

Cutaneous findings of Churg-Strauss syndrome (allergic granulomatous angiitis)?

A

Skin involvement in 60%; LCV, urticaria, livedo reticularis, subcutaneous nodules, PNGD (palisaded neutrophilic granulomatous dermatitis), and extravascular granulomas

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16
Q

Associations of Churg-Strauss syndrome (allergic granulomatous angiitis)?

A

Most commonly a/w allergic rhinitis, severe asthma, peripheral eosinophilia of ≥10%, sinusitis, transient pulmonary infiltrates, and mononeuritis multiplex

  • Increased serum IgE levels
  • Most common causes of mortality: myocarditis and coronary arteritis
  • ANCAs detectable in 50%; p-ANCA (anti-MPO) ≫ c-ANCA (PR-3)
  • ANCAs less frequently positive compared with Wegener’s (50% vs ~100%)
  • May be a/w leukotriene inhibitors (montelukast and zafirlukast)
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17
Q

Cutaneous findings of Costello syndrome?

A

Lax skin on hands and feet, coarse facies, low-set ears, deep palmoplantar creases, periorificial papillomas, acanthosis nigricans, and curly hair

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18
Q

Genetics of Costello syndrome?

A

AD, one of the RASopathies; mutations in HRAS (85%) > KRAS (10%–15%)

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19
Q

Associations with Costello syndrome?

A
  • A/w mental and growth retardation, pulmonic stenosis, hypertrophic cardiomyopathy, and arrhythmias
  • Increased risk of rhabdomyosarcoma and transitional cell (bladder) CA
  • All RASopathies (CFC, NF1, Noonan, Costello syndromes, and LEOPARD) have similar clinical presentations –> need genetic tests to distinguish
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20
Q

Cutaneous findings of cutis laxa?

A

Loose, pendulous skin of face (esp. periocular and cheeks leading to “bloodhound facies”), neck, axillae, and thighs; skin lacks elastic recoil (vs EDS)

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21
Q

Genetics of cutis laxa?

A

Multiple forms:

  • AR: most common and most severe; Fibulin-5 (FBLN5)
  • AD: benign course; Elastin (ELN) > FBLN5 - XLR: ATP7A (copper transporter)
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22
Q

Associations of cutis laxa?

A

Occipital horn syndrome is the current name for XLR cutis laxa, (which was also formerly called Ehlers-Danlos type IX); OHS a mild variant of Menkes kinky hair syndrome

  • AR cutis laxa is most frequently a/w internal organ dysfunction and death:

Pulmonary: bronchiectasis, emphysema leading to right-sided heart failure

Cardiac: aortic dilation/rupture; right-sided heart failure

GI: diverticulae

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23
Q

Associations with dermatomyositis?

A

A/w ECG changes and pericarditis
- Cardiac involvement = poor prognostic sign; a/w

anti-SRP autoantibodies
- Pulmonary fibrosis a/w antisynthetase syndrome (Jo-1, PL7, and PL-12; autoantibodies target tRNA synthetase)

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24
Q

Cutaneous findings in Ehler-Danlos syndrome (classic form)?

A

Skin hyperelasticity, “cigarette paper” and “fish mouth” scars, ecchymoses, Gorlin sign, and molluscoid pseudotumors

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25
Q

Associations with Ehler-Danlos syndrome (classic form)?

A
  • A/w aortic root dilation, mitral and tricuspid prolapse or regurgitation
  • Identical cardiac findings may also be seen in hypermobility type of EDS (traditionally, EDS type III)
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26
Q

Cutaneous findings in Ehler-Danlos syndrome (vascular form/type IV)?

A

Thin, translucent skin w/ visible veins (most prominent on chest), diffuse bruising

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27
Q

Genetics of Ehler-Danlos syndrome (vascular form/type IV)?

A

AD; mutations in collagen III (COL3A1)

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28
Q

Associations with Ehler-Danlos syndrome (vascular form/type IV)?

A

Most dangerous form of EDS = risk of death from rupture of internal organs (arterial rupture > GI tract [esp. sigmoid colon], uterus [particularly in pregnancy])
- Arterial rupture sites: thorax/abdomen > head/neck> extermities

  • Most important feature is vascular fragility leading to arterial aneurysms, dissection, and rupture (Mnemonic: “IV = vascular”)
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29
Q

Cutaneous lesions of endocarditis?

A

Purpura, Janeway lesions (not painful; palms and soles), Osler’s nodes (painful; “Osler’s = Oww!”; fingers and toes) nail-fold infarction

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30
Q

Systemic manifestations of erythroderma?

A
  • A/w high-output cardiac failure
  • May be as a result of multiple dermatoses, CTCL, or drug eruptions
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31
Q

Cutaneous findings of Fabry disease?

A

Angiokeratoma corporis diffusum (angiokeratomas in “bathing suit distribution”), hypohidrosis, episodic pain in hands/feet (acroparesthesia), and whorled corneal opacities (cornea verticillata)

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32
Q

What are the genetics of Fabry disease?

A

XLR: GLA mutation leading to alpha-galactosidase deficiency

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33
Q

Associations with Fabry disease?

A

Most serious complications: atherosclerotic disease of CV and CNS leading to MI and stroke; chronic proteinuria leading to renal failure

α-galactosidase deficiency leads to increased globotriaosylceramide deposits in tissues leading to end-organ damage

  • “Maltese crosses” (birefringent lipid globules) seen on polarization of urine sediment
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34
Q

What are the cutaneous findings of hemochromatosis?

A

Diffuse bronze hyperpigmentation (melanin)

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35
Q

What is the gene mutation in hemochromatosis?

A

HFE mutation

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36
Q

What are the systemic associations with hemochromatosis?

A

A/w CHF (congestive heart failure), supraventricular arrhythmias, diabetes mellitus, and cirrhosis

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37
Q

What are the cutaneous findings of hereditary hemorrhagic telangiectasia?

A

Multiple macular/“mat-like” telangiectasias most commonly on lips, oral mucosa, and extremities

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38
Q

Genetics of hereditary hemorrhagic telangiectasia?

A

AD, mutations in genes involved in TGF-β transduction pathway:

HHT1 = endoglin (ENG)

HHT2 = Alk-1 (ACVRL1)

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39
Q

In what type of hereditary hemorrhagic telangiectasia is pulmonary disease most common in?

A

Type I > type II

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40
Q

Associations with hereditary hemorrhagic telangiectasia?

A

Epistaxis (often the initial symptom), AV malformations of lungs (HHT-1 most commonly), liver (HHT-2 most commonly) and CNS; recurrent upper GI hemorrhage

Mnemonic: “Alk-1 is a/w liver” (think of Alkaline phosphatase, which is found in liver)

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41
Q

What are the cutaneous findings of homocystinuria?

A

Livedo reticularis, malar rash, tissue-paper scars, diffuse pigment dilution, Marfanoid habitus, and ectopia lentis (downward lens dislocation)

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42
Q

Genetics of homocystinuria?

