title: Ocular pterygium--digital keloid dysplasia.
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.
authors.affiliation: Instituto Nacional de Salud del Nino, Lima, Peru.
authors.forename: Hugo
authors.initials: H
authors.lastname: Abarca
authors.forename: Anne E Christensen
authors.initials: AE
authors.lastname: Mellgren
authors.forename: Milana
authors.initials: M
authors.lastname: Trubnykova
authors.forename: Olav H
authors.initials: OH
authors.lastname: Haugen
authors.forename: Gunnar
authors.initials: G
authors.lastname: Høvding
authors.forename: Kåre Steinar
authors.initials: KS
authors.lastname: Tveit
authors.forename: Gunnar
authors.initials: G
authors.lastname: Houge
authors.forename: Cecilie
authors.initials: C
authors.lastname: Bredrup
authors.forename: Raoul C
authors.initials: RC
authors.lastname: Hennekam
mesh_terms: D002648:Child; D002675:Child, Preschool; D019066:Facies; D005385:Fingers / Q000473:pathology*; D006801:Humans; D007627:Keloid / Q000175:diagnosis / Q000473:pathology*; D008297:Male; D010641:Phenotype; D011625:Pterygium / Q000175:diagnosis / Q000473:pathology* / Q000601:surgery; D012880:Skin Pigmentation; D014034:Toes / Q000473:pathology*
keywords: autosomal dominant; camptodactyly; childhood ocular pterygium; keloid