Two siblings with the skin fragility woolly hair syndrome

Abstract

The Skin Fragility and Woolly Hair Syndrome is a rare inherited disorder that presents with woolly hair, alopecia, and palmoplantar keratoderma. The lack of cardiovascular findings is an important feature in differentiating the disease from other genodermatoses that present with woolly hair and palmoplantar keratoderma. Here, we present a homozygous positive index case of the "Skin Fragility and Woolly Hair Syndrome" and her sister, whose parents were heterozygous positive for the same gene.A 4-year-old male patient applied to the outpatient clinic with the chief complaint of hair loss since birth. He had no other known diseases and was not using any regular drugs. His 2-year-old sister