A

AR; caused by a variety of mutations leading to an increase in homocysteine levels in blood and urine; most common = cystathionine β-synthase (CBS gene)
* Other gene mutations: MTHFR, MTR, MTRR, and MMADHC

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43
Q

Associations with homocystinuria?

A
  • A/w atherosclerosis and vascular thrombosis (arterial + venous)
  • A/w mental retardation and seizures
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44
Q

What are the cutaneous findings in hyperlipoproteinemia type I?

A

Type I (familial LPL deficiency and hyperchylomicronemia): eruptive xanthomas

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45
Q

What are the cutaneous findings in hyperlipoproteinemia type II?

A

Type II (familial hypercholesterolemia): tendinous, tuberous, tuboeruptive, interdigital xanthomas (pathognomonic), and plane xanthomas

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46
Q

What are the cutaneous findings in hyperlipoproteinemia type III?

A

Type III (familial dysbetalipoproteinemia, “broad beta disease”): tendinous, tuberous, tuboeruptive xanthomas, and plane xanthomas of palmar creases (pathognomonic)

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47
Q

What are the cutaneous findings in hyperlipoproteinemia type IV?

A

Type IV (endogenous hypertriglyceridemia): eruptive xanthomas

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48
Q

What are the cutaneous findings in hyperlipoproteinemia type IV?

A

Type V: eruptive xanthomas

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49
Q

Genetics in hyperlipoproteinemia type I?

A

Type I: LPL deficiency and ApoC-II deficiency

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50
Q

Genetics in hyperlipoproteinemia type II?

A

Type II: LDL receptor defect and ApoB-100 defect

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51
Q

Genetics in hyperlipoproteinemia type III?

A

Type III: ApoE abnormality (results in decreased hepatic clearance)

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52
Q

Genetics in hyperlipoproteinemia type IV?

A

Type IV: Increased VLDL as a result of diabetes, alcoholism, and/or obesity

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53
Q

Genetics in hyperlipoproteinemia type V?

A

Type V: Increased chylomicrons and VLDL; as a result of diabetes

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54
Q

Associations with hyperlipoproteinemias?

A

Type I, type IV, and type V: acute pancreatitis (as a

result of increased TGs)

Type II and III: atherosclerosis= MI and stroke

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55
Q

Cutaneous findings in Kawasaki disease?

A

“Strawberry tongue,” cheilitis, polymorphous skin eruption (favors trunk), acral erythema/edema (w/ subsequent desquamation), conjunctival injection, and anterior uveitis

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56
Q

Associations with Kawasaki disease?

A

A/w coronary artery aneurysms (potentially fatal)
* High fever lasting ≥5 days, cervical lymphadenopathy, truncal rash, hand edema/desquamation, oral findings, and conjunctival injection are diagnostic features

  • Rx: high dose ASA and IVIG are essential to prevent coronary disease
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57
Q

Cutaneous findings of LEOPARD syndrome?

A

Lentigines (upper half of body; appear in childhood), CALMs, ocular hypertelorism (widely spaced eyes), low-set ears

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58
Q

Genetics of LEOPARD syndrome?

A

AD; is one of the RASopathies; most common mutation is PTPN11 gene (90%)

  • Less common mutations in MAPK pathway (10%): BRAF and RAF1
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59
Q

Associations with LEOPARD syndrome?

A

ECG abnormalities, pulmonary stenosis, abnormalities of genitalia (cryptorchidism #1, hypospadias), retardation of growth, and deafness

  • Hard to clinically distinguish from other RASopathies (CFC, NF1, Noonan, and Costello syndromes)
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60
Q

Cutaneous findings of lymphomatoid granulomatosis?

A

Dermal or SQ nodules +/− ulceration on trunk and extremities

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61
Q

Associations with lymphomatoid granulomatosis?

A
  • Frequently fatal (60% 5-year mortality), EBV-induced angiodestructive B-cell lymphoma

Classically p/w pulmonary + skin involvement

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62
Q

Cutaneous findings of Marfan syndrome?

A

Striae, long and narrow face, ectopia lentis (upward lens dislocation), myopia, arachnodactyly, and pectus excavatum

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63
Q

Genetics of Marfan syndrome?

A

AD, fibrillin-1 mutations

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64
Q

Associations with Marfan syndrome?

A

Mitral valve prolapse and regurgitation, aortic root dilation, and dissection of ascending aorta

Rx: β-blockers and ACE inhibitors to prevent aortic root dilation

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65
Q

Cutaneous findings of neonatal lupus erythematosus?

A

Nonscarring, nonatrophic SCLE-like annular plaques (most commonly periocular), and prominent telangiectasias

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66
Q

Associations with neonatal lupus erythematosus?

A

NLE a/w congenital heart block in up to 30% of pts (often irreversible; up to 30% mortality)

Caused by transplacental passage of maternal anti-Ro/ SSA antibodies (>anti-La/SSB > anti-U1RNP)

Mothers who have one child w/ NLE have 25% recurrence rate in subsequent pregnancies

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67
Q

Cutaneous findings in PHACES syndrome?

A

Segmental infantile hemangioma (most commonly frontotemporal), typically on face and neck

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68
Q

Associations in PHACES syndrome?

A

A/w coarctation of the aorta, atrial septal defect, and ventricular septal defect

P: posterior fossa malformations

H: hemangiomas

A: arterial anomalies

C: cardiac defects and coarctation of

the aorta

E: eye anomalies

S: sternal defects and supraumbilical raphe

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69
Q

Cutaneous findings in Naxos syndrome?

A

Diffuse nonepidermolytic palmoplantar keratoderma, wooly scalp hair

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70
Q

Genetics of Naxos syndrome?

A

AR, plakoglobin mutation

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71
Q

Associations with Naxos syndrome?

A

A/w arrhythmic right ventricular cardiomyopathy

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72
Q

Cutaneous findings in neurofibromatosis type I?

A

CALMs, axillary freckles (“Crowe’s sign”; seen in 30%; may involve neck and other intertriginous sites), multiple neurofibromas, and Lisch nodules (iris)

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73
Q

Genetics to neurofibromatosis type I

A

AD mutation in NF1 gene (neurofibromin)

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74
Q

Associations with neurofibromatosis type I?

A

HTN (essential and 2/2 pheochromocytoma)

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75
Q

Cutaneous findings of primary systemic amyloidosis (AL amyloidosis)?

A

Petechiae/pinch purpura most common skin finding; may also see shiny, translucent waxy papulonodules or plaques, alopecia, and macroglossia

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76
Q

Associations with primary systemic amyloidosis (AL amyloidosis)?

A

A/w restrictive cardiomyopathy, conduction abnormalities, and proteinuria

  • As a result of deposition of immunoglobulin light chains (AL) in skin and internal tissues; deposits stain pink-red w/ Congo red (apple-green birefringence on polarized light)
  • Primary systemic amyloidosis a/w skin findings in 30%
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77
Q

Does secondary amyloidosis lead to cutaneous findings?

