Ugreelig hår

The document described a case of a young boy diagnosed with uncombable hair syndrome, a rare hair shaft anomaly characterized by triangular hair shafts with longitudinal grooves. Genetic analysis revealed two compound heterozygous pathogenic variants in the PADI3 gene. The syndrome, first described in 1973, is often seen in early childhood and is marked by blond, dry, and frizzy hair that is difficult to comb. It follows an autosomal recessive inheritance pattern and can occur sporadically due to mutations in the PADI3, TCHH, and TGM3 genes. Although there is no specific treatment, biotin supplements have shown variable results. The prognosis is generally good, with most cases improving spontaneously over time. Uncombable hair syndrome can also be part of Bork's syndrome, an autosomal dominant ectodermal dysplasia syndrome.