Ocular pterygium--digital keloid dysplasia.
Am J Med Genet A
; 164A(11): 2901-7, 2014 Nov.
Article
en En
| MEDLINE
| ID: mdl-25124224
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.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Pterigion
/
Dedos del Pie
/
Dedos
/
Queloide
Tipo de estudio:
Diagnostic_studies
Límite:
Child
/
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2014
Tipo del documento:
Article
País de afiliación:
Perú