Uncombable hair (pili trianguli et canaliculi): Evidence for dominant inheritance with complete penetrance based on scanning electron microscopy

A. A. Hebert, J. Charrow, N. B. Esterly, D. F. Fretzin

Research output: Contribution to journalReview articlepeer-review

21 Scopus citations

Abstract

Uncombable or spun-glass hair (pili trianguli et canaliculi) is an uncommon condition in which the hair is 'unmanageable' and has a distinct appearance on scanning electron microscopy. The hair is usually grossly abnormal in infancy and childhood, but may become normal later in life. Although dominant inheritance has been observed, most cases have been sporadic. Both recessive and dominant transmission with incomplete penetrance have been suggested as modes of inheritance. We report the occurrence of this condition in a young girl, her brother, and her father. Although the proposita and her brother had characteristically uncombable hair, their father appeared normal and denied any history of hair abnormality. However, the characteristic hair morphology was observed on scanning electron microscopy in all 3 relatives, documenting dominant transmission and complete penetrance of the gene in this family.

Original languageEnglish (US)
Pages (from-to)185-193
Number of pages9
JournalAmerican Journal of Medical Genetics
Volume28
Issue number1
DOIs
StatePublished - Jan 1 1987

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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