Abstract
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.
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© 2006 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
