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

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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.

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Authors and Affiliations

  1. School of Medicine, Department of Dermatology and Venereology, Hacettepe University, Ankara, Turkey

    Neslihan Akdogan, Ecem Bostan & Sibel Ersoy-Evans

  2. School of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara, Turkey

    Erdem Kindis & Eda Utine

  3. School of Medicine, Department of Medical Genetics, Hacettepe University, Ankara, Turkey

    Mehmet Alikasifoglu

Authors
  1. Neslihan Akdogan
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  2. Erdem Kindis
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  3. Ecem Bostan
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  4. Eda Utine
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  5. Mehmet Alikasifoglu
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  6. Sibel Ersoy-Evans
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Correspondence to Sibel Ersoy-Evans.

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Akdogan, N., Kindis, E., Bostan, E. et al. Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis. J Clin Immunol 40, 934–939 (2020). https://doi.org/10.1007/s10875-020-00815-5

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  • DOI: https://doi.org/10.1007/s10875-020-00815-5

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