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Indian Journal of Dermatology, Venereology and Leprology
Medknow Publications on behalf of The Indian Association of Dermatologists, Venereologists and Leprologists (IADVL)
ISSN: 0378-6323 EISSN: 0378-6323
Vol. 74, No. 6, 2008, pp. 644-646
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Bioline Code: dv08260
Full paper language: English
Document type: Case Report
Document available free of charge
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Indian Journal of Dermatology, Venereology and Leprology, Vol. 74, No. 6, 2008, pp. 644-646
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Berardinelli-Seip Syndrome in a 6-Year-Old Boy
Babu, Priya; Sharma, Rakesh; Jayaseelan, Elizabeth & Appachu, Divya
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.
Keywords
Acanthosis nigricans, Berardinelli-Seip syndrome, Congenital generalized lipodystrophy, Lawrence-Seip syndrome
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© Copyright 2008 Indian Journal of Dermatology, Venereology and Leprology. Alternative site location: http://www.ijdvl.com
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