A

NO

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78
Q

Cutaneous findings in progeria?

A

Sclerodermoid changes, characteristic facies (prominent eyes, thin beaked nose, protruding ears, and micrognathia), mottled hyperpigmentation, decreased SQ fat, andalopecia

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79
Q

Genetics of progeria?

A

AD; mutations in lamin A (LMNA gene; component of nuclear lamina)

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80
Q

Associations with progeria?

A

Most important association: premature death as a result of atherosclerosis, MI, or stroke

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81
Q

Associations with psoriasis?

A

Increased risk of cardiovascular, cerebrovascular, and peripheral arterial diseases; increased risk of metabolic syndrome

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82
Q

Cutaneous findings in relapsing polychondritis?

A

Intense erythema of cartilaginous portion of ears (spares earlobes) + inflammation of other cartilaginous tissues (nose and trachea)

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83
Q

Associations in relapsing polychondritis?

A
  • A/w tracheal and nasal collapse
  • A/w aortic insufficiency and dissecting aortic aneurysm
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84
Q

Cutaneous findings in rheumatic fever?

A

Erythema marginatum, subcutaneous nodules (similar to rheumatoid nodules), polyarthritis, chorea, and fever

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85
Q

Associations with rheumatic fever?

A

Acute phase: pericarditis

  • Chronic: mitral and aortic valve disease
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86
Q

Cutaneous findings in sarcoidosis?

A

Red-brown papules, nodules, and plaques w/ “apple jelly” color on diascopy; may arise in preexisting scars; lupus pernio (strongly a/w lung disease), EN (a/w acute bilateral hilar adenopathy and arthritis of ankles = Lofgren syndrome)

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87
Q

Associations with sarcoidosis?

A

Pulmonary: pulmonary artery HTN and interstitial lung disease

Cardiac: pericarditis and conduction defects; cardiac involvement a/w poor prognosis

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88
Q

Cutaneous findings of SLE?

A

Transient malar erythema; photosensitivity +/− DLE and SCLE lesions

If antiphospholipid antibodies present: necrotizing livedo reticularis, widespread cutaneous necrosis, and leg ulcers

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89
Q

Associations with SLE?

A

A/w Libman-Sacks endocarditis (nonbacterial), pericarditis, and coronary artery disease

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90
Q

Cutaneous findings in Wegener’s granulomatosis (granulomatosis with polyangiitis)?

A

Skin involvement in 50%; LCV, necrotizing cutaneous granulomas, pyoderma gangrenosum-like lesions (“malignant pyoderma”), friable ulcerative gingivae (strawberry gingivae), mucosal ulcerations, and “saddle nose”

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91
Q

Associations with Wegener’s granulomatosis (granulomatosis with polyangiitis)?

A

Severe (>90% mortality if untreated) multisystem necrotizing vasculitis

  • Most common systemic manifestations: respiratory tract (chronic sinusitis is most common presenting symptom of GPA); renal (segmental crescentic necrotizing glomerulonephritis)
  • c-ANCA (anti-Proteinase-3) autoantibodies in ~100% of pts by ELISA and IIF; detectable ANCAs more common in GPA than in Churg-Strauss (50%)
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92
Q

Cutaneous findings in Yellow nail syndrome?

A

Thick, slow-growing, highly curved, and yellow or yellow-green nails w/ onycholysis; absent cuticles and lunulae

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93
Q

Classic triad seen in yellow nail syndrome?

A

Yellow nails, lymphedema, and pulmonary disease (bronchiectasis and pleural effusions)

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94
Q

What are the associations with bullous diabeticorum?

A

Usually heals in 2 to 4 weeks

  • M>F
  • Treatment with supportive care
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95
Q

Associations with acanthosis nigricans?

A

Slow onset, usually manifests earlier in life

Can indicate insulin resistance and/or diabetes

More common in darkly pigmented individuals

Treatment includes improvement of insulin resistance,

topical retinoids, ammonium lactate, and calcipotriene

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96
Q

Cutaneous findings in granuloma annulare?

A

Often affects trunks and extensor limbs, or may be generalized and eruptive; p/w nonscaly, flesh-colored, pink, violaceous, or reddish-brown papules that can be grouped in an arcuate or annular pattern

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97
Q

Associations with granuloma annulare?

A

Usually asymptomatic and spontaneously resolves over months to years

DDx: NLD (favors lower legs), cutaneous sarcoidosis, lichen planus, and rheumatoid nodules

Rx: observation, topical steroids, intralesional steroids, cryotherapy, and phototherapy

May also be a/w hyperlipidemia

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98
Q

Cutaneous findings in carotenemia?

A

Diffuse orange-yellow discoloration

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99
Q

Cutaneous findings in scleredema diabeticorum?

A

Erythematous or skin-colored induration of upper back/neck

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100
Q

Associations with scleredema diabeticorum?

A

As a result of glycosaminoglycan deposition

Histology: square biopsy sign, pauci-cellular dermis

(vs increased cellularity in scleromyxedema), and widely spaced collagen bundles separated by mucin (best seen w/ colloidal iron)

May also be associated with Streptococcus infections and IgG-kappa monoclonal gammopathy

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101
Q

Cutaneous findings of acral erythema?

A

Erysipelas-like erythema of the hands and/or feet

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102
Q

Associations with acral erythema?

A

May be secondary to small vessel occlusive disease with compensatory hyperemia

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103
Q

What is diabetic dermopathy?

A

Small, oval, red-brown, atrophic macules and patches that are usually on the lower limbs

104
Q

Associations with diabetic dermopathy?

A

As a result of minor trauma and/or decreased skin perfusion from microangiopathy

  • Early recognition can help detect early presence of renal and retinal microangiopathy
105
Q

Cutaneous findings of necrobiosis lipoidica diabeticorum (NLD)?

A

Atrophic yellow-orange patches w/ red borders and telangiectasias +/− central ulceration, often on pretibial skin); lesions may ulcerate and heal with atrophic scars

106
Q

Associations with necrobiosis lipoidica diabeticorum (NLD)?

A

A/w diabetic nephropathy, retinopathy, and smoking

  • 30% of NLD pts have diabetes, but only 0.3% of diabetics have NLD
  • F>M
107
Q

Cutaneous lesions seen in MEN type I?

A

Pituitary gland adenomas, parathyroid tumors, and pancreatic tumors; tuberous sclerosis-like skin changes (collagenomas, facial angiofibromas, leukodermic macules, and CALMs, lipomas)

108
Q

Cutaneous lesions seen in MEN type IIa?

A

Parathyroid adenomas, medullary thyroid carcinoma, pheochromocytoma notalgia paresthetica, and macular/lichen amyloidosis

109
Q

Cutaneous lesions seen in MEN type IIb/III?

A

Mucosal neuromas, medullary thyroid carcinoma, pheochromocytoma, GI ganglioneuromatosis, marfanoid habitus, and thickened lips

110
Q

Genetics of the MEN?

