Acanthosis nigricans and congenital total lipodystrophy. Associated anomalies observed in two siblings

Abstract

Congenital total lipodystrophy, a rare condition only recently recognized, has been observed in 2 siblings and followed for 6 years. The outstanding characteristics of the syndrome are complete absence of the panniculus with prominence of the muscles, hepatomegaly, accelerated linear growth and bony maturation, hyperlipemia, and disturbance of carbohydrate metabolism. Insulin-resistant diabetes mellitus may develop after puberty. Striking dermatologic features, particularly hypertrichosis and hyperpigmentation, are also among the earliest signs. Both these patients presented congenital acanthosis nigricans, diagnosed in only 1 earlier case. Findings suggestive of acanthosis nigricans have been described in other reports. A diabetic trend in one of our patients has been observed recently. The relationship of acanthosis nigricans to congenital total lipodystrophy and to diabetes is uncertain at the present time.