A case of prolidase deficiency in a male patient.

Haller, Courtney N; George-Abraham, Jaya K; Peterson, Rosemary G; Diaz, Lucia Z

Haller, Courtney N; George-Abraham, Jaya K; Peterson, Rosemary G; Diaz, Lucia Z.

Afiliação

Haller CN; Division of Dermatology, Department of Internal Medicine, Dell Medical School, Austin, Texas, USA.
George-Abraham JK; Division of Genetics, Department of Pediatrics, Dell Medical School, Austin, Texas, USA.
Peterson RG; Division of Rheumatology, Department of Pediatrics, Dell Medical School, Austin, Texas, USA.
Diaz LZ; Division of Dermatology, Department of Internal Medicine, Dell Medical School, Austin, Texas, USA.

Pediatr Dermatol ; 39(1): 94-98, 2022 Jan.

Article em En | MEDLINE | ID: mdl-34888915

ABSTRACT

ABSTRACT

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.

Assuntos

Dipeptidases; Deficiência de Prolidase; Criança; Humanos; Masculino; Deficiência de Prolidase/diagnóstico

Palavras-chave

amino acid metabolism, inborn errors; dermatology; pediatrics; prolidase deficiency; skin diseases, genetic

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Dipeptidases / Deficiência de Prolidase Tipo de estudo: Diagnostic_studies / Screening_studies Limite: Child / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article

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