Hereditary syndromes predisposing to endocrine tumors and their skin manifestations

Abstract

We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations. In this review, we present extensively the MEN-1, MEN-2 and PJS syndromes, and briefly refer to CD, NF-1, and TSC. CNC is discussed in another article in this journal issue.

Keywords: Cowden disease; Hereditary tumor syndrome; Multiple endocrine neoplasia; Neurofibromatosis type 1; Peutz-Jeghers syndrome; Tuberous sclerosis.

Figure 1

Lichen amyloidosis in a patient with MEN2A

Figure 2

A, B, C: Lip, oral mucosa, and peri-oral pigmentation in a patient with PJS; D: Other pigmented lesions, such as café-au-lait spots, are also frequent in patients with PJS; E, F, G, H: some times, pigmented spots and nevi are found in unusual spots in patients with PJS.

Figure 3

A,: Multiple neurofibromas and pigmented skin lesions, as well as skeletal deformities in a patient with NF-1; B: Axillary freckling in the same patient.