Genoderm Summary Table Flashcards
1
Q
Acrodermatitis Enteropathica
A
Acrodermatitis Enteropathica - AR - SLC39A4 - Scaly eczematous plaques: perioral, perianal, hands, feet, scalp
2
Q
AEC Syndrome (Hay-Wells Syndrome)
A
AEC Syndrome (Hay-Wells Syndrome) - AD - P63 (p63 protein) - Erosive scalp dermatitis, 80% cleft lip/palate, ankyloblepharon, hypotrichosis
3
Q
Albinism, Oculocutaneous Type 1
A
Albinism, Oculocutaneous Type 1 - AR - TYR (tyrosinase) - Severe nystagmus, incr SCC risk, pink nevi
4
Q
Albinism, Oculocutaneous Type 2
A
Albinism, Oculocutaneous Type 2 - AR - OCA2 gene (P protein) - most frequent form in Africans. Nystagmus, light brown hair, pigmented nevi
5
Q
Albinism, Oculocutaneous Type 3
A
Albinism, Oculocutaneous Type 3 - AR - TRP-1 (tyrosine-related protein) - Nystagmus, blue/brown iris, light brown hair/skin
6
Q
Albright Hereditary Osteodystrophy
A
Albright Hereditary Osteodystrophy - AD - GNAS1 (encodes alpha subunit for stimulatory G protein of adenylate cyclase: Gs) - Pseudohypoparathyroidism, short stature, shortened 4th metacarpal, soft tissue calcification and ossification (i.e. osteoma cutis)
7
Q
Alkaptonuria
A
Alkaptonuria - AR - HGD (homogentisate oxidase) - Dark urine on standing, ochronosis, valvular heart disease, arthritis, renal calculi, red-black ear wax
8
Q
Ataxia-Telangiectasia (Louis-Bar Syndrome)
A
Ataxia-Telangiectasia (Louis-Bar Syndrome) - AR - ATM (ataxia-telangiectasia mutated: chromosomal strand break repair) - incr Leukemia/lymphoma, incr sensitivity to ionizing radiation, incr sinopulmonary infections, progressive ataxia, telangiectasias
9
Q
Atrichia with Papules (Congenital Atrichia with Papules)
A
Atrichia with Papules (Congenital Atrichia with Papules) - AR - HR (hairless gene: zinc finger) - Normal hair at birth but not replaced after hair sheds, follicular papules (± resembles keratosis pilaris)
10
Q
Bannayan-Riley-Ruvacalba Syndrome
A
Bannayan-Riley-Ruvacalba Syndrome - AD - PTEN (tumor suppressor gene) - Macrocephaly, lipomas, hemangiomas, genital lentigines, trichilemmomas, incr breast/thyroid/GI CA
11
Q
Bazex Syndrome (Bazex-Dupre-Christol)
A
Bazex Syndrome (Bazex-Dupre-Christol) - XLD - Unknown (gene linked to Xq24-q27) - Multiple BCCs, hypotrichosis, hypohidrosis, follicular atrophoderma (circumscribed areas on dorsal hands/feet)
12
Q
Beare-Stevenson Cutis Gyrata Syndrome
A
Beare-Stevenson Cutis Gyrata Syndrome - AD - FGFR2 (fibroblast growth factor receptor 2) - Cutis gyrata, acanthosis nigricans, craniosynostosis (premature fusion of certain bones in skull)
13
Q
Beckwith-Wiedemann Syndrome
A
Beckwith-Wiedemann Syndrome - AD (<15%) - CDKN1C (cyclin-dependent kinase inhibitor 1c, aka p57 or Kip2) - Macroglossia, circular depression (helices of ears), gigantism, midline abdominal wall defects, neonatal hypoglycemia, organomegaly, incr Wilms tumor
14
Q
Berardinelli-Seip Syndrome (Congenital Generalized Lipodystrophy)
A
Berardinelli-Seip Syndrome (Congenital Generalized Lipodystrophy) - AR - BSCL2 - Acanthosis nigricans, type 2 diabetes mellitus, generalized lipodystrophy
15
Q
Birt-Hogg-Dubé Syndrome
A
Birt-Hogg-Dubé Syndrome - AD - FLCN (folliculin) - incr Fibrofolliculomas, trichodiscomas, lipomas, incr CA (renal/colon/medullary thyroid), lung cysts
16
Q
Björnstad Syndrome
A
Björnstad Syndrome - AR, AD - BCS1L - Deafness, pili torti
17
Q
Bloom Syndrome
A
Bloom Syndrome - AR - BLM (RECQL3: DNA helicase) - Oral SCC, leukemia/lymphoma, GI CA, incr infections, poikiloderma, photosensitivity, hypogonadism
18
Q
Brooke-Spiegler Syndrome
A
Brooke-Spiegler Syndrome - AD - CYLD (cylindromatosis) - Multiple trichoepitheliomas, cylindromas, spiradenomas, ± BCCs
19
Q
Bruton Agammaglobulinemia
A