A

AD

Type I: MEN1 (encodes menin, a tumor suppressor)

Types IIa and IIb/III: RET (encodes a tyrosine receptor

kinase)

111
Q

Associations with MEN?

A

Most important mucocutaneous changes:
* MEN 1 = TS-like changes
* MEN 2a = amyloid
* MEN 2b = mucosal neuromas; marfanoid features

112
Q

Most common infections in diabetes?

A

Erythrasma

Furuncles/carbuncles

Candidiasis: angular cheilitis, median rhomboid glossitis,

chronic paronychia, erosion interdigitale blastomycetica,

genital infections, and intertrigo

Other bacterial and fungal infections

113
Q

Cutaneous findings in Graves’ disease?

A

Velvety, smooth, or moist skin, Localized or generalized hyperpigmentation, Fine hair; mild but diffuse alopecia, Koilonychia, onycholysis, and clubbing from thyroid acropachy

  • Pretibial myxedema: Indurated red-brown pretibial plaques
114
Q

Associations with Graves’ disease?

A

Affects 3–5% of pts with Graves’ disease
* Often occurs after surgical treatment of Graves’ disease
* A/w exophthalmos, thyroid acropachy, clubbing, and trachyonychia

115
Q

Findings in thyroid dermopathy?

A

Symmetric, nonpitting, yellow to red-brown, waxy papules, nodules, and plaques on upper/lower extremities

116
Q

Cutaneous findings in hypothyroidism?

A
  • Coarse, dry, scaly, cold, boggy, and edematous skin
  • Generalized myxedema
  • Dull, brittle, and coarse hair; diffuse alopecia
  • Madarosis (loss of eyebrows/eyelashes), hypohidrosis, onycholysis, and striated/brittle/slow-growing nails
  • Cutaneous pallor or yellowing of skin secondary to carotenemia
  • Thickened skin with enlargement of the lips and tongue
117
Q

What is the most common thyroid cancer to present as skin metastasis?

A

Papillary thyroid carcinoma

118
Q

What conditions are associated with thyroid cancers?

A
  • Medullary thyroid carcinoma: MEN IIA, MEN IIB, and Birt-Hogg-Dubé
  • Follicular thyroid carcinoma: Cowden syndrome
119
Q

Cutaneous findings in Addison’s disease?

A

Diffuse hyperpigmentation (accentuated in sun-exposed areas) secondary to ACTH secretion; fibrosis and calcification of cartilage; loss of ambisexual hair in postpubertal women

120
Q

Cutaneous findings of Cushing’s syndrome?

A

Thin atrophic skin, easy bruising and poor wound healing, violaceous striae, buffalo hump, moon facies, steroid-induced acne, and hypertrichosis

121
Q

What are the cutaneous findings of Bannayan-Riley-Ruvalcaba syndrome?

A

Macrocephaly, lipomas, and penile lentigines

122
Q

Genetics of Bannayan-Riley-Ruvalcaba syndrome?

A

AD, mutation in PTEN gene (encodes protein phosphatase); affects mTOR pathway

123
Q

Associations with Bannayan-Riley-Ruvalcaba syndrome?

A

Mild phenotypic variant of Cowden syndrome (much lower risk of visceral malignancy)

A/w intestinal hamartomatous polyposis

124
Q

What are the genetics of blue rubber bleb nevus syndrome?

A

Sporadic (>AD)

125
Q

Associations with blue rubber bleb nevus syndrome?

A

Most important and common internal manifestation = GI venous malformations (blue blebs) lead to GI hemorrhage (potentially fatal)

Skin lesions precede GI involvement (birth vs early adulthood, respectively) so early recognition of skin changes is important!

126
Q

What are the cutaneous findings of Bowel-associated dermatosis-arthritis syndrome (BADAS, bowel bypass syndrome)?

A

Erythematous macules and patches with overlying papulovesicles and pustules on proximal extremities and trunk

127
Q

Associations with Bowel-associated dermatosis-arthritis syndrome (BADAS, bowel bypass syndrome)?

A

P/w fevers, chills, malaise, arthritis, and skin findings

  • As a result of bowel bacterial overgrowth leading to complement activation and deposition of antibody complexes in skin/synovium
  • 20% are a/w jejunoileal bypass surgery for obesity
  • May be a/w IBD
  • Rx: antibiotics (TCN, quinolones, metronidazole, and macrolides) and topical steroids; consider surgical revision of bowel bypass if severe
128
Q

What cutaneous findings are seen in cirrhosis?

A

Spider angiomas, palmar erythema, gynecomastia, Terry’s nails (liver failure), Muehrcke’s nails (hypoalbuminemia), pruritus, and jaundice

129
Q

Cutaneous findings of Cowden syndrome (PTEN hamartoma syndrome)

A

Facial trichilemmomas, oral papillomas (tongue, gingivae most commonly), palmoplantar keratoses, multiple lipomas, sclerotic fibromas (pathognomonic), and penile lentigines

130
Q

Genetics of Cowden syndrome?

A

AD, mutation in PTEN (encodes protein phosphatase); affects mTOR pathway

131
Q

What non-cancerous associations are seen with Cowden syndrome?

A

A/w hamartomatous polyps in GI tract, fibrocystic breast disease

PTEN Hamartoma syndrome (PTHS): umbrella term encompassing Cowden’s syndrome, Bannayan-Riley- Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome; all diseases have overlapping features

132
Q

What is Lhermitte Duclos disease?

A

Part of Cowden’s disease: Dysplastic gangliocytoma of the cerebellum (hamartoma) leads to cerebellar ataxia, macrocephaly, and increased intracranial pressure

133
Q

Cutaneous findings in Cronkhite-Canada syndrome?

A

Lentiginous hypermelanosis, alopecia, and nail thinning

134
Q

Associations in Cronkhite-Canada syndrome?

A

A/w nonhereditary adenomatous polyposis, diarrhea/ malabsorption (leading to weight loss), edema, and abdominal pain

No increased risk of cancer

135
Q

What are the cutaneous findings of Dego’s disease?

A

Eruption of multiple papules with porcelain-white center and erythematous rim; most commonly affects upper extremities and trunk

136
Q

Associations with Dego’s disease?

A

Is an occlusive vasculopathy of small arteries w/ poor prognosis (exception: skin-limited form has good prognosis)

A/w GI perforation (most common and most severe complication; occurs in half of cases; high mortality) > CNS disease

137
Q

Genetics of dermatitis herpetiformis?

A

Associated with: HLA-DQ2 > HLA-DQ8 >> other cited haplotypes (HLA-A1, HLA-B8, HLA-DR3)

138
Q

Associations with dermatitis herpetiformis?

A

Very strong association with gluten-sensitive enteropathy/ celiac disease
• Poor adherence to gluten-free diet → ↑risk GI lymphoma

139
Q

Cutaneous findings of Gardner syndrome?

A

Multiple epidermoid cysts (often hybrid cysts w/ focal pilomatrical differentiation), multiple pilomatricomas, multiple lipomas, desmoid tumors (15%), fibromas, jaw osteomas, and odontogenic cysts

140
Q

What are the genetics of Gardner syndrome?

A

AD mutation in APC gene (normally functions to downregulate β-catenin)

(This is a phenotypic variant of familial adenomatous polyposis syndrome)

141
Q

Associations with Gardner’s syndrome?

A
  • A/w many neoplasms: colorectal (~100%) carcinoma
  • A/w congenital hypertrophy of retinal pigment epithelium (CHRPE)
  • Syndromes a/w multiple pilomatricomas: Gardner, Rubenstein-Taybi, myotonic dystrophy
  • Syndromes a/w multiple lipomas: Gardner, Bannayan-Riley-Ruvalcaba, and MEN-I
142
Q

What syndromes are associated with multiple pilomatrixicomas?

A

Gardner, Rubenstein-Taybi, myotonic dystrophy

143
Q

What syndromes are associated with multiple lipomas?

A

Gardner, Bannayan-Riley-Ruvalcaba, and MEN-I

144
Q

Cutaneous findings in hemochromatosis?

A

Generalized bronzing and hyperpigmentation (increased melanin deposition)

145
Q

Genetics of hemochromatosis?

A

HFE gene mutation (C282Y most common)

146
Q

Associations and tx of hemochromatosis?

A

A/w excess iron stores, cirrhosis, cardiac dysfunction, and diabetes mellitus

Rx: phlebotomy (first line) and chelation (second line)

147
Q

What are the most important hepatitis B associated diseases?

A

Gianotti-Crosti (B ≫ C)

Classic PAN (B > C)

EN (B >C)

148
Q

What are the most important hepatitis C related diseases?

A

Necrolytic acral erythema (C)

Erosive oral LP (C)

Cryoglobulinemia types 2 and 3 (C ≫B)

PCT (C >B)

Cutaneous PAN (C > B)

Sarcoidosis a/w IFN or ribavirin (C > B)

149
Q

What diseases are caused by both hepatitis B and C together?

A

EM, CSSV, pruritus, urticarial vasculitis, and urticaria

150
Q

Associations with inflammatory bowel disease?

A

A/w erythema nodosum, urticarial vasculitis, small vessel vasculitis, PAN, bowel-associated dermatosis-arthritis syndrome, pyoderma gangrenosum, neutrophilic dermatosis, pyostomatitis vegetans, aphthous ulcers, granulomatous infiltrates, fissures, fistulas, and epidermolysis bullosa acquisita

151
Q

Cutaneous findings of primary biliary cirrhosis?

A

Pruritus, jaundice, diffuse hyperpigmentation, and xanthomas

152
Q

Associations with primary biliary cirrhosis?

A

Autoimmune disease strongly a/w antimitochondrial antibodies (>90%)

F≫M (9:1)

Osteoporosis is common complication

Rx: ursodiol, colchicine, methotrexate, and transplant

153
Q

Cutaneous findings with Peutz-Jeghers syndrome?

A

Mucosal (> cutaneous) melanotic macules

154
Q

Genetics of Peutz-Jeghers syndrome?

A

AD, STK11 mutations

155
Q

Associations with Peutz-Jeghers syndrome?

A

Benign hamartomatous polyps of the digestive tract (minimal to no malignant potential)

Most important associated malignancies: breast (~50%) > GI (~40%) and pancreatic (~35%–40%)

156
Q

Cutaneous findings in pseudoxanthoma elasticum?

A

Yellow papules in intertriginous areas, along with redundant, lax skin

157
Q

Genetics of pseudoxanthoma elasticum?

A

AR ABCC6 gene mutation (ABC transporter/ATPase involved in multidrug resistance)

158
Q

Associations with pseudoxanthoma elasticum?

A

A/w GI hemorrhage, angioid streaks (small breaks in Bruch’s membrane), hypertension, premature atherosclerosis, MI, uterine hemorrhage, and vascular calcification

  • Angioid streaks a/w: PXE, Paget’s bone disease, sickle cell anemia, and lead poisoning
159
Q

Cutaneous findings in pyoderma gangrenosum?

A

Violaceous nodule or hemorrhagic pustule that progresses to an ulcer with undermined purpuric borders; ulcer base may be purulent and hemorrhagic with necrotic eschar

  • ulcers heal with cribriform scarring
  • most commonly affects lower extremities
160
Q

Associations with pyoderma gangrenosum?

A

A/w IBD (ulcerative colitis > Crohn’s disease), rheumatoid arthritis, and myeloid blood dyscrasias

Can show pathergy

161
Q

What are the cutaneous findings of pyodermatitis/pyostomatitis vegetans?

A

Pustules and ulcerations on lips, buccal mucosa, and skin folds

A/w pyoderma gangrenosum of the skin

162
Q

Associations with pyodermatitis/pyostomatitis vegetans?

A

Almost always a/w IBD (ulcerative colitis > Crohn’s disease)

Rx: Treat underlying IBD; may use topical steroids or tacrolimus for local control

163
Q

Cutaneous findings of Muir-Torre syndrome?

A
  • Multiple sebaceous neoplasms: sebaceous adenoma, sebaceoma, and sebaceous carcinomas
  • Multiple keratoacanthomas (often w/ sebaceous differentiation)
164
Q

Genetics of Muir-Torre syndrome?

A

AD, mutations in mismatch repair genes leading to microsatellite instability; most common mutations: MSH2 (90%) > MSH6, MLH1, and PMS-2

165
Q

What disease is Muir-Torre syndrome related to?

A

It is a phenotypic variant of Lynch Syndrome

166
Q

Associations of Muir-Torre syndrome?

A

Cancer associations: colon (most common, 50%) > GU (second most common) > gastric, ovarian, endometrial cancers, and lymphoma

  • Extrafacial sebaceous neoplasms are very strongly a/w Muir-Torre (more so than facial lesions)
  • KAs w/ sebaceous differentiation strongly a/w Muir-Torre
167
Q

Cutaneous findings of scleroderma?

A

Early bilateral edema of hands progressing to acrosclerosis, dermal sclerosis (most commonly arms and head/neck); also see Raynaud phenomenon w/ digital infarction, ventral pterygium, facial telangiectasias (esp. CREST variant), and “salt and pepper” dyspigmentation; dermoscopy of nail folds show dilated capillary loops w/ surrounding avascular areas

168
Q

Associations with scleroderma?

A

Dermal sclerosis as a result of TGF-β (and endothelin-1, PDGF, IL-4, and connective tissue growth factor)

  • Most commonly a/w esophageal dysmotility and pulmonary fibrosis (up to 60%)
  • Anti-topoisomerase I (Scl-70): a/w diffuse SSc and pulmonary fibrosis
  • Anticentromere antibodies: a/w CREST syndrome (lSSc), and decreased pulmonary, cardiac, and renal involvement
  • Anti-PM/Scl antibodies: a/w polymyositis-scleroderma overlap syndrome
169
Q

Cutaneous findings in vitamin C deficiency (scurvy)?

A

Perifollicular purpura, “corkscrew hairs,” follicular hyperkeratosis, gingivitis, conjunctival hemorrhage, anemia (from GI blood loss), and difficulty walking

170
Q

Association with vitamin C deficiency (scurvy)?

A

A/w fad diets, malnutrition, and alcoholism

Vitamin C (ascorbic acid) is cofactor for lysyl

hydroxylase and prolyl hydroxylase (required for collagen hydroxylation and subsequent cross-linking) leads to defective collagen cross-linking leading to bone deformities, vascular fragility, poor wound healing, and aforementioned skin findings

171
Q

Associations with spider angioma?

A

Occurs secondary to hyperestrogenism

Develops in at least 75% of those with cirrhosis; also can occur with pregnancy and oral contraceptive use

172
Q

Cutaneous findings in Wilson’s disease?

A

Kayser-Fleischer rings, blue lunulae, and pretibial hyperpigmentation

173
Q

Genetics of Wilson’s disease?

A

AR mutation in ATP7B

174
Q

Association with Wilson’s disease?

A

Defects in copper metabolism leads to deposition in liver and subsequent liver failure

Neuropsychiatric symptoms common

Ceruloplasmin levels low

Kayser-Fleischer rings as a result of copper deposition in

Descemet’s membrane (cornea)

Rx: penicillamine, trientine, or liver transplantation

175
Q

Associations with calciphylaxis?

A

As a result of small to medium vessel calcification + thrombosis

  • Most commonly occurs in the setting of end-stage renal disease (a/w increased calcium-phosphate product) Other causes: diabetes mellitus and hyperparathyroidism
  • A/w secondary infections and sepsis; high mortality * Rx: treat underlying renal failure, partial parathyroidectomy, debride necrotic tissue, sodium thiosulfate, and treat underlying infections; Mayo Clinic has reported success w/ fibrinolytic therapies
176
Q

Cutaneous findings in end-stage renal disease?

A

Pale color, yellowing of skin secondary to deposition of carotenoids and urochrome, photo-distributed hyperpigmentation, ecchymoses, xerosis, and Lindsay’s (half and half) nails

177
Q

Dermatology associations with end-stage renal disease?

A

Pruritus, calciphylaxis, metastatic calcification, nephrogenic fibrosing dermopathy/NSF (a/w gadolinium exposure), perforating diseases, uremic frost, pseudoporphyria, and porphyria cutanea tarda

178
Q

Associations with Henoch-Schonlein purpura?

A

May be a/w IgA glomerulonephritis

Most common in prepubescent children; the majority of pts

Can have preceding URTI/pharyngitis; group A Streptococcus

Is most commonly associated infection

P/w abdominal pain, scrotal pain/edema, arthritis, and transient renal insufficiency (may have chronic renal insufficiency in up to 10%–20%, but only 2% develop ESRD)

179
Q

What organ is also commonly associated with inflammation in HSP?

A

The testes (can be painful, but not have skin lesions. Can mimic torsion)

180
Q

Cutaneous findings in nail-patella syndrome?

A

Hypoplasia of nails (fingernails > toenails; thumb most severely affected), triangular lunulae

181
Q

Genetics of nail-patella syndrome?

A

AD LMX1B gene mutation (regulates collagen synthesis)

182
Q

Associations with nail-patella syndrome?

A

A/w focal segmental glomerulosclerosis (seen in 40%, fatal in 10%; important to treat early to prevent renal failure), absence/hypoplasia of patella (90%), iliac horns (pathognomonic exostoses of iliac bone of pelvis, seen in 80%; asymptomatic)

Classic eye finding: Lester iris (~50%; hyperpigmentation of pupillary margin of iris)

183
Q

Cutaneous findings of nephrogenic systemic fibrosis?

A

Woody, indurated plaques most commonly on legs (> trunk) with “peau d’orange” appearance; face spared and yellow papules on palms

184
Q

Associations with nephrogenic systemic fibrosis?

A

All pts have history of exposure to gadolinium MRI contrast dye (highest risk w/ Omniscan, Magnevist, and Optimark) in setting of renal insufficiency (chronic > acute)

Important eye finding: yellow scleral plaques

185
Q

What are associated with polyarteritis nodosa?

A

Renal artery aneurysms and HTN

186
Q

What are the cutaneous findings in Reed’s Syndrome?

A

Multiple cutaneous pilar leiomyomas and uterine leiomyomas

187
Q

Genetics of Reed’s syndrome?

A

AD, fumarate hydratase gene mutation
* Fumarate hydratase is an enzyme involved in citric acid/Krebs cycle of cellular respiration

188
Q

Associations with Reed’s syndrome?

A

Increased risk of renal cell carcinoma (15% lifetime risk) and renal cysts

189
Q

Cutaneous findings in tuberous sclerosis?

A

Facial angiofibromas in butterfly distribution (adenoma sebaceum), periungual and subungual angiofibromas (Koenen’s tumors), ash leaf macules, shagreen patch (back/neck most common), CALMs, and ocular lesions (coloboma and phakoma)

190
Q

Genetics of tuberous sclerosis?

A

AD; caused by mutations in TSC1 (hamartin) and TSC2 (tuberin)

191
Q

Associations with tuberous sclerosis?

A

A/w renal angiomyolipomas, CNS tumors (giant cell astrocytoma, cortical tubers, subependymal nodules), mental retardation, seizures, and cardiac rhabdomyomas

192
Q

Cutaneous findings of acquired angioedema?

A

Painless, nonpitting, pruritic edema of the skin; no associated urticarial plaques/skin lesions

193
Q

Associations with acquired angioedema?

A

Caused by decreased C1-INH activity (common to all forms of HAE and AAE)

Both types AAE (AAE1 and AAE2) have decreased C1q (distinguishes from HAE) and decreased C2/C4

AAE type 1 a/w lymphoproliferative disease

AAE type 2 a/w autoimmune disease

194
Q

Cutaneous findings of acquired ichthyosis?

A

Adherent polygonal scale/keratosis on lower extremities (favors extensors); spares flexural creases

195
Q

Associations acquired ichthyosis?

A

Most commonly a/w Hodgkin and non-Hodgkin lymphoma

Other associations: sarcoidosis, lupus, thyroid dysfunction, drugs, lymphoma, breast and lung cancer

Usually diagnosed after malignancy and course follows that of underlying malignancy

196
Q

Cutaneous findings in acrokeratosis paraneoplastica?

A

Initially, p/w symmetric erythematous to violaceous psoriasiform plaques on nasal bridge, helices, distal extremities, +/− palmoplantar keratoderma; eruption gradually extends proximally to knees, legs, arms, and scalp

  • Other clinical findings include xanthonychia, subungual hyperkeratosis, onycholysis, and horizontal and longitudinal nail ridging

(seen in 75%)

197
Q

Associations with acrokeratosis paraneoplastica?

