| NET CASE |
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| Year : 2011 | Volume
: 77
| Issue : 3 | Page : 402- |
Congenital generalized lipodystrophy of Berardinelli-Seip type: A rare case
Sujay Khandpur1, Amrendra Kumar1, Rajesh Khadgawat2
1 Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India
2 Department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India
Correspondence Address:
Sujay Khandpur
Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi
India
DOI: 10.4103/0378-6323.79740 PMID: 21508592
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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