Prolidase Deficiency Causing Recalcitrant Leg Ulcerations in Siblings.
Adv Skin Wound Care
; 34(11): 1-4, 2021 Nov 01.
Article
em En
| MEDLINE
| ID: mdl-34669667
ABSTRACT
ABSTRACT Prolidase deficiency (PD) is a rare autosomal recessive genodermatosis with variable clinical manifestations. It results from a mutation in the peptidase-D gene that leads to abnormal activity of the prolidase enzyme, an important player in collagen catabolism. The authors report the case of two siblings presenting with dysmorphic features, disturbed blood panel, and recalcitrant leg ulcerations of several years' duration. Sequencing of the 15 exons and of the intron/exon junction regions of the peptidase-D gene revealed the presence of a homozygous pathogenic variant c.549-1G > A. An ointment with 5% proline and 5% glycine was compounded, and the patients were instructed to apply it once daily. A follow-up visit after 8 months revealed partial improvement of the ulcerations starting from the third month of treatment. These authors hope this case report sheds light on this disease and recommend it be incorporated into the differential diagnoses of chronic leg ulcerations, particularly those starting at a young age.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Irmãos
/
Deficiência de Prolidase
/
Úlcera da Perna
Limite:
Adult
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Adv Skin Wound Care
Assunto da revista:
ENFERMAGEM
Ano de publicação:
2021
Tipo de documento:
Article