Skin Signs of Systemic Disease

Question 1

Dermatomyositis

Answer 1

• Connective tissue disease associated with several cancers: ovarian, breast, lung, GI
• Presents as proximal muscle weakness and skin findings

Skin findings:

• Heliotrope rash: violaceous red hue of eyelids
• Gottron’s papules: papules over the PIP, DIP and MCP joints
• pruritus, scaling and violaceous dermatitis
• Photo-accentuation

Question 2

Pruritis

Answer 2

• Associated with Hodgkin’s lymphoma, lymphatic leukemia, Cutaneous T-Cell Lymphoma
• skin findings are secondary to the itch

Question 3

Aquagenic Pruritus

Answer 3

• itching due to exposure to water

- can be related to Polycythemia vera

Question 4

Psoriasiform dermatitis

Answer 4

• associated with solid organ cancers

- clinically mimics psoriasis (red scaly erythematous plaques), but histologically different

Question 5

Paraneoplastic pemphigus

Answer 5

• mucosal erosions, blisters, polymorphous lesions

- associated with B & T-cell lymphomas, Castleman’s tumor, thymomas

Question 6

URTICARIA/ANGIOEDEMA

Answer 6

• can be associated with B-cell Lymphoma and GI adenocarcinoma
• generally in older populations

Question 7

ERUPTIVE SEBORRHEIC KERATOSIS: SIGN OF LESER TRELAT

Answer 7

• suggests underlying carcinoma of the GI Tract

Question 8

Genodermatoses

Answer 8

• are inherited genetic skin conditions

1. CARNEY SYNDROME
2. PEUTZ-JEGHER SYNDROME
3. NEUROFIBROMATOSIS TYPE I

Question 9

Carney Syndrome

Answer 9

• skin, mucosal, eyelid, vaginal tissue involvement:
• mucosal pigmentation
• blue nevi
• lentigenes

Associated with:

• Myxoid neurofibromas
• Psammomatous melanotic schwannoma*
• Testicular tumors & thyroid ca
• Uterine leiomyomas

Question 10

Peutz-Jegher Syndrome

Answer 10

• Autosomal Dominant
• presents with perioral pigmentation (esp along vermilion border), mucosal, perianal, dorsal fingers and toes.
• Facial pigmentation fades, but remains on buccal mucosa, tongue, and palate
• Associated with Hamartomatous GI polyps

Question 11

Neurofibromatosis Type 1 (Von Recklinghausen disease)

Answer 11

• autosomal dominant
• Skin findings: axillary and pubic Café au lait spots

Extracutaneous findings:

• neurofibrosarcoma & rhabdommyosarcoma
• optic gliomas & astrocytomas
• JXG and leukemia (CMML, NHL, ALL)
• schwannoma

Question 12

Tuberous Sclerosis

Answer 12

• rare multi-system genetic disease that causes non-malignant tumors to grow in the brain and on other vital organs such as the kidneys, heart, eyes, lungs, and skin.
• autosomal dominant genetic disorder related to defects in hamartin and tuberin

Cutaneous findings:

• hypopigmented macules (most frequent)
• facial angiofibromas (adenoma sebaceum): little tiny fleshy papules
• periungual fibromas (nails) & forehead plaque
• collagenomas (shagreen patches)
• enamel teeth pits
• molluscum fibrosum pendulum (large acrochordons

Question 13

Birt-Hogg-Dube Syndrome

Answer 13

• human genetic disorder that involves susceptibility to renal cancer, renal and pulmonary cysts, colon cancer and noncancerous tumors of the hair follicles

Cutaneous findings: (involve face, lip, chest, and behind the ear)

• fibrofolliculomas
• trichodiscomas
• oral fibromas
• acrochordons
• lipomas
• collagenomas

Extracutaneous findings:

• Renal: oncocytomas and papillary carcinomas
• Colon: polyps, cancer
• Lungs: cysts, spontaneous pneumothorax

Question 14

Kaposi Sarcoma

Answer 14

• Low-grade malignant proliferation of endothelial cells
• Associated w/ HHV-8

Two forms:

• Classic- Mediterranean
• HIV associated

Skin Findings: violaceous purple patches, plaques, and nodules

Question 15

Cutaneous T-Cell Lymphoma / Mycosis fungiodes

Answer 15

• Early stages are localized to the skin

- Frequently misdiagnosed as chronic “eczema” or atopic dermatitis

Question 16

Acute Systemic Lupus Erythematosus

Answer 16

• Connective tissue disease
• Rash that spares the joints; it is in between the areas of the joints (vs. Gottron’s papules that are on the joints in Dermatomyositis)

Question 17

Discoid Lupus Erythematosus

Answer 17

• thicker lesions

- worse with photo exposure. Typically you will see it in areas like the face and arms that are photo-exposed

Question 18

Subacute Lupus Erythematosus

Answer 18

• rash with an annular pattern

Question 19

LE/ lichen planus overlap

Answer 19

• white lacey network is an important finding for lichen planus

Question 20

Vasculitis

Answer 20

• Necrotizing inflammation of blood vessels
• Most common variant- leukocytoclastic vasculitis (small vessel)

Cutaneous findings: palpable purpura (note: “flat purpura” = generally not vasculitis), usually on the lower legs

• Etiology: idiopathic, sign of underlying d/o (Connective Tissue Disease, drugs, hypersensitivity (HS), hepatitis, leukemia/lymphoma

Question 21

Erythema Nodosum

Answer 21

• Presents w/ Deep tender nodules
• W > M
  +/- constitutional sx
• Hypersensitivity rxn: Infections, drugs (ocps, sulfas), pregnancy, sarcoidosis, ulcerative colitis, TB

Question 22

Erythema Multiforme

Answer 22

• Target lesions, blisters
• Associated with HSV, mycoplasma, other viruses or medications ( PCN, Sulfas, Barbiturates)
• can be recurrent

Question 23

Toxic Epidermal Necrolysis

Answer 23

• Severe form of Steven’s Johnson syndrome (oral mucosa/lip involvement)
• characterized by diffuse sloughing of the skin, resembling a large burn
• most often due to adverse drug reaction

Question 24

Acanthosis Nigricans

Answer 24

• Velvety hyper-pigmentation - posterior neck and intertrigenous areas
• Associated with metabolic disorders: obesity, diabetes, HIV, gastrointestinal cancer, lipodystrophy syndromes, PCOS

Question 25

PCOS (Polycystic ovary syndrome)

Answer 25

• Increased facial hair
• Acne-hormonal distribution
• Acanthosis nigricans

Question 26

Xanthomas

Answer 26

• Familial and acquired hyperlipidemias
• Acquired types associated with: diabetes, hypothyroidism, biliary cirrhosis, myeloma, nephrosis, and glycogen storage disease