A case of prolidase deficiency in a male patient

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 comorb...

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Veröffentlicht in:	Pediatric dermatology 2022-01, Vol.39 (1), p.94-98
Hauptverfasser:	Haller, Courtney N., George‐Abraham, Jaya K., Peterson, Rosemary G., Diaz, Lucia Z.
Format:	Artikel
Sprache:	eng
Schlagworte:	amino acid metabolism, inborn errors Case reports Child Collagen Dermatology Dipeptidases Genetic disorders Hereditary diseases Humans Male Medical diagnosis Pediatrics Prolidase prolidase deficiency Prolidase Deficiency - diagnosis Skin diseases skin diseases, genetic Systemic diseases
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Beschreibung
Zusammenfassung:	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.
ISSN:	0736-8046 1525-1470
DOI:	10.1111/pde.14890