More than just skin deep: faciocutaneous clues to genetic syndromes with malignancies.

[cowden syndrome]

Genetic syndromes with dermatologic findings and multisystemic involvement (e .g ., visceral cancer predisposition ) are underrecognized . Patients may have incomplete penetrance and variable expressivity ; some patients may solely exhibit subtle skin signs , which create a diagnostic challenge for physicians . Interdisciplinary diagnostic knowledge is required for the early diagnosis and monitoring of patients with these syndromes . Cutaneous changes in the face-one of the most highly exposed areas -can be easily noticed by patients themselves , their families and friends , and physicians ; these changes may serve as early indicators of genetic syndromes with malignancies . In this article , we present examples of genetic syndromes with malignancies for which a thorough faciocutaneous examination is helpful in establishing a diagnosis . These examples include lentiginosis-related syndromes (e .g ., Peutz-Jeghers syndrome , Carney complex ), photosensitivity -related syndromes (Bloom syndrome , Rothmund-Thomson syndrome ), and hamartoma -related syndromes (Cowden syndrome , multiple endocrine neoplasia syndrome , tuberous sclerosis complex , Gardner syndrome , Muir-Torre syndrome ). The characteristics of these faciocutaneous clues are summarized and discussed . Objective evaluation of these faciocutaneous clues in combination with other clinical information (e .g ., family history , histopathological findings , combination with other concomitant faciocutaneous lesions ) is emphasized to narrow the diagnosis . The list of genetic syndromes with faciocutaneous manifestations is still expanding . Increased awareness of faciocutaneous markers can alert physicians to underlying syndromes and malignancies , render earlier screening and detection of associated medical issues , and allow for genetic counseling of family members .

Diseases
Validation

Diseases presenting "cancer" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

alpha-thalassemia

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

carcinoma of the gallbladder

cholangiocarcinoma

coats disease

congenital adrenal hyperplasia

congenital diaphragmatic hernia

cowden syndrome

cushing syndrome

cutaneous mastocytosis

dedifferentiated liposarcoma

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

heparin-induced thrombocytopenia

hereditary cerebral hemorrhage with amyloidosis

hirschsprung disease

hodgkin lymphoma, classical

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

locked-in syndrome

lymphangioleiomyomatosis

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

pendred syndrome

pleomorphic liposarcoma

primary effusion lymphoma

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

werner syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated