Department of Dermatology, Faculty of Medicine, University of Yamanashi, Chuo-shi, Yamanashi, Japan.
Int J Dermatol. 2013 May;52(5):572-4. doi: 10.1111/j.1365-4632.2012.05775.x.
Woolly hair is a hereditary disorder characterized by fine and tightly curled hair. Autosomal recessive woolly hair (ARWH) was recently determined to result from mutations in either the lipase H (LIPH) or the LPAR6 (P2RY5) gene.
An 8-year-old boy (proband) and his 11-year-old brother presented with tightly coiled and sparse scalp hair. The boys did not have cardiomyopathy, palmoplantar keratoderma, or facial dysmorphism. Their parents had normal hair growth and no woolly hair. The sequence analysis of their genomic DNA revealed that the proband and his brother had a homozygous mutation of c.736T > A in the LIPH gene. On the basis of these findings, these patients were diagnosed with ARWH.
To the best of our knowledge, only 20 cases of ARWH have been previously reported in Japan. However, several reports showed that one mutation was detected in the 4/200 normal and unrelated alleles in healthy Japanese control individuals, indicating the presence of ARWH in patients with extremely mild symptoms.
羊毛状发是一种遗传性疾病，其特征为毛发细软且卷曲。常染色体隐性遗传性羊毛状发（ARWH）最近被确定为由脂肪酶 H（LIPH）或 LPAR6（P2RY5）基因突变引起。
一名 8 岁男孩（先证者）及其 11 岁的弟弟表现为头皮毛发卷曲且稀疏。这两个男孩没有心肌病、手掌足底角化过度症或面部畸形。他们的父母毛发正常，没有羊毛状发。对他们的基因组 DNA 进行序列分析显示，先证者及其弟弟均存在 LIPH 基因 c.736T > A 的纯合突变。基于这些发现，这些患者被诊断为 ARWH。
据我们所知，以前在日本仅报道了 20 例 ARWH。然而，有几个报道显示，在 4/200 名健康日本对照个体的正常和无关等位基因中检测到一个突变，这表明在症状极其轻微的患者中存在 ARWH。
