Dermatologic manifestations of parathyroid-related disorders.
Dermatologic manifestations of parathyroid-related disorders, although rare in sporadic cases, are not uncommon in familial syndromes. Patients with familial hyperparathyroidism have several types of skin lesions. In multiple endocrine neoplasia 1, patients commonly have angiofibromas (85%) and collagenomas (70%), lesions that show loss of one 11q13 allele, the molecular abnormality in multiple endocrine neoplasia 1. They can also present with lipomas or café-au-lait spots. Cutaneous amyloidosis, an entity that can occur sporadically, has been described in multiple endocrine neoplasia 2a and is usually localized to the interscapular area. Metastatic calcification is an entity commonly encountered in patients with hyperparathyroidism and renal failure. It can be complicated by infections and necrosis. It is best treated by controlling hypercalcemia, hyperphosphatemia, hyperparathyroidism, antibiotics, and analgesia. Parathyroidectomy is reserved for refractory cases. Hypoparathyroidism presenting in the context of polyglandular failure type 1 is characterized by mucocutaneous candidiasis. Pseudohypoparathyroidism, an inherited disorder with end-organ unresponsiveness to parathyroid hormone, is characterized by Albright hereditary osteodystrophy. Patients present with short stature, round facies, brachydactyly, and short fourth or fifth metacarpals.
Fuleihan
Ghada El-Hajj
Gel-H
Division of Endocrinology, Department of Internal Medicine, American University of Beirut Medical Center, PO Box 11-0236, 4407 2020 Beirut, Lebanon. gf01@aub.edu.lb
Rubeiz
Nelly
N
D006801:Humans; D009377:Multiple Endocrine Neoplasia / Q000145:classification / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010279:Parathyroid Diseases / Q000209:etiology / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000628:therapy; D012878:Skin Neoplasms / Q000235:genetics / Q000473:pathology