Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>ALIPHmutation

Abstract

The difference in the frequency of underdeveloped hairs may be a major factor contributing to the clinical diversity of hair sparseness in LIPH c.736T>A homozygotes with ARWH/H. Hence, pharmacological modification to thicken existing fine hairs may provide a therapeutic strategy.

Mutational analysis of 29 patients with autosomal-recessive woolly hair and hypotrichosis: LIPH mutations are extremely predominant in autosomal-recessive woolly hair and hypotrichosis in Japan

“…Recently, Kinoshita‐Ise et al . reported that the difference in the frequency of underdeveloped hairs might be a major factor contributing to the clinical diversity of hair sparseness in LIPH c.736T>A homozygotes with ARWH . We previously reported that patients with ARWH homozygous for c.742C>A showed a severe phenotype, and, in contrast, patients with mild hypotrichosis were seen among the patients with ARWH homozygous for c.736T>A.…”

Autosomal recessive woolly hair and hypotrichosis in two Caucasian dizygotic twins. Description of a novel biallelic mutation in the LPAR6 gene

“…This suggests that other gene modifiers might play a role in phenotypic variability 1 . Histologically, there is no decrease in total hair count, but there is a remarkable miniaturization and an increased telogen/anagen hair ratio 5 . Spontaneous improvement has been described, and the effectiveness of topical minoxidil in the treatment of ARWH/H and other monogenic hair disorders has also been noted 5 .…”

“…Histologically, there is no decrease in total hair count, but there is a remarkable miniaturization and an increased telogen/anagen hair ratio 5 . Spontaneous improvement has been described, and the effectiveness of topical minoxidil in the treatment of ARWH/H and other monogenic hair disorders has also been noted 5 . However, topical minoxidil was not an effective treatment in these patients.…”

Quantitative image analysis for hereditary hair disorders

“…In an effort to provide such an assessment tool for geneticists and dermatologists, Kinoshita‐Ise et al . have examined eight patients with autosomal recessive woolly hair/hypotrichosis (ARWH/H) . ARWH/H is a nonsyndromic hair loss disorder, characterized by tightly curled hair, which can often be associated with hypotrichosis.…”

“…While these reports show encouraging outcomes, a degree of caution should be exercised when interpreting these results, as sometimes hereditary hair conditions can improve spontaneously or following hormonal changes, such as pregnancy . Therefore, the use of minoxidil should be further examined in proper clinical studies, using suitable evaluation methods, such as the ones suggested in the study by Kinoshita‐Ise et al …”