Oral-facial-digital syndrome type I. Importance of the skin manifestations

S. Cambiaghi, G. Pistritto, R. Cavalli, R. M. Dellepiane, M. Mastrangelo

Research output: Contribution to journalArticlepeer-review


The oral-facial-digital syndrome type I is a rare, inherited, polymalformation disorder affecting the female sex. As suggested by its name, the main alterations of the syndrome affect the oral mucosa, the face, the fingers of the hands and the toes. The characteristic skin manifestations, when present, are a clue to the diagnosis. They consist of congenital hypotrichosis and multiple milia. The latter affect the face and head and regress with pinhead atrophic residua. A paradigmatic family case of oral-facial-digital syndrome type I, whose skin manifestations led to the right diagnosis is here reported.

Original languageEnglish
Pages (from-to)145-148
Number of pages4
JournalEuropean Journal of Pediatric Dermatology
Issue number3
Publication statusPublished - 1995


  • brachydactylia
  • congenital hypotrichosis
  • milium
  • oral alterations

ASJC Scopus subject areas

  • Dermatology
  • Pediatrics, Perinatology, and Child Health


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