Abstract
Dermatologists may also encounter patients presenting with skin lesions that reflect
an underlying endocrine disorder not commonly seen in daily practice. Some of these
endocrine disorders include glucagonoma, neurofibromatosis type 1, McCune-Albright
syndrome, multiple endocrine neoplasia, the Carney complex, carcinoid tumors, and
mastocytosis. The clinical syndrome classically associated with glucagonoma includes
necrolytic migratory erythema, weight loss, diabetes mellitus, anemia, cheilitis,
venous thrombosis, and neuropsychiatric symptoms. The hallmarks of neurofibromatosis
type 1 are the multiple café-au-lait spots and associated cutaneous neurofibromas.
Other presenting features include freckling, peripheral neurofibromas, Lisch nodules,
bone abnormalities, tumors, neurologic abnormalities and hypertension. McCune-Albright
syndrome is characterized by café-au-lait spots, polyostotic fibrous dysplasia, sexual
precocity, and hyperfunction of multiple endocrine glands. Multiple endocrine neoplasia
type 2A is characterized by medullary thyroid cancer, pheochromocytoma, and primary
parathyroid hyperplasia. In some patients with multiple endocrine neoplasia type 2A,
cutaneous lichen amyloidosis may also be present. Multiple endocrine neoplasia type
2B is characterized by medullary thyroid cancer and pheochromocytoma but not hyperparathyroidism.
The syndrome also includes mucosal neuromas, typically involving the lips and tongue,
intestinal ganglioneuromas and a marfanoid habitus. Multiple endocrine neoplasia type
1 is an autosomal dominant predisposition to tumors of the parathyroid glands (four-gland
hyperplasia), anterior pituitary, and pancreatic islet cells; hence, the mnemonic
device of the “3 Ps”; multiple cutaneous lesions (angiofibromas and collagenomas)
are frequent in patients with multiple endocrine neoplasia type 1. Carney complex
may be viewed as a form of multiple endocrine neoplasia because affected patients
often have tumors of two or more endocrine glands, including primary pigmented nodular
adrenocortical disease (some with Cushing's syndrome), pituitary adenoma, testicular
neoplasms, thyroid adenoma or carcinoma, and ovarian cysts. Additional unusual manifestations
include psammomatous melanotic schwannoma, breast ductal adenoma, and a rare bone
tumor, osteochondromyxoma. Carcinoid syndrome is the term applied to a constellation
of symptoms mediated by various humoral factors elaborated by some carcinoid tumors;
the major manifestations are diarrhea, flushing, bronchospasm, and cardiac valvular
lesions. Mast cell diseases include all disorders of mast cell proliferation. These
diseases can be limited to the skin, referred to as “cutaneous mastocytosis,” or involve
extracutaneous tissues, called “systemic mastocytosis.” Patients present with urticaria
pigmentosa, mastocytoma, or diffuse cutaneous mastocytosis. Systemic involvement may
be gastronintestinal, hematologic, neurologic, and skeletal.
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