Cutaneous Manifestations of Internal Disease & Metastasis Chapter 10 Flashcards
Recurrent orogenital ulcers, acral and facial vesicopustules, palpable purpura, erythema nodosum-like lesions (favor women on legs, buttocks), and pathergy seen in?
Behçet disease
Important associated findings with Birt-Hogg-Dubé syndrome?
■ 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
Birt-Hogg-Dubé syndrome (Folliculin (FLCN) gene mutation) 4 cutaneous findings?
Fibrofolliculomas
Trichodiscomas
Perifollicular fibromas
Acrochordons
Cardiofaciocutaneous (CFC) syndrome associations?
pulmonic stenosis
hypertrophic cardiomyopathy
Cardiofaciocutaneous (CFC) syndrome genetics?
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)
RASopathies?
CFC, NF1, Noonan, Costello syndromes, and LEOPARD
LAMB stands for?
LAMB = Lentigines, Atrial myxoma, Mucocutaneous myxomas, Blue nevi
XLR cutis laxa is also called?
Occipital horn syndrome
Occipital horn syndrome internal organ dysfunction?
Aortic dilation, rupture
GI diverticulae, hernia’s
Bronchiectasis and pulmonary stenosis
Most dangerous form of EDS?
Vascular (Type 4) due to risk of arterial rupture and death
Skin hyperelasticity and fragility, “cigarette paper” and “fish mouth” scars, ecchymoses, Gorlin sign, and molluscoid pseudotumors is?
Classic Ehlers-Danlos syndrome
Associations with erythroderma?
High-output cardiac failure, sepsis, ARDS, capillary leak syndrome, extensive telogen effluvium, severe itching, fever chills, secondary infections
What compound is deposited in tissues in Fabry’s disease?
Globotriaosylceramide deposits in tissues → end-organ damage
What pathway is defected in Hereditary hemorrhagic telangiectasia?
TGF-b transduction pathway:
■ HHT1 = endoglin (ENG) > lung
■ HHT2 = Alk-1 (ACVRL1) > liver
■ HHT with juvenile polyposis 5 SMAD4
Which type of hereditary hemorrhagic telangiectasia is implicated with AV malformations in the lung?
HHT-1, AV malformations of lungs (endoglin mutation)
Mnemonic: “Alk-1 is a/w liver” (think of Alkaline phosphatase, which is found in liver)
Homocystinuria eye fx?
Ectopia lentis (downward lens dislocation); Marfan’s is upward lens dislocation
Homocystiuria associations?
- A/w atherosclerosis, vascular thrombosis (arterial + venous), genu valgum
- A/w intellectual disability, seizures, frequent fractures
Pathognomonic “Plane xanthomas of palmar creases” is associated with which hyperlipoproteinemia?
Type III
Tendinous, tuberous, tuboeruptive, interdigital xanthomas pathognomonic for which hyperlipoproteinemia?
Type II
NF1 leukemia risk?
Juvenile myelomonocytic leukemia
Progeria CVD risks?
Death due to atherosclerosis, MI, or stroke
Erythema marginatum, in Rheumatic fever
“apple jelly” color on diascopy seen in?
Granulomatous disorders:
-Sarcoidosis
-Lupus vulgaris
-Lupoid rosacea
-Lupoid leishmaniasis
Libman-Sacks endocarditis (nonbacterial) is seen in?
SLE
Triad of yellow nail syndrome?
Yellow nails, lymphedema, and pulmonary disease (bronchiectasis and pleural effusions)
Necrobiosis lipoidica diabeticorum is associated with?
A/w diabetic nephropathy, retinopathy, and smoking
Mucocutaneous finding in MEN syndromes?
■ MEN 1 = TS-like changes
■ MEN 2a = amyloid
■ MEN 2b = mucosal neuromas, marfanoid features
Lipomas, penile lentigines, and vascular malformations?
Bannayan-Riley-Ruvalcaba syndrome
