Monilethrix with variable expressivity.
作者信息
Bindurani S, Rajiv S
机构信息
Department of Dermatology, Pariyaram Medical College, Kannur, Kerala, India.
出版信息
Int J Trichology. 2013 Jan;5(1):53-5. doi: 10.4103/0974-7753.114703.
Abstract
Monilethrix is a rare autosomal dominant hair shaft disorder with variable expressivity. It usually presents with short broken scalp hairs and follicular hyperkeratosis. Light microscopy of hair reveals a beaded appearance. Here, we report the case of a 32-year-old male who presented with sparse hair and follicular keratotic papules in the absence of any family history.
摘要
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本文引用的文献
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An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis.毛发念珠状发的常染色体隐性形式由DSG4基因突变引起：与局限性常染色体隐性少毛症的临床重叠。
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5
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