Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis


AKDOĞAN N. , KINDIŞ E. , BOSTAN E. , Utine E. , ALİKAŞİFOĞLU M. , ERSOY EVANS S.

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.40, ss.934-939, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 40 Konu: 6
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1007/s10875-020-00815-5
  • Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
  • Sayfa Sayıları: ss.934-939

Özet

Poikiloderma with neutropenia (PN), Clericuzio-type is a rare autosomal recessively transmitted genodermatosis caused by biallelic mutations in theUSB1gene 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 theUSB1gene. 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.