Uncombable hair syndrome and beyond

Acta Dermatovenerol Alp Pannonica Adriat. 2022 Jun;31(2):49-64.

Abstract

Uncombable hair syndrome presents with frizzy hair in early childhood. Isolated hair manifestations are usually observed; however, systemic involvement of the nervous system, eyes, and ears have also been reported. The syndrome has been classified into three subtypes, correlating with the three mutated genes: peptidyl arginine deiminase, type III; transglutaminase 3; and trichohyalin. This article presents the clinical picture of uncombable hair syndrome with special attention to its systemic manifestations. It also addresses its molecular aspects. Google Scholar was used to retrieve relevant publications. Clinical and molecular data were tabulated and frequencies were calculated. At least 127 cases were identified. Congenital hair defects were reported in two-thirds of cases, in which hair texture (83%), color (52%), density (15%), and growth (11%) were impaired. Uncombable hair rarely involves the eyebrows and eyelashes, and it may co-occur with loose anagen hair syndrome, androgenic alopecia, alopecia areata, and scarring alopecia. Pathologies of the skin, nails, and teeth were reported among 63%, 28%, and 25%, respectively. Systemic abnormalities were not uncommon. Dysmorphic features (n = 8), and neuropsychiatric/developmental (n = 8), ophthalmic (n = 7), otic (n = 4), and cardiopulmonary (n = 3) manifestations were also reported. Molecular genetic analysis of all patients is recommended to identify genotype-phenotype correlation. A general pediatric review might be needed to rule out any potential systemic association.

MeSH terms

  • Alopecia Areata*
  • Child
  • Child, Preschool
  • Hair / abnormalities
  • Hair / pathology
  • Hair Diseases* / diagnosis
  • Hair Diseases* / genetics
  • Hair Diseases* / pathology
  • Humans
  • Syndrome

Supplementary concepts

  • Uncombable hair syndrome