Cutis laxa with pulmonary emphysema, conjunctivochalasis, nasolacrimal duct obstruction, abnormal hair, and a novel FBLN5 mutation.
Am J Med Genet A
; 164A(9): 2370-7, 2014 Sep.
Article
em En
| MEDLINE
| ID: mdl-24962763
ABSTRACT
We report on a 4-year-old girl with autosomal recessive cutis laxa, type IA, or pulmonary emphysema type (ARCL1A; OMIM #219100), with loose and wrinkled skin, mitral and tricuspid valve prolapse, conjunctivochalasis, obstructed nasolacrimal ducts, hypoplastic maxilla, and early childhood-onset pulmonary emphysema. Mutation analysis of FBLN5 showed a homozygous c.432C>G missense mutation, and heterozygosity in the parents. This is predicted to cause amino acid substitution p.Cys144Trp. Conjunctivochalasis or redundant folds of conjunctiva and obstructed nasolacrimal ducts have not been reported to be associated with FBLN5 mutations. Histopathological study of the conjunctival biopsy showed that most blood vessels had normal elastic fibers. The gingiva appeared normal, but histologically elastic fibers were defective. Scanning electron micrography of scalp hair demonstrated hypoplastic hair follicles. The cuticles appear intact underneath the filamentous meshwork.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Enfisema Pulmonar
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Proteínas da Matriz Extracelular
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Túnica Conjuntiva
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Cútis Laxa
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Cabelo
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Mutação
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Ducto Nasolacrimal
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Child, preschool
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Female
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Humans
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Infant
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Newborn
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article