Cutaneous Manifestations of Internal Disease & Metastasis Chapter 10

Question 1

Recurrent orogenital ulcers, acral and facial vesicopustules, palpable purpura, erythema nodosum-like lesions (favor women on legs, buttocks), and pathergy seen in?

Answer 1

Behçet disease

Question 2

Important associated findings with Birt-Hogg-Dubé syndrome?

Answer 2

■ Pulmonary cysts (most common; up to 90%) lead to spontaneous pneumothorax (30%)
■ Renal tumors (higher in men over 40), including renal carcinomas (15%, most commonly chromophobe renal carcinoma and oncocytoma)
■ Medullary thyroid carcinoma

Question 3

Birt-Hogg-Dubé syndrome (Folliculin (FLCN) gene mutation) 4 cutaneous findings?

Answer 3

Fibrofolliculomas
Trichodiscomas
Perifollicular fibromas
Acrochordons

Question 4

Cardiofaciocutaneous (CFC) syndrome associations?

Answer 4

pulmonic stenosis
hypertrophic cardiomyopathy

Question 5

Cardiofaciocutaneous (CFC) syndrome genetics?

Answer 5

BRAF (most common)
KRAS
MAP2K1/2 pathway genes

Coarse facies, generalized ichthyosis- like scaling, keratosis pilaris, café-au-lait macules (CALMs), nevi, sparse curly and brittle hair, sparse/absent eyebrows, low posterior hairline, patchy alopecia, eczema, palmoplantar keratoderma (PPK)

Question 6

RASopathies?

Answer 6

CFC, NF1, Noonan, Costello syndromes, and LEOPARD

Question 7

LAMB stands for?

Answer 7

LAMB = Lentigines, Atrial myxoma, Mucocutaneous myxomas, Blue nevi

Question 8

XLR cutis laxa is also called?

Answer 8

Occipital horn syndrome

Question 9

Occipital horn syndrome internal organ dysfunction?

Answer 9

Aortic dilation, rupture
GI diverticulae, hernia’s
Bronchiectasis and pulmonary stenosis

Question 10

Most dangerous form of EDS?

Answer 10

Vascular (Type 4) due to risk of arterial rupture and death

Question 11

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

Answer 11

Classic Ehlers-Danlos syndrome

Question 12

Associations with erythroderma?

Answer 12

High-output cardiac failure, sepsis, ARDS, capillary leak syndrome, extensive telogen effluvium, severe itching, fever chills, secondary infections

Question 13

What compound is deposited in tissues in Fabry’s disease?

Answer 13

Globotriaosylceramide deposits in tissues → end-organ damage

Question 14

What pathway is defected in Hereditary hemorrhagic telangiectasia?

Answer 14

TGF-b transduction pathway:
■ HHT1 = endoglin (ENG) > lung
■ HHT2 = Alk-1 (ACVRL1) > liver
■ HHT with juvenile polyposis 5 SMAD4

Question 15

Which type of hereditary hemorrhagic telangiectasia is implicated with AV malformations in the lung?

Answer 15

HHT-1, AV malformations of lungs (endoglin mutation)
Mnemonic: “Alk-1 is a/w liver” (think of Alkaline phosphatase, which is found in liver)

Question 16

Homocystinuria eye fx?

Answer 16

Ectopia lentis (downward lens dislocation); Marfan’s is upward lens dislocation

Question 17

Homocystiuria associations?

Answer 17

• A/w atherosclerosis, vascular thrombosis (arterial + venous), genu valgum
• A/w intellectual disability, seizures, frequent fractures

Question 18

Pathognomonic “Plane xanthomas of palmar creases” is associated with which hyperlipoproteinemia?

Answer 18

Type III

Question 19

Tendinous, tuberous, tuboeruptive, interdigital xanthomas pathognomonic for which hyperlipoproteinemia?

Answer 19

Type II

Question 20

NF1 leukemia risk?

Answer 20

Juvenile myelomonocytic leukemia

Question 21

Progeria CVD risks?

Answer 21

Death due to atherosclerosis, MI, or stroke

Question 22

Answer 22

Erythema marginatum, in Rheumatic fever

Question 23

“apple jelly” color on diascopy seen in?

Answer 23

Granulomatous disorders:
-Sarcoidosis
-Lupus vulgaris
-Lupoid rosacea
-Lupoid leishmaniasis

Question 24

Libman-Sacks endocarditis (nonbacterial) is seen in?

Answer 24

SLE

Question 25

Triad of yellow nail syndrome?

Answer 25

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

Question 26

Necrobiosis lipoidica diabeticorum is associated with?

Answer 26

A/w diabetic nephropathy, retinopathy, and smoking

Question 27

Mucocutaneous finding in MEN syndromes?

Answer 27

■ MEN 1 = TS-like changes
■ MEN 2a = amyloid
■ MEN 2b = mucosal neuromas, marfanoid features

Question 28

Lipomas, penile lentigines, and vascular malformations?

Answer 28

Bannayan-Riley-Ruvalcaba syndrome