Ocular pterygium-Digital keloid dysplasia

Hugo Abarca, Anne E.Christensen Mellgren, Milana Trubnykova, Olav H. Haugen, Gunnar Høvding, Kåre Steinar Tveit, Gunnar Houge, Cecilie Bredrup, Raoul C. Hennekam

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

Abstract

We describe an adolescent Peruvian male with marked, aggressive ingrowth of conjunctiva (pterygium-like) over the cornea associated with keloid formation on his distal limbs. He has in addition camptodactyly of all fingers and to some extent of his toes, and unusual skin pigmentations. He resembles an earlier described family from Norway in which a mother and two children showed a similar combination of signs. We present the follow-up of the Norwegian family. The entity resembles the Penttinen syndrome but can be differentiated due to the early aging in the latter, which is lacking in the presently reported entity. We suggest naming this entity ocular pterygium-digital keloid dysplasia. The condition follows likely an autosomal dominant pattern of inheritance.

Original languageEnglish
Pages (from-to)2901-2907
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number11
DOIs
StatePublished - 1 Nov 2014

Keywords

  • Autosomal dominant
  • Camptodactyly
  • Childhood ocular pterygium
  • Keloid

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