Prolidase deficiency in two dermatological patients in western Sicily.
G Ital Dermatol Venereol
; 155(2): 223-228, 2020 Apr.
Article
em En
| MEDLINE
| ID: mdl-32394675
ABSTRACT
Prolidase deficiency is a rare disorder inherited through an autosomal recessive gene. The hallmark of the disorder are iminodipeptiduria, chronic skin ulcers, recurring infections, mental retardation and characteristic facial appearance, although prolidase deficiency can occur with no clinical manifestation. The primary biological function of the enzyme involves the metabolism of collagen degradation products and the recycling of proline for collagen resynthesis. We describe two patients with prolidase deficiency and review the different clinical manifestations suggesting the pathogenetic mechanism through few hypotheses.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiência de Prolidase
Limite:
Adult
/
Female
/
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
G Ital Dermatol Venereol
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Itália