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Berardinelli-Seip syndrome in a 6-year-old boy

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Author(s): Babu Priya | Sharma Rakesh | Jayaseelan Elizabeth | Appachu Divya

Journal: Indian Journal of Dermatology, Venereology and Leprology
ISSN 0378-6323

Volume: 74;
Issue: 6;
Start page: 644;
Date: 2008;
Original page

Keywords: Acanthosis nigricans | Berardinelli-Seip syndrome | Congenital generalized lipodystrophy | Lawrence-Seip syndrome

ABSTRACT
A 6-year-old boy presented with abnormal habitus since birth, delayed language development, history of frequent falls since 9 months, and fever since 1 week. He was found to have hyperandrogenic features, generalized paucity of fat, generalized muscular overdevelopment, and brownish pigmentation over the flexural creases. Skin biopsy demonstrated features suggestive of acanthosis nigricans with an absence of subcutaneous tissue. After further investigation, a diagnosis of Berardinelli-Seip syndrome with bilateral pneumonia and generalized tonic clonic seizures was made. Clinical features, histopathology, differential diagnosis, and prognosis of this rare disorder have been discussed.
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