Bruton Agammaglobulinemia - XLR - BTK (Bruton tyrosine kinase) - Decr B cells with decr Ig levels, eczema resembling atopic dermatitis, recurrent bacterial infections like impetigo/furunculosis (especially encapsulated organisms)
20
Q
Buschke-Ollendorf Syndrome
A
Buschke-Ollendorf Syndrome - AD - LEMD3 - Osteopoikilosis, connective tissue nevi (dermatofibrosis lenticularis disseminata)
21
Q
Carney Complex (LAMB, NAME)
A
Carney Complex (LAMB, NAME) - AD - PRKAR1_ (protein kinase c-AMP-dependent regulatory type 1 _) - Psammomatous schwannomas, thyroid disease, multiple lentigines, blue nevi, testicular tumors, cutaneous and cardiac myxomas
22
Q
Chédiak-Higashi Syndrome
A
Chédiak-Higashi Syndrome - AR - LYST1 (lysosomal transport) - Oculocutaneous albinism, ataxia, giant lysosomal granules, muscle weakness
23
Q
CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects)
A
CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects) - XLD - NSDHL gene mutation - Unilateral ichthyosiform erythroderma, limb/visceral hypoplasia, stippled epiphyses
24
Q
Chondrodysplasia Punctata
A
Chondrodysplasia Punctata - XLR - Arylsulfatase E - Ichthyosis, sparse hair, stippled epiphyses (punctate chondral calcifications)
25
Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic - AR - PEX7 (peroxisomal biogenesis disorder) - Stippled epiphyses, accumulation of phytanic acid, follicular atrophoderma, scarring alopecia, cataracts, rhizomelia (striking shortening of proximal limbs)
26
Chondrodysplasia Punctate, XLD (Conradi-Hünermann-Happle Syndrome)
Chondrodysplasia Punctate, XLD (Conradi-Hünermann-Happle Syndrome) - XLD - EBP (emopamil-binding protein) - Ichthyosiform erythroderma (along lines of Blaschko), follicular atrophoderma, patchy alopecia, cataracts, stippled epiphyses
27
Chronic Granulomatous Disease
Chronic Granulomatous Disease - XLR (mostly) - CYBB (cytochrome B, b subunit _ phagocyte NADPH oxidase defect, so unable to deliver respiratory burst for catalase-positive bacteria) - Recurrent infections, initially with staph infections around ears/nose, lymphadenopathy, cutaneous abscesses, suppurative lymphadenitis
28
Citrullinemia
Citrullinemia - AD - ASS (arginosuccinate synthetase, in urea cycle) - Lethargy, poor feeding, seizures, vomiting
29
Cockayne Syndrome
Cockayne Syndrome - AR - ERCC8 (CSA) & ERCC6 (CSB) - Premature aging, cataracts, cachectic dwarfism, retinitis pigmentosa, photosensitivity
30
Congenital Contractural Arachnodactyly
Congenital Contractural Arachnodactyly - AD - FBN2 (fibrillin-2) - Crumpled ears, arachnodactyly, long limbs, scoliosis
31
Congenital Ichthyosiform Erythroderma (Nonbullous CIE)
Congenital Ichthyosiform Erythroderma (Nonbullous CIE) - AR - TGM1 (transglutaminase-1) & ALOX12B (lipoxygenase) & ALOXE3 (lipoxygenase) - Collodion membrane, generalized erythroderma with fine scaling (flexural involvement), palmoplantar keratoderma (PPK)
32
Cowden Syndrome (Multiple Hamartoma Syndrome)
Cowden Syndrome (Multiple Hamartoma Syndrome) - AD - PTEN (tumor suppressor gene) - Trichilemmomas, oral papillomas, incr CA (breast, thyroid follicular, colon), fibrocystic breast changes, cobblestoning of mucosa
33
Cutis Laxa
Cutis Laxa - AR - FBLN5 (fibulin 5) - Loose pendulous skin with decreased elasticity, diverticulae (bladder/GI), pulmonary emphysema, pulmonary artery stenosis
34
Cutis Laxa
Cutis Laxa - AD - ELN (elastin), FBLN5 - Loose pendulous skin, systemic involvement uncommon
35
Cutis Laxa (Occipital Horn Syndrome, EDS IX)
Cutis Laxa (Occipital Horn Syndrome, EDS IX) - XLR - ATP7A (copper transport disease) - Mild skin laxity, skeletal malformations, GU tract abnormalities, joint laxity
36
Darier Disease (Darier-White Disease) (Keratosis Follicularis)
Darier Disease (Darier-White Disease) (Keratosis Follicularis) - AD - SERCA2 (calcium-dependent ATPase 2A2) - Acrokeratosis verruciformis, warty papules/plaques in seborrheic distribution, red/white longitudinal streaking of nails with v-shaped nicks at free margin
