title: [Trichothiodystrophy and congenital heart disease in two sisters].
abstract: BACKGROUND
  Trichothiodystrophy refers to a heterogeneous group of autosomal recessive genodermatosis of unknown etiology. Patients with trichothiodystrophy have alopecia with typical hair dysplasia ("tiger-tail"), and abnormally low sulfur content. Numerous unrelated neuroectodermal defects have been observed in trichothiodystrophy. We report here trichothiodystrophy and congenital heart disease in two sisters.
  
  
  METHODS
  Two sisters were born as collodion babies and presented ichthyosis and alopecia. The diagnosis of trichothiodystrophy was confirmed by polarizing microscopy of hair and low sulfur content. Both had congenital heart disease.
  
  
  CONCLUSIONS
  Cardiovascular defects have rarely been reported in trichothiodystrophy. The association trichothiodystrophy - congenital heart disease has never been described. The low incidence of both conditions suggests that these abnormalities are linked etiologically rather than by chance. Abnormal Notch signaling, or contiguous gene deletion syndrome could lead to combined phenotype as observed in our family.
authors.affiliation: Service de dermatologie, Centre hospitalier de Toulouse Rangueil, 1, avenue Jean Poulhès, 31403 Toulouse Cedex 4.
authors.forename: J
authors.initials: J
authors.lastname: Mazereeuw-Hautier
authors.forename: J H
authors.initials: JH
authors.lastname: Pech
authors.forename: F
authors.initials: F
authors.lastname: Heitz
authors.forename: J L
authors.initials: JL
authors.lastname: Bonafe
mesh_terms: D000505:Alopecia / Q000150:complications / Q000235:genetics*; D005260:Female; D006201:Hair Diseases / Q000150:complications / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome