Schopf-Schulz-Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis
Schopf-Schulz-Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis
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DOI：
10.1111/ijd.14616
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发表时间：
2019-08-29
影响因子：
3.6
通讯作者：
Sinclair, Rodney
中科院分区：
文献类型：
--
作者：
Ismail, Fathima F.;McGrath, John;Sinclair, Rodney
外胚层发育不良是影响皮肤和皮肤附属物的遗传性疾病。它们是根据附属物表现出的异常来分类的。这个病人的皮肤、指甲和牙齿都受到了影响。她的头发很正常，也会出汗。考虑的主要鉴别诊断是牙-甲-真皮发育不良（OODD）和ssp。Schopf-Schulz-Passarge综合征是罕见的，不到50例以前的文献报道。1第一个描述是在1971年对一对近亲婚姻所生的姐妹的描述，她们表现为上下眼睑囊肿、下颌缺损、毛少、掌足底角化皮病和甲营养不良。2
DiscussionEctodermal dysplasias are genetic disorders that affect the skin and skin appendages. They are classified according to which appendages demonstrate abnormalities. This patient had involvement of her skin, nails, and teeth. Her hair was normal, and she was able to sweat. The main differential diagnoses considered were odonto-onycho-dermal dysplasia (OODD) and SSPS.Schopf-Schulz-Passarge syndrome is rare, with less than 50 cases previously reported in the literature. 1 The first description was in 1971 of two sisters born of a consanguineous marriage who presented with cysts on the upper and lower eyelids, hypodontia, hypotrichosis, palmoplantar keratoderma, and onychodystrophy. 2