37
Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome)
Dyskeratosis Congenita (Zinsser-Engman-Cole Syndrome) - Various (see right) - XLR - DKC1 (dyskerin: ribosome assembly chaperone), AD - TERC (telomerase RNA component) - Reticulate gray brown hyperpigmentation, dystrophic nails, alopecia, premalignant leukoplakia, pancytopenia, continuous lacrimation, incr malignancy
38
EB Recessive Dystrophic (RDEB-HS) (Hallopeau-Siemens)
EB Recessive Dystrophic (RDEB-HS) (Hallopeau-Siemens) - AR - Type VII collagen (premature termination codon) - Severe widespread bullae at birth, scarring on hands/feet (mitten deformity), nail dystrophy, mucosal strictures, incr oral/esophageal/skin SCCs
39
EB, Dominant Dystrophic (DDEB) (Cockayne-Touraine)
EB, Dominant Dystrophic (DDEB) (Cockayne-Touraine) - AD - Type VII collagen (anchoring fibrils) - Bullae mainly over extremities, nail dystrophy, less severe than RDEB
40
EB Simplex (Dowling-Meara)
EB Simplex (Dowling-Meara) - AD - K5/14 (EM: clumped tonofilaments in basal layer) - Herpetiform bullae, early death, PPK, nail dystrophy, mucosal involvement (laryngeal, esophageal)
41
EB Simplex (EBS) (Weber-Cockayne) (Localized)
EB Simplex (EBS) (Weber-Cockayne) (Localized) - AD - K5/14 (keratin) - Onset in childhood, bullae mainly in extremities (hands, feet), heals without scarring
42
EBS with Muscular Dystrophy
EBS with Muscular Dystrophy - AR - Plectin (hemidesmosome) - Muscular (myotonic) dystrophy, widespread bullae at birth, scarring, early death
43
EB Junctional (JEB) (Herlitz) (EB Lethalis) - Split at lamina Lucida
EB Junctional (JEB) (Herlitz) (EB Lethalis) - Split at lamina Lucida - AR - LAMA3 (subunit of laminin 5, now called laminin 332 ) (premature termination codon) - Widespread bullae, exuberant perioral granulation tissue, early death, enamel defects, severe mucosal involvement (respiratory/GI tract), ± hoarseness
44
EB Junctional (Non-Herlitz) (Generalized Atrophic Benign EB)
EB Junctional (Non-Herlitz) (Generalized Atrophic Benign EB) - AR - Laminin 332 (5) or BPAG2 - Bullae, mild oral involvement, scarring alopecia, improves over time
45
EB Junctional with Pyloric Atresia
EB Junctional with Pyloric Atresia - AR - _6_4 (integrin) - Bullae, pyloric atresia, hydronephrosis, mucosal erosions
46
Ectodermal Dysplasia with Skin Fragility
Ectodermal Dysplasia with Skin Fragility - AD - Plakophilin 1 and 2 (mainly) - Fragile bullae and erosions/crust, perioral fissuring and cheilitis, PPK, nail dystrophy
47
EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate)
EEC Syndrome (Ectrodactyly, Ectodermal Dysplasia, Cleft Lip/Palate) - AD - p63 gene - Cleft lip/palate, ectodermal dysplasia, ectrodactyly (absence of one or more central digits of hand or foot, also called ‘lobster claw deformity’)
48
Epidermodysplasia Verruciformis
Epidermodysplasia Verruciformis - AR - EVER1, EVER2 - Abnormal susceptibility to human papillomaviruses of the skin (often HPV 5/8/47), incr SCCs
49
Epidermolytic Hyperkeratosis (Generalized EHK) (Bullous CIE)
Epidermolytic Hyperkeratosis (Generalized EHK) (Bullous CIE) - AD - K1, K10 (clumping of keratin filaments in suprabasal layers) - Erythema/blistering in infancy and replaced by hyperkeratosis (flexural predominance)
50
Erythrokeratoderma Variabilis (Mendes da Costa)
Erythrokeratoderma Variabilis (Mendes da Costa) - AD (mainly) - GJB3 and GJB4 (connexin 31 and 30.3) - Transient erythematous figurate patches, fixed hyperkeratotic plaques
51
Fabry Disease (Angiokeratoma Corporis Diffusum)
Fabry Disease (Angiokeratoma Corporis Diffusum) - XLR - _-Galactosidase A - Angiokeratomas, pain/paresthesia of limbs, whorled corneal opacities, hypohidrosis, renal and coronary insufficiency, ‘maltese crosses’ (birefringent lipids in urine)
