Identification of Factors Contributing to Phenotypic Divergence via Quantitative Image Analyses of Autosomal Recessive Woolly Hair/Hypotrichosis with Homozygous c.736T>A LIPH Mutation

In a study from 2016, researchers investigated the factors contributing to the varying severity of hair loss in patients with autosomal recessive woolly hair/hypotrichosis (ARWH/H) who have the homozygous LIPH c.736T>A mutation. Eight Japanese patients were analyzed using digital image analyses to quantify clinical severity and were categorized into three groups: mild, severe, and very severe. The study found that hair thickness differed between mild and severe cases, but total hair numbers did not, except in a very severe atypical case. Histological examination supported these findings, showing hair miniaturization and a high telogen/anagen ratio without a decrease in total hair count in a mild case. Additionally, two children showed spontaneous improvement, and two adults had positive responses to topical minoxidil, which increased both hair numbers and thickness. The study concluded that the variation in the development of hair fibers might be a key factor in the clinical diversity of hair loss in these patients, suggesting that treatments aimed at thickening fine hairs could be beneficial.