局限性常染色体隐性遗传性少毛症

A case of localized autosomal recessive hypotrichosis

报告1例局限性常染色体隐性遗传性少毛症。患儿女,1岁。头发稀疏1年。皮肤科检查:头发弥漫性稀疏,散在分布断发,头发色淡、干枯、卷曲、触之易断。头皮可见弥漫性毛囊角化过度性肤色丘疹,部分丘疹周围有淡红斑。全外显子基因检测示患儿DSG4基因有1个纯合突变。皮肤镜检查:镜下可见较多念珠状发,散在分布断发,断面毛糙,散在分布黑点征及细软的毛干。诊断:局限性常染色体隐性遗传性少毛症。

A case of localized autosomal recessive hypotrichosis is reported.A 1-year-old girl presented with thinning hairs for 1 year.Physical examination showed diffuse and sparse hairs were pale,dry,curly and easy to break with some broken,follicular hyperkeratotic skin-colored papules diffused on the scalp,and some papules were surrounded by light erythema.Wholeexome sequencing revealed a homozygous mutation in the DSG4 gene.Dermatoscopy showed candida hairs,broken hairs with rough cross sections and scattered in black spots,as well as fine hair shafts.Diagnosis:Localized autosomal recessive hypotrichosis.