52
Familail Mediterranean Fever (FMF)
Familail Mediterranean Fever (FMF) - AR - MEFV (pyrin, also known as marenostrin) - Recurrent febrile episodes with self-limited but painful episodes of synovitis, peritonitis, pleuritis
53
Familial Partial Lipodystrophy (FPLD)
Familial Partial Lipodystrophy (FPLD) - AD - LMNA (lamins A and C) - Absence of subcutaneous fat, muscular appearing arms/legs, acanthosis nigricans, diabetes mellitus
54
Focal Dermal Hypoplasia (Goltz Syndrome)
Focal Dermal Hypoplasia (Goltz Syndrome) - XLD - POCRN (X chromosome: encodes acyltransferase) - Alopecia, fat herniation, osteopathia striata, mucocutaneous papillomas and pits
55
Gardner Syndrome (Familial Polyposis of the Colon)
Gardner Syndrome (Familial Polyposis of the Colon) - AD - APC (adenomatosis polyposis coli) - GI polyps, incr colon cancer, osteomas (jaw), supernumerary teeth, epidermoid cysts, CHRPE (congenital hypertrophy retinal pigment epithelium)
56
Gaucher Disease
Gaucher Disease - AR - _-Glucosidase (also known as glucocerebrosidase) - Erlenmeyer flask bone deformity, bone pain, aseptic necrosis, hepatosplenomegaly, ± CNS involvement
57
Gorlin Syndrome (Nevoid BCC Syndrome) (Basal Cell Nevus Syndrome)
Gorlin Syndrome (Nevoid BCC Syndrome) (Basal Cell Nevus Syndrome) - AD - PTCH (patched mutation _ SMO activation [Hedgehog pathway] resulting in incr Gli) - Palmoplantar pits, jaw cysts, bifid ribs, ovarian fibromas, medulloblastomas, falx calcification
58
Griscelli Syndrome
Griscelli Syndrome - AR - Rab 27 A & MyO5A (myosin V) - Pancytopenia, immunodeficiency, silvery gray hair, partial albinism, incr infections, neurological impairment
59
Hailey-Hailey Disease (Familial Benign Chronic Pemphigus)
Hailey-Hailey Disease (Familial Benign Chronic Pemphigus) - AD - ATP2C1 (golgi-associated Ca2+ ATPase, interferes with intracellular calcium signaling) - Flaccid blisters and erosions in intertriginous areas with vegetating plaques
60
Haim-Munk Syndrome
Haim-Munk Syndrome - AR - Cathepsin C - Erythematous PPK, onychogryphosis, periodontitis, early loss of teeth, acro-osteolysis
61
Harlequin Fetus
Harlequin Fetus - AR - ABCA12 - Restrictive plate-like scales, eclabion, death due to respiratory difficulty and/or sepsis
62
Hartnup Disease
Hartnup Disease - AR - SLC6A19 (defective intestinal/renal neutral amino acid transport) - Pellagra-like dermatosis with photosensitivity, ataxia, tremors
63
Hereditary Angioedema
Hereditary Angioedema - AD - SERPING1 (gene for C1-INH, serine protease inhibitor) - Episodes of nonpitting swelling (angioedema), ± abdominal pain, diarrhea, paroxysmal colicky pain
64
Hereditary Congenital Lymphedema (Nonne-Milroy)
Hereditary Congenital Lymphedema (Nonne-Milroy) - AD - VEGFR3 (FLT4) - Congenital lymphedema, chylous ascites, bilateral pleural effusions
65
Hereditary Hemorrhagic Telangiectasia (Osler-Weber- Rendu)
Hereditary Hemorrhagic Telangiectasia (Osler-Weber- Rendu) - AD - ENG (endoglin) & ACVRL1 (ALK1) - Pulmonary and hepatic AVMs, recurrent epistaxis, visceral hemorrhages (especially GI), telangiectasias
66
Hermansky-Pudlak syndrome (HPS)
Hermansky-Pudlak syndrome (HPS) - AR - HPS (lysosomal transport protein) - Oculocutaneous albinism, no dense bodies in platelets, incr bleeding, granulomatous colitis, pulmonary fibrosis
67
Hidrotic Ectodermal Dysplasia (Clouston Syndrome)
Hidrotic Ectodermal Dysplasia (Clouston Syndrome) - AD - GJB6 (connexin 30: gap junction protein) - PPK, nail dystrophy, sparse hair, patchy alopecia, normal teeth, normal sweating, tufting of the terminal phalanges
68
Holocarboxylase Synthetase Deficiency
Holocarboxylase Synthetase Deficiency - - HLCS (holocarboxylase synthetase) - Alopecia, perioral and perianal scaly dermatitis, lethargy, difficulty feeding
