Literature DB >> 21508592

Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case.

Sujay Khandpur1, Amrendra Kumar, Rajesh Khadgawat.   

Abstract

Congenital generalized lipodystrophy of Berardinelli-Seip type is a rare autosomal recessive disorder characterized by nearly complete absence of adipose tissue and a consequent generalized muscular appearance, which is recognized easily at birth. The condition is associated with various dermatological and systemic manifestations. We report a case of this form of lipodystrophy. The patient had several cutaneous manifestations, including severe acanthosis nigricans, generalized hyperpigmentation, curly scalp hair, prominent subcutaneous veins, and enlarged clitoris. She also had associated celiac disease.

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Year:  2011        PMID: 21508592     DOI: 10.4103/0378-6323.79740

Source DB:  PubMed          Journal:  Indian J Dermatol Venereol Leprol        ISSN: 0378-6323            Impact factor:   2.545


  1 in total

1.  Do you know this syndrome? Berardinelli-Seip syndrome.

Authors:  Pedro Vale Machado; Egon Luiz Rodrigues Daxbacher; Daniel Lago Obadia; Edna Ferreira da Cunha; Maria de Fátima Guimarães Scotelaro Alves; Danielle Mann
Journal:  An Bras Dermatol       Date:  2013 Nov-Dec       Impact factor: 1.896

  1 in total

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