A case of prolidase deficiency in a male patient.

Autor: Haller, Courtney N., George‐Abraham, Jaya K., Peterson, Rosemary G., Diaz, Lucia Z.
Předmět:
Zdroj: Pediatric Dermatology; Jan2022, Vol. 39 Issue 1, p94-98, 5p
Abstrakt: Prolidase deficiency is an extremely rare, autosomal recessive disorder resulting in defective collagen formation. We report a case of prolidase deficiency in a male child, highlighting the dermatologic features. Early diagnosis is important as these patients encounter significant multisystem comorbidities requiring multispecialty care. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index