69
Homocystinuria
Homocystinuria - AR - CBS (cystathione _-synthetase) - Marfanoid habitus, downward displaced lens (ectopia lentis), thromboembolic events, neurologic features
70
Howel-Evans Syndrome (Tylosis-Esophageal Carcinoma)
Howel-Evans Syndrome (Tylosis-Esophageal Carcinoma) - AD - TOC (envoplakin) - Focal PPK over pressure areas (balls of feet > hands), oral leukokeratosis, incr esophageal carcinoma
71
Hunter Syndrome
Hunter Syndrome - XLR - Iduronate-2-sulfatase - Ivory-colored papules between scapula, cardiac involvment, joint stiffness, mental retardation
72
Hurler Syndrome
Hurler Syndrome - AR - _-L-iduronidase - No skin findings
73
Hyper-IgE Syndrome (Job Syndrome)
Hyper-IgE Syndrome (Job Syndrome) - AD (mainly) - STAT3 - Recurrent ‘cold’ staph infections, eczema, retained primary teeth, incr eosinophils, incr IgE
74
Hypohidrotic Ectodermal Dysplasia (HED) (Anhidrotic Ectodermal Dysplasia) (Christ-Siemens-Touraine)
Hypohidrotic Ectodermal Dysplasia (HED) (Anhidrotic Ectodermal Dysplasia) (Christ-Siemens-Touraine) - Various Inheriatance (see right) - XLR EDA (ectodysplasin A) - AD EDAR (EDA receptor) - AR NF-_B critical role - Hypotrichosis, decr++ sweating with heat intolerance, periorbital hyperpigmentation, peg-shaped teeth, anodontia, normal nails, saddle facies with large lips
75
Hypohidrotic ED with Immunodeficiency (HED-ID)
Hypohidrotic ED with Immunodeficiency (HED-ID) - XLR - NEMO (encodes protein nuclear factor NF-_B essential modulator) - Hypohidrotic ED, immune system abnormalities
76
Ichthyosis Bullosa of Siemens
Ichthyosis Bullosa of Siemens - AD - K2E (keratin 2e) - Hyperkeratotic ridged plaques in flexural areas; tonofilament clumping (upper spinous/granular layers: EM)
77
Ichthyosis, Lamellar (LI)
Ichthyosis, Lamellar (LI) - AR - TGM1 (transglutaminase 1) - Collodion membrane, plate-like scales, eclabium, ectropion (± incomplete lid closure with subsequent keratitis)
78
Ichthyosis, X-linked (XLI) (Steroid Sulfatase Deficiency)
Ichthyosis, X-linked (XLI) (Steroid Sulfatase Deficiency) - XLR - STS (steroid sulfatase) - Corneal opacities, cryptorchidism, testicular cancer, polygonal brown scales (invariably on the neck)
79
Icthyosis, Vulgaris
Icthyosis, Vulgaris - AD - FLG (filaggrin) - Dry skin with scaling (extensor extremities mainly)
80
Incontinentia Pigmenti (Bloch-Sulzberger Syndrome)
Incontinentia Pigmenti (Bloch-Sulzberger Syndrome) - XLD - NEMO (nuclear factor NF-_B essential modulator) - Peg-shaped teeth, eye abnormalities, alopecia, four stages (vesicular, verrucous, hyperpigmented, hypopigmented)
81
Kindler Syndrome
Kindler Syndrome - AR, AD - KIND1 (kindlin-1) - Congenital blistering and photosensitivity, poikiloderma with cutaneous atrophy, PPK
82
KID Syndrome (Keratitis-Ichthyosis-Deafness Syndrome)
KID Syndrome (Keratitis-Ichthyosis-Deafness Syndrome) - AD mainly sporadic - GJB2 (connexin 26) - Vascularizing keratitis, night blindness, PPK, photophobia, deafness, ichthyosis, symmetric hyperkeratotic ridged plaques (knees, elbows, face)
83
Leiomyomatosis (Reed Syndrome)
Leiomyomatosis (Reed Syndrome) - AD - FH (fumarate hydratase) - Cutaneous and uterine leiomyomas, renal cysts, renal cell cancer
84
LEOPARD Syndrome
LEOPARD Syndrome - AD - PTPN11 (protein tyrosine phosphatase non-receptor type 11) - Lentigines, ECG defects, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retarded growth, deafness
85
Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome - XLR - HGPRT (hypoxanthine-guanine phosphoribosyltransferase) - Hyperuricemia, self-mutilation, neurologic dysfunction, gout-like arthritis
86
Lhermitte-Duclos Syndrome (Dysplastic Gangliocytoma of the Cerebellum)
