Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis.
J Clin Immunol
; 40(6): 934-939, 2020 08.
Article
en En
| MEDLINE
| ID: mdl-32620997
ABSTRACT
Poikiloderma with neutropenia (PN), Clericuzio-type is a rare autosomal recessively transmitted genodermatosis caused by biallelic mutations in the USB1 gene and is characterized by early-onset poikiloderma and chronic neutropenia. Nail dystrophy, palmoplantar hyperkeratosis, hypogonadotropic hypogonadism, and recurrent infections can be associated with the disease. Herein, we present a 27-year-old Turkish male patient newly diagnosed as PN, Clericuzio-type after confirmation of a c.531delA (p.His179MetfsX86) homozygous deleterious mutation in exon 5 of the USB1 gene. The presented case highlights the importance of genetic testing for avoiding misdiagnosis based solely on clinical findings, as well as the benefit of a multi-disciplinary diagnostic approach, as he was initially misdiagnosed as Rothmund-Thompson syndrome and subsequently diagnosed as PN, Clericuzio-type at age 27 years.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Osteomielitis
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Anomalías Cutáneas
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Neutropenia
Límite:
Adult
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Humans
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Male
Idioma:
En
Revista:
J Clin Immunol
Año:
2020
Tipo del documento:
Article
País de afiliación:
Turquía