More Than Just Skin Deep: Faciocutaneous Clues to Genetic Syndromes with Malignancies

Abstract

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. The Oncologist 2012;17:930 -936

Rhinophyma in tuberous sclerosis complex: case report with brief review of literature

“…Clinical dominant findings are epileptic seizures and cognitive disabilities. Public awareness is meager about genetic syndromes with prominent skin alterations and multi-organ involvement, including a predisposition for cancer [ 28 ]. These rare diseases often have incomplete penetrance and variable expressivity.…”

“…Hamartomas in various organs are the hallmark of the disease. Faciocutaneous manifestations of hamartomas are diverse and appear to be frequently neglected in clinical practice [ 28 ]. They occur in more than 90% of TSC patients [ 32 ].…”

“…Growth spurts are frequently observed at the end of puberty [ 4 ]. However, facial angiofibroma may develop throughout life [ 28 ], [ 32 ]. Patients older than 20 years of age appear to experience less recurrence of angiofibroma after surgical treatment than younger individuals.…”

“…Facial angiofibroma (adenoma sebaceum) is the best known skin alteration in TSC [ 31 ]. TSC belongs to the group of phacomatoses [ 31 ] and these diseases are conspicuous due to their alterations of the integument that should alert the clinician to look for other signs and symptoms of these multisystem diseases [ 28 ]. Interdisciplinary diagnosis and treatment is required in TSC [ 14 ].…”

Faciocutaneous Cancer Syndromes: Spot the Diagnosis

“…In this issue of the journal, Shen et al [1] highlight a collection of cutaneous physical signs discernible on physical examination that are associated with a variety of cutaneous disorders with heightened cancer risk. The associated changes in skin and skin appendages for a series of disorders are discussed along with their expected malignancies.…”