Lhermitte-Duclos Syndrome (Dysplastic Gangliocytoma of the Cerebellum) - AD (if with Cowden) - PTEN (tumor suppressor gene) - Slowly enlarging mass within cerebellar cortex, cerebellar signs, incr intracranial pressure, often associated with Cowden syndrome
87
Li-Fraumeni Syndrome
Li-Fraumeni Syndrome - AD - P53 (tumor suppressor gene) - incr Breast CA, incr brain tumors, incr osteosarcoma, incr leukemia (skin cancer not typical feature)
88
Lipoid Proteinosis (Urbach-Wiethe Disease)
Lipoid Proteinosis (Urbach-Wiethe Disease) - AR - ECM1 (extracellular matrix protein 1) - Waxy yellow papules on face, thick tongue, hoarse cry, hippocampal calcifications, alopecia, row of beaded papules along eyelid margin (string of pearls)
89
Lymphedema-Distichiasis Syndrome
Lymphedema-Distichiasis Syndrome - AD - FOXC2 (forkhead box protein C2: transcription factor) - Lower-limb lymphedema starting in late childhood, distichiasis (eyelash abnormality ranging from set of extra eyelashes to a single hair)
90
Maffucci Syndrome
Maffucci Syndrome - Sporadic - Maybe PTHR1 (parathyroid hormone receptor type 1) - Venous malformations of distal extremities, endochrondromas, chondrosarcomas
91
Mal de Meleda
Mal de Meleda - AR - SLURP1 (encodes protein: secreted Ly-6/uPar related protein) - Transgriedent PPK (hands, feet, elbows, knees), hyperhidrosis with malodor and secondary infections, perioral erythema
92
McCune-Albright Sydrome (Polyostotic Fibrodysplasia)
McCune-Albright Sydrome (Polyostotic Fibrodysplasia) - Sporadic - GNAS1 (_ subunit of stimulatory G protein, Gs, of adenylate cyclase) - Precocious puberty, endocrine hyperfunction, large café-au-lait pigmentation (‘coast of Maine’), fibrous dysplasia of bones (may lead to pathological fractures)
93
MEN 1 (Wermer Syndrome)
MEN 1 (Wermer Syndrome) - AD - MEN1 (menin: tumor suppressor gene) - Tumors (parathyroid, pituitary, pancreatic), collagenomas, lipomas, multiple angiofibromas (occurs later than in tuberous sclerosis)
94
MEN 2a (Sipple syndrome)
MEN 2a (Sipple syndrome) - AD - RET (renin proto-oncogene: tyrosine kinase receptor) - Macular amyloidosis, hyperparathyroidism, medullary thyroid carcinoma, pheochromocytoma
95
MEN 2b
MEN 2b - AD - RET (renin proto-oncogene: tyrosine kinase receptor) - Mucosal neuromas with thickened lips, marfanoid habitus, medullary thyroid carcinoma, pheochromocytoma, GI problems (i.e. diverticulosis)
96
Menkes Disease (Menkes Kinky Hair Disease)
Menkes Disease (Menkes Kinky Hair Disease) - XLR - MNK (also known as ATP7a, copper transporting ATPase) - Doughy skin, sparse short hair, pili torti, seizures, growth failure, hypotonia, mental retardation
97
MIDAS Syndrome
MIDAS Syndrome - XLD - HCCS (Holocytochrome c-type synthase) - Microphthalmia, dermal aplasia, sclerocornea, ± cardiac arrhythmias
98
Monilethrix (Beaded Hair)
Monilethrix (Beaded Hair) - AD - K86, K81 (human hair keratin: hHb6 and hHb1) - Normal hair at birth _ fragile, brittle short hair first few months later, keratosis pilaris, monilethrix (hair fibers with elliptical nodes alternating with abnormal constrictions)
99
Muckle-Wells Syndrome (Urticara-Deafness-Amyloidosis)
Muckle-Wells Syndrome (Urticara-Deafness-Amyloidosis) - AD - CIAS1 (cryopryin) - Episodic fevers, lancinating limb pain, urticaria-like eruption, progressive deafness, ± amyloidosis (AA)
100
Muir-Torre Syndrome
Muir-Torre Syndrome - AD - MSH2, MLH1, MSH6 (DNA mismatch repair genes) - Sebaceous adenomas and carcinomas, keratoacanthomas, colon cancer
101
Nail-Patella Syndrome (Hereditary Osteo-Onychodysplasia) (HOOD)
Nail-Patella Syndrome (Hereditary Osteo-Onychodysplasia) (HOOD) - AD - LMX1B (transcription factor that regulates collagen synthesis) - Triangular lunulae, hypoplastic nails, absent patella, scapular thickening, Lester iris, radial head abnormalities, iliac crest exostoses
102
Naxos Disease