A
  • Most commonly a/w cancer of upper aerodigestive tract (oral cavity, pharynx, larynx, esophagus)
  • Can clinically resemble psoriasis (involvement of helices and nose is a clue to Bazex)
  • M>F;averageage=40
  • Skin findings precede the diagnosis by 2–6 months
198
Q

Cutaneous findings of alopecia neoplastica?

A

Localized scarring alopecia as a result of dermal infiltration by metastatic carcinoma

199
Q

Associations w/ alopecia neoplastica?

A

Metastatic breast cancer

200
Q

Associations with antiepiligrin cicatricial pemphigoid?

A

A/w variety of adenocarcinomas (GI and lung > gynecologic and GU > others)

201
Q

Cutaneous findings of carcinoid syndrome?

A

Head, neck, and upper trunk flushing and erythema; pellagra-like dermatitis, diarrhea, dyspnea, wheezing, and bronchospasm; sclerodermoid changes in advanced disease

202
Q

Associations with carcinoid syndrome?

A

Increased 5-HIAA levels can be found in urine
* Metastasis to liver is typically required for midgut tumors to produce carcinoid syndrome
* Bronchial and gastric carcinoid tumors may cause flushing in absence of liver metastases
* Although the appendix is the most common location

for primary carcinoid tumors, it very rarely metastasizes to liver so it rarely causes carcinoid syndrome

203
Q

Cutaneous findings in carcinoma en cuirasse/carcinoma erysipeloides?

A

Carcinoma en cuirasse: indurated skin w/ orange peel-like (peau d’orange) appearance

Carcinoma erysipeloides: well-demarcated, raised red plaque

Both typically present on the chest wall, but can also involve axilla and upper extremities

204
Q

Associations with carcinoma en cuirasse/carcinoma erysipeloides?

A

As a result of metastatic breast carcinoma infiltration into lymphatic vessels

205
Q

Cutaneous findings in cryoglobulinemia type I?

A

Retiform purpura and necrosis on cool acral sites; acral cyanosis and livedo reticularis

206
Q

Associations of cryoglobulinemia type I?

A

As a result of monoclonal gammopathy (typically in the form of a plasma cell dyscrasia such as multiple myeloma, B-cell lymphoma or Waldenström macroglobulinemia)

Histology: vessels plugged with pink proteinaceous material (immunoglobulins)

207
Q

Appearance of cutaneous metastasis?

A

Erythematous and violaceous papules and nodules

208
Q

Associations with cutaneous metastasis?

A

Cutaneous metastases occur most commonly from breast cancer in women and lung cancer in men

Other cancers with a high cutaneous metastatic potential include: colon, melanoma, and larynx/oral cavity/nasal sinus

Metastases from renal carcinoma appear as highly vascular papules and nodules on the head/neck

209
Q

Cancers associated with dermatomyositis?

A

Most commonly a/w ovarian cancer

Other associated malignancies: lung, colorectal pancreatic, and non-Hodgkin lymphoma

210
Q

Cutaneous findings in ectopic ACTH syndrome?

A

Generalized hyperpigmentation

211
Q

Associations in ectopic ACTH syndrome?

A

Secondary to tumor production of ACTH (often small cell carcinoma of the lung)

May show features of Cushing’s syndrome

212
Q

Cutaneous findings in erythema gyratum repens?

A

Widespread serpiginous, polycyclic, and pruriginous erythema with desquamating edges that produce concentric figures (“woodgrain” pattern)

  • spares hands and feet
213
Q

Associations with erythema gyratum repens?

A

Lung cancer is most commonly associated malignancy (> esophageal and breast)

  • Usually precedes the detection of primary malignancy and resolves w/ treatment of underlying malignancy
  • Average age = 60s; M > F (2:1)
  • Plaques expand rapidly (~1 cm/day)
214
Q

What cancers can erythroderma be associated with?

A

Underlying leukemias and lymphomas

215
Q

Cutaneous appearance of extramammary Paget disease?

A

Red and white macerated/eroded plaques (“strawberries and cream”) located around anal verge and below dentate line; most common sites are vulva (women) and perianal regions (men)

216
Q

Associations with extramammary Paget disease?

A

Primary EMPD (>75%): primary cutaneous adenocarcinoma; likely derived from Toker cells or cutaneous adnexal glandular epithelium (sweat glands); ++− immunophenotype: CK7 , GCFDP-15 , and CK20

Secondary EMPD (20%): may be as a result of direct extension or epidermotropic metastases of underlying GI/GU (> prostate, ovarian, and endometrial) +− adenocarcinoma; immunophenotype: CK7 / , GCFDP- −+ 15 , and CK20

High rate of recurrence, even w/Mohs (because it is difficult to see individual Paget cells on frozen H&E sections); Mohs with CK7 immunostaining has improved cure rates (>95%); may try CO2 laser ablation, radiotherapy, imiquimod, or 5-FU

Five times increased risk of internal malignancy w/ perianal EMPD vs vulvar and penoscrotal

217
Q

What is the diagnostic criteria for familial atypical mole and multiple melanoma syndrome?

A
  • Numerous (>50) melanocytic nevi, some of which are clinically dysplastic
  • Some nevi are histologically atypical
  • Family history of melanoma in one or more first-degree relatives
218
Q

Genetics of Familial atypical mole and multiple melanoma syndrome?

A

AD; CDKN2A gene mutation (encodes two separate tumor suppressor proteins: p16 and p14/ARF)

p16 inhibits CDK4

p14/ARF inhibits MDM2 (normally degrades p53) in normal state p14 indirectly increases p53 expression

219
Q

Risk if cancer in Familial atypical mole and multiple melanoma syndrome?

A

Increased risk of melanoma and pancreatic cancer

220
Q

Cutaneous findings in Howell-Evans syndrome?

A

Diffuse waxy keratoderma of high pressure areas on plantar surface (i.e. heel, ball of foot) oral leukokeratosis

221
Q

Genetics of Howell-Evans syndrome?

A

AD, mutation of “TOC gene” on chromosome 17q25 (gene renamed RHBDF2)

222
Q

Cancer associated with Howell-Evans syndrome?

A

Esophageal carcinoma

223
Q

Cutaneous findings in hypertrichosis lanuginosa acquisita?

A

Sudden onset of long, thin, soft, lanugo-like hair initially on the face and ears, which can spread in craniocaudal manner

224
Q

Associations with Hypertrichosis lanuginosa acquisita?

A

A/w lung, colorectal, and breast cancer; anorexia nervosa

  • F > M (3:1); average age 40–70 years
  • Tumor treatment usually leads to regression of hair growth
225
Q

Association seen with juvenile xanthogranuloma and neurofibromatosis type I?

A

Triple association w/ juvenile xanthogranuloma, neurofibromatosis type 1, and juvenile myelomonocytic leukemia

226
Q

Associations seen with sign of leser-Trélat?

