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

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.