Naxos Disease - AR - Plakoglobin (cell adhesion protein) - Woolly hair, diffuse PPK, right ventricular cardiomyopathy and arrhythmia
103
Neimann-Pick Disease
Neimann-Pick Disease - AR - SMPD1 (sphingomyelinase) - Hepatosplenomegaly, thrombocytopenia, ataxia, dysarthria, dystonia, seizures
104
Netherton Syndrome
Netherton Syndrome - AR - SPINK5 (LEKTI: serine protease) - Ichthyosiform linearis circumflexa, atopic dermatitis, trichorrhexis invaginata
105
Neurofibromatosis I (Von Recklinghausen Disease)
Neurofibromatosis I (Von Recklinghausen Disease) - AD - NF1 (neurofibromin: tumor suppressor gene) - Lisch nodules, neurofibromas, café-au-lait macules, axillary/inguinal freckling, ± learning disabilities, incr tumors (i.e. optic gliomas, malignant peripheral nerve sheath tumors, CNS tumors, juvenile myelomonocytic leukemia)
106
Neurofibromatosis II
Neurofibromatosis II - AD - NF2 (schwannomin, also known as merlin) - CALMs, noncancerous tumors of nervous system (acoustic neuromas, meningiomas, spinal tumors)
107
Noonan Syndrome
Noonan Syndrome - AD - PTPN11 (protein tyrosine phosphatase SHP-2), KRAS, RAF1, SOS1 - Lymphedema, keloids, edema over hands/feet, poor tongue control, low-set ears, hypertelorism, low set hairline at nape of neck, webbed neck, short stature
108
Occipital Horn Syndrome [(X-linked Cutis Laxa) formerly known as EDS variant]
Occipital Horn Syndrome [(X-linked Cutis Laxa) formerly known as EDS variant] - XLR - ATP7A (copper transporting ATPase) - Skin and joint laxity, pili torti, vascular tortuosity, occipital horns (bilateral occipital exostoses of the skull)
109
Pachyonchia Congenita, Type I (Jadassohn-Lewandowsky)
Pachyonchia Congenita, Type I (Jadassohn-Lewandowsky) - AD - K6, K16 (Type 1) - Focal PPK, benign oral leukokeratosis, nail dystrophy (significant subungual hyperkeratosis)
110
Pachyonchia Congenita, Type II (Jackson-Lawler)
Pachyonchia Congenita, Type II (Jackson-Lawler) - AD - K6b, K17 (Type 2) - Nail dystrophy, steatocystomas, eruptive vellus hair cysts, natal teeth, pili torti
111
PAPA Syndrome
PAPA Syndrome - AD - CD2BP1 (CD2 binding protein 1) - Pyogenic arthritis, pyoderma gangrenosum, acne
112
Papillon-Lefèvre Syndrome
Papillon-Lefèvre Syndrome - AR - CTSC (cathepsin C) - Stocking glove PPK, periodontitis, premature tooth loss, dural calcifications
113
Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome - AD - STK11 (known as LKB1, serine/threonine kinase 11) - Perioral, intraoral and acral lentigines, GI polyps (mainly hamartomatous, not premalignant)
114
Phenylketonuria
Phenylketonuria - AR - PAH (phenylalanine hydroxylase) - Pigmentary dilution (blonde, blue eyes), eczematous dermatitis, seizures, mental retardation, mousy odor
115
PIBIDS
PIBIDS - AR - ERCC2/XPD (nucleotide excision repair) - Photosensitivity, ichthyosis, brittle hair, infertility, developmental delay, short stature
116
Piebaldism
Piebaldism - AD - KIT (proto-oncogene) (defect in migration/differentiation of melanoblasts from neural crest) - Poliosis (_ or absence of melanin in scalp hair or eyelashes) often with white forelock, focal areas of leukoderma
117
Porphyria Cutanea Tarda (Familial Porphyria Cutanea Tarda)
Porphyria Cutanea Tarda (Familial Porphyria Cutanea Tarda) - AD - UROD (uroporphyrinogen decarboxylase) - Cutaneous fragility of sun-exposed sites (bullae, erosions, milia, atrophic scars), temporal/malar hypertrichosis, indurated plaques on chest/back
118
Porphyria, Congenital Erythropoietic (Gunther)
Porphyria, Congenital Erythropoietic (Gunther) - AR - UROS (uroporphyrinogen III cosynthase) - PCT cutaneous findings (often more severe), hemolysis, erythrodontia, infections, hematologic complications
119
Porphyria, Hereditary Coproporphyria
Porphyria, Hereditary Coproporphyria - AD - CPO (coproporphyrinogen oxidase) - Dark urine, photosensitivity, PCT cutaneous findings, episodic attacks of abdominal pain, ± CNS changes
