Acral Peeling Skin Syndrome: More than a Rare Genodermatosis Affecting Not Only the Skin.

Background and

Objectives

Acral peeling skin syndrome (APSS) is a rare autosomal recessive genodermatosis primarily affecting the skin. Although subtle hair abnormalities have been reported, data on hair morphology and age-related differences in APSS remain limited. Materials and

Methods

Hair samples were collected from two pediatric patients with APSS aged 2 and 6 years and age-matched healthy controls. Five hair shafts from each participant were examined at two standardized distances from the root (5 mm and 15 mm). A total of ten atomic force microscopy (AFM) images were obtained for each hair shaft. Cuticle scale length, width, and deviation were analyzed using line profile measurements. Most analyses were performed on scan areas of 40 × 20 µm.

Results

AFM revealed distinct nanoscale differences in hair cuticle morphology between children with APSS and healthy controls, including differences in cuticle scale step height, apparent cuticle scale length, and cuticle scale width.

Conclusions

This exploratory study provides the first AFM characterization of hair shaft morphology in pediatric patients with APSS and provides a foundation for future research.