A

Most commonly a/w underlying gastric adenocarcinoma (> colon, breast, others)

A/w pruritus and inflammation; may improve with treatment of underlying malignancy

May be a/w acanthosis nigricans and tripe palms

227
Q

Cutaneous findings of malignant acanthosis nigricans?

A

Sudden onset with extensive and severe lesions; p/w symmetric hyperpigmented velvety plaques typically in intertriginous areas

228
Q

Associations seen with malignant acanthosis nigricans?

A

Typically a/w GI cancer (esp. stomach)

Can occur simultaneously, before, or after cancer

diagnosis and can have associated weight loss

  • Improves with treatment of underlying malignancy

25% of patients also have tripe palms (tripe palms in

absence of AN is more commonly a/w lung cancer)

229
Q

Cutaneous findings in multicentric reticulohistocytosis?

A

Multiple red to red-brown, nontender papules and nodules primarily on dorsal hands and nail folds with a “coral-beaded” appearance; face (esp. ears and perinasal) is second most common site

230
Q

Associations with multicentric reticulohistiocytosis?

A
  • Up to 50% have arthritis mutilans

25%–33% have underlying malignancy (no specific internal malignancy favored); skin eruption usually precedes the diagnosis of internal malignancy

231
Q

Cutaneous findings in necrolytic migratory erythema?

A

Arcuate and polycyclic, erosive, erythematous patches +/− vesicles/bullae often on genital region, buttocks/ anal region, lower extremities, and intertriginous areas

232
Q

Associations in necrolytic migratory erythema?

A

Glucagonoma syndrome consists of NME, glucose intolerance, weight loss, glossitis, and glucagon-secreting carcinoma

  • A/w pancreatic islet cell carcinoma (α-2 glucagon)
233
Q

Cutaneous findings of necrobiotic xanthogranuloma?

A

Indurated yellow plaques w/ frequent ulceration and necrosis; most commonly periorbital

234
Q

Associations with necrobiotic xanthogranuloma?

A

A/w paraproteinemia (most often IgG-κ); occasionally a/w multiple myeloma and other lymphoproliferative malignancies

235
Q

Cutaneous presentation of Paget disease of the breast?

A

Eczematous and psoriasiform plaques of the nipple

236
Q

Associations seen with Paget disease of the breast?

A

Almost always a/w underlying ductal breast CA

237
Q

Cutaneous findings in paraneoplastic pemphigus?

A

Severe erosive disease of mucous membranes leading to painful oral stomatitis; polymorphous bullous skin eruption (individual lesions may resemble EM, LP, PV, or BP)

238
Q

Associations with paraneoplastic pemphigus?

A

90% mortality; most common causes of death: underlying malignancy, bronchiolitis obliterans, and sepsis

Most commonly a/w non-Hodgkin lymphoma or CLL

Other associated malignancies: Castleman disease (most common association in children), thymoma, sarcoma

No gender predominance; usually affects ages

45–70 years

239
Q

Cutaneous findings in pityriasis rotunda?

A

Multiple well-defined circular hyperpigmented and hypopigmented scaly patches, usually on the trunk/ buttocks

240
Q

Associations with pityriasis rotunda?

A

Most strongly a/w hepatocellular carcinoma

Other associated conditions: tuberculosis, leprosy, and liver and lung disease; gastric and esophageal carcinoma

241
Q

Cutaneous findings of plane xanthoma?

A

Yellow patches and thin plaques
* Tends to affect trunk, periorbital skin, and body folds

242
Q

Associations seen with plane xanthoma?

A

Often a/w paraproteinemia, multiple myeloma, and lymphoproliferative malignancies

243
Q

Cutaneous findings in POEMS syndrome?

A

P: Polyneuropathy (distal to proximal motor and sensory)

  • O: Organomegaly
  • E: Endocrinopathy (number one is hypogonadism) * M: M-protein (IgG and IgA light chains)
  • S: Skin changes

Most common cutaneous findings: hyperpigmentation (90%), lower extremity edema >hypertrichosis (80%), sclerodermoid changes > glomeruloid hemangiomas, cherry angiomas, and nail changes (leukonychia; clubbing) > acrocyanosis and Raynaud’s

244
Q

Associations with POEMS syndrome?

A

Always a/w plasma cell dyscrasia: Waldenstrom macroglobulinemia, osteosclerotic myeloma, MGUS, and Castleman disease

Very increased VEGF levels

Other associated findings include pulmonary effusions, ascites, peripheral edema, polycythemia, and thrombocytosis

245
Q

Associations with systemic primary amyloidosis?

A

Monoclonal gammopathy most commonly
as a result of plasma cell dyscrasia ≫ multiple myeloma

As a result of deposition of light chains (AL) in various tissues

246
Q

Cutaneous findings in Schnitzler syndrome?

A

Chronic urticaria in patient with fever, arthralgias, hepatosplenomegaly, and bone pain

247
Q

Associations in Schnitzler syndrome?

A

A/w IgM-κ paraproteinemia and lymphoplasmacytic malignancies

248
Q

Cutaneous findings in scleromyxedema?

A

Widespread, firm, waxy papules often arranged in linear fashion; sclerodermoid skin changes; Leonine facies

249
Q

Associations with scleromyxedema?

A

Invariably a/w paraproteinemia (most commonly IgGλ light chains); progresses to multiple myeloma in 10%

250
Q

What is a Sister Mary Joseph nodule?

A

Palpable nodule at umbilicus secondary to metastatic tumor

251
Q

Tumors associated with Sister Mary Joseph nodule?

A

Typically source is a malignancy of pelvis or abdomen including colon, ovarian, and pancreatic uterine and gastric cancer

  • Has also been a/w breast cancer
252
Q

Cutaneous findings of sweet syndrome?

A

“Juicy” red-violaceous papules/plaques that can have overlying pustules and pseudovesicles; favors head/neck, and upper extremities

253
Q

Associations with Sweet syndrome?

A

F > M (except in cases a/w underlying malignancy, where M = F)

  • Also have fever, malaise, and leukocytosis
  • A/w IBD, URI infection, malignancy (most common is AML), and polycythemia vera
  • Rx: steroids, potassium iodide, clofazimine, and colchicine
254
Q

Cutaneous manifestation of tripe palms?

A

Yellow, velvety, diffuse palmar hyperkeratosis with accentuated dermatoglyphic patterns

255
Q

Associations with tripe palms?

A

Tripe palms + acanthosis nigricans= gastric cancer (most common)

  • Tripe palms alone = lung cancer (most common)
256
Q

What malignancies are associated with Cowden’s disease?

A

Lifetime risk of cancer: Breast (85%; often bilateral) > Thyroid (35%; follicular most common) > Endometrial

Dysplastic gangliocytoma of the cerebellum (Lhermitte Duclos disease) is a part of Cowden’s syndrome; is a hamartoma that leads to cerebellar ataxia, macrocephaly, and increased intracranial pressure

Mnemonic: “BET on cancer with Cowden’s”

DERM (13) Metabolic and Systemic Disease (7 decks)

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