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 CASE REPORT
Year : 2008  |  Volume : 74  |  Issue : 6  |  Page : 644--646

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


Department of Dermatology, St. John's Medical College Hospital, Bangalore, India

Correspondence Address:
Priya Babu
179, Defence Officer's Colony, Ekkatuthangal, Chennai - 600 032, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0378-6323.45112

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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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Online since 15th March '04
Published by Wolters Kluwer - Medknow