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遗传性泛发性色素异常症:两例报告。

Dyschromatosis universalis hereditaria: two cases.

作者信息

Kenani N, Ghariani N, Denguezli M, Sriha B, Belajouza C, Nouira R

机构信息

Department of Dermatology, Chu Farhat Hached Sousse, Tunisia.

出版信息

Dermatol Online J. 2008 Feb 28;14(2):16.

Abstract

Dyschromatosis universalis hereditaria is a rare genodermatosis reported initially and mainly in Japan. However, subsequent cases have been reported from other countries. We describe two Tunisian cases of dyschromatosis universalis hereditaria in a 3-year-old and a 3-month-old girl. They presented to our department with asymptomatic progressive mottled pigmentation over the trunk and limbs, which had been noted since birth and had become more noticeable with age. Palms and soles were also affected in the first case. The two patients did not have any systemic or other cutaneous illness. They were born to healthy, second-degree consanguineous parents (case 1) and non consanguineous parents (case 2), following an uneventful pregnancy. No family members had a similar appearance. Physical examination revealed numerous, generalized, hyperpigmented macules interspersed with spotty de-pigmented macules. Hair, nails, teeth, and mucosae were normal. Systemic examination did not reveal abnormalities. Histological exam revealed basal layer hypermelanosis with pigmentary incontinence in some areas. So based on those findings a clinical diagnosis of DUH was made and the patients were followed up in our department for periodic general evaluation of their skin. After a follow up of 12 months, the first child didn't develop other lesions, but palms and soles were also involved in the second case.

摘要

遗传性泛发性色素异常症是一种罕见的遗传性皮肤病,最初主要在日本被报道。然而,随后其他国家也有病例报告。我们描述了两例突尼斯遗传性泛发性色素异常症病例,分别为一名3岁女童和一名3个月大的女婴。她们因自出生以来躯干和四肢出现无症状的进行性斑驳色素沉着前来我院就诊,且随着年龄增长色素沉着愈发明显。第一例患者的手掌和脚底也受到影响。两名患者均无任何全身性或其他皮肤疾病。她们分别出生于健康的二级近亲父母(病例1)和非近亲父母(病例2),孕期均正常。家族中无类似外貌的成员。体格检查发现全身有大量散在的色素沉着斑,其间夹杂着点状色素脱失斑。毛发、指甲、牙齿和黏膜均正常。全身检查未发现异常。组织学检查显示部分区域基底层黑色素增多,伴有色素失禁。基于这些发现,做出了遗传性泛发性色素异常症的临床诊断,并在我院对患者进行随访,定期对其皮肤进行全面评估。随访12个月后,第一个孩子未出现其他病变,但第二例患者的手掌和脚底也出现了色素沉着。

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