120
Porphyria, Variegate
Porphyria, Variegate - AD - PPO (protoporphyrinogen oxidase) - PCT cutaneous findings, neuropsychiatric symptoms
121
Porphyria, Acute Intermittent
Porphyria, Acute Intermittent - AD - PBD (porphobilinogen deaminase) - No skin manifestation
122
Porphyria, Erythropoietic Protoporphyria
Porphyria, Erythropoietic Protoporphyria - AD - Ferrochelatase - Photosensitivity with stinging, wax-like scarring, cholestasis, ± liver damage,
123
Progeria (Hutchinson-Gilford syndrome)
Progeria (Hutchinson-Gilford syndrome) - - LMNA (nuclear lamins A and C) - Premature aging, prominent scalp veins, beaked nose, scleroderma-like skin, short stature, alopecia, atherosclerosis, premature death
124
Pseudoxanthoma Elasticum
Pseudoxanthoma Elasticum - AR - ABCC6 (ABC cassette transporter MRP6) - Small yellow papules, cutaneous laxity (neck, axilla, groin), angioid streaks, calcification of elastic fibers (claudication, myocardial infarction)
125
Refsum Syndrome
Refsum Syndrome - AR - PHYH (PAHX) or PEX7 (_ peroxisomal enzyme: phytanoyl CoA hydroxylase) - Retinitis pigmentosa, deafness, peripheral neuropathy, mild ichthyosis, cerebellar ataxia
126
Richner-Hanhart Syndrome
Richner-Hanhart Syndrome - AR - TAT (hepatic tyrosine aminotransferase) - Pseudoherpetic keratitis, painful focal PPK
127
Rombo Syndrome
Rombo Syndrome - AD - Unknown - Atrophoderma vermiculatum, BCCs, hypotrichosis
128
Rothmund-Thomson Syndrome (Poikiloderma Congenitale)
Rothmund-Thomson Syndrome (Poikiloderma Congenitale) - AR - RECQL4 (DNA helicase) - Photosensitivity, absent radii, hypoplastic thumbs, premalignant acral keratoses, cataracts, alopecia, nail dystrophy, incr osteosarcoma and SCC
129
Rubenstein-Taybi Syndrome
Rubenstein-Taybi Syndrome - Sporadic mainly - CBP (CREB binding protein) - Heart defects, beaked nose, broad thumbs, capillary malformations, multiple pilomatricomas, keloids, short stature, mental retardation
130
Sjögren-Larsson Syndrome
Sjögren-Larsson Syndrome - AR - FALDH (fatty aldehyde dehydrogenase, aka ALDH3A2) - Ichthyosis, persistent pruritus, mental retardation, epilepsy, spastic di- or tetraplega, glistening white perifoveal dots in ocular fundus
131
Trichorhinophalangeal Syndrome
Trichorhinophalangeal Syndrome - Sporadic or AD - TRPS-1 - Bullous pear-shaped nose, shortened phalanges, brachydactyly, cone-shaped epiphyses
132
Tuberous Sclerosis
Tuberous Sclerosis - AD - TSC1 (hamartin gene) & TSC2 (tuberin gene) - Facial angiofibromas, ash-leaf macules, seizures, shagreen patch, periungual and gingival fibromas, dental enamel pits, neuropsychiatric defects
133
Uncombable Syndrome (Pili Trianguli Et Canaliculi)
Uncombable Syndrome (Pili Trianguli Et Canaliculi) - Sporadic or AD - Unknown - Stiff hair with ‘spun glass’ appearance and difficult to comb, triangular shaped shaft (longitudinal groove)
134
Vohwinkel, Classic (Mutilating PPK)
Vohwinkel, Classic (Mutilating PPK) - AD - GJB2 (connexin 26) - Ichthyosis, deafness, starfish-shaped keratotic plaques, pseudoainhum, honeycomb PPK
135
Vohwinkel, Variant
Vohwinkel, Variant - AD - Loricrin - Ichthyotic variant, no deafness
136
Waardenburg Syndrome
Waardenburg Syndrome - AD - PAX3 (transcription factor) & MITF, SOX10 - Dystopia canthorum, white forelock, heterochromia of the eyes, deafness, synophrys
137
Werner Syndrome (Adult Progeria)
Werner Syndrome (Adult Progeria) - AR - WRN (also known as RECQL2: DNA helicase) - Sclerodermoid changes, ulcerations over bony prominences, incr CA, premature aging (cataracts, diabetes mellitus, atherosclerosis, osteoporosis in 20s)
138
Wiskott-Aldrich Syndrome
Wiskott-Aldrich Syndrome - XLR - WASP - Eczema, thrombocytopenia, immune deficiency, incr pyogenic infections
