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先天性全身性脂肪营养不良 Berardinelli-Seip 型:一例罕见病例。

Congenital generalized lipodystrophy of Berardinelli-Seip type: a rare case.

机构信息

Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Dermatol Venereol Leprol. 2011 May-Jun;77(3):402. doi: 10.4103/0378-6323.79740.

Abstract

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.

摘要

伯-塞二氏先天性全身性脂肪营养不良症是一种罕见的常染色体隐性遗传病,其特征为几乎完全没有脂肪组织,导致全身肌肉外观明显,在出生时即可轻易识别。这种情况与各种皮肤和全身表现有关。我们报告了一例这种形式的脂肪营养不良症。患者有多种皮肤表现,包括严重的黑棘皮病、全身色素沉着过度、卷曲的头皮毛发、突出的皮下静脉和增大的阴蒂。她还患有乳糜泻。

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