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Ocular pterygium—Digital keloid dysplasia
Author(s) -
Abarca Hugo,
Mellgren Anne E Christensen,
Trubnykova Milana,
Haugen Olav H.,
Høvding Gunnar,
Tveit Kåre Steinar,
Houge Gunnar,
Bredrup Cecilie,
Hennekam Raoul C
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36713
Subject(s) - pterygium , keloid , dermatology , medicine , conjunctiva , camptodactyly , anatomy , ophthalmology , pathology
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. © 2014 Wiley Periodicals, Inc.