To review the main cutaneous manifestations of hereditary endocrine tumor syndromes and discuss currently known molecular mechanisms involved in their pathogenesis. On the basis of our collective experience and a comprehensive MEDLINE literature search of the English-language literature published between January 1957 and September 2010 using the search terms "skin," "cutaneous," "multiple endocrine neoplasia," "Carney complex," and "McCune-Albright syndrome," we reviewed the dermatologic findings in multiple endocrine neoplasia type 1 and type 2, Carney complex, and McCune-Albright syndrome. Although the category of hereditary endocrine tumor syndromes consists of a broad spectrum of conditions, only the aforementioned few are prominently associated with cutaneous features. Because the cutaneous findings associated with these diseases are generally benign, they are often ignored or dismissed as ancillary findings in the context of severe systemic involvement. Accordingly, the pertinent literature is relatively scarce and often fails to provide a comprehensive insight about this issue. Nevertheless, timely recognition of such dermatologic manifestations may have a critical role in the early diagnosis and appropriate management o...Continue Reading
Linear cutaneous neuromas (dermatoneurie en stries): a limited phakomatosis with striated pigmentation corresponding to cutaneous hyperneury (featuring multiple endocrine neoplasia syndrome?)
Hypophosphatemic rickets/osteomalacia in linear sebaceous nevus syndrome: a variant of tumor-induced osteomalacia
Identification of the Cys634-->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis
RET mutation screening in familial cutaneous lichen amyloidosis and in skin amyloidosis associated with multiple endocrine neoplasia
Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subjects with familial multiple endocrine neoplasia type 1
Multiple idiopathic mucosal neuromas: a minor form of multiple endocrine neoplasia type 2B or a new entity?
Cutaneous tumors in patients with multiple endocrine neoplasia type 1 show allelic deletion of the MEN1 gene
Activating mutation of GS alpha in McCune-Albright syndrome causes skin pigmentation by tyrosinase gene activation on affected melanocytes
Malignant melanoma in patients with multiple endocrine neoplasia type 1 and involvement of the MEN1 gene in sporadic melanoma
Renal phosphate wasting in fibrous dysplasia of bone is part of a generalized renal tubular dysfunction similar to that seen in tumor-induced osteomalacia
Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules
Pigmented epithelioid melanocytoma: a low-grade melanocytic tumor with metastatic potential indistinguishable from animal-type melanoma and epithelioid blue nevus
Cutaneous tumors in patients with multiple endocrine neoplasm type 1 (MEN1) and gastrinomas: prospective study of frequency and development of criteria with high sensitivity and specificity for MEN1
The lentiginoses: cutaneous markers of systemic disease and a window to new aspects of tumourigenesis
Loss of expression of protein kinase a regulatory subunit 1alpha in pigmented epithelioid melanocytoma but not in melanoma or other melanocytic lesions
Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors
Carney complex syndrome manifesting as cardioembolic stroke: a case report and review of the literature.
Autoimmune Polyendocrine Syndromes
This feed focuses on a rare genetic condition called Autoimmune Polyendocrine Syndromes, which are characterized by autoantibodies against multiple endocrine organs. This can lead to Type I Diabetes.