Letter to the Editor
Adrenal function and MC1R gene analysis in a prepubertal girl with generalized hyperpigmentation: case report
More details
Hide details
Submission date: 2011-04-12
Final revision date: 2011-10-06
Acceptance date: 2011-10-17
Online publication date: 2013-02-28
Publication date: 2013-08-31
Arch Med Sci 2013;9(4):761-764
The generalized skin hyperpigmentation (GHPT) is visible in a number of diseases such as Addison’s disease (AD). We present an 11-year-old hyperpigmented girl who arrived at our hospital with a suspicion of AD. She had diffuse grey-brownish discoloration of the skin present since birth. Adrenal function tests excluded primary adrenal failure and ACTH excess. Skin biopsy showed an increased pigmentation of the epidermal basal layer and melanin aggregates within melanophages of the stratum papillare. Molecular analysis of MC1R gene did not show any defects. This case may represent a rare and novel variant of a familial progressive disorder of hyperpigmentation.
Journals System - logo
Scroll to top