Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis
- PDF / 1,827,431 Bytes
- 6 Pages / 595.276 x 790.866 pts Page_size
- 19 Downloads / 172 Views
LETTER TO EDITOR
Poikiloderma with Neutropenia, Clericuzio-Type Accompanied by Loss of Digits Due to Severe Osteomyelitis Neslihan Akdogan 1 Sibel Ersoy-Evans 1
&
Erdem Kindis 2
&
Ecem Bostan 1
&
Eda Utine 2
&
Mehmet Alikasifoglu 3
&
Received: 2 April 2020 / Accepted: 25 June 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
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 multidisciplinary diagnostic approach, as he was initially misdiagnosed as Rothmund-Thompson syndrome and subsequently diagnosed as PN, Clericuzio-type at age 27 years.
To the Editor, Poikiloderma with neutropenia (PN), Clericuzio-type is an uncommon genodermatosis that presents with cutaneous and hematological manifestations that was first described in Navajo Native Americans by Clericuzio [1]. Early-onset poikiloderma and chronic neutropenia associated with recurrent infections are cardinal features of PN, Clericuziotype [2–4]. Unequivocal confirmation of the diagnosis of PN, Clericuzio-type depends on detection of biallelic USB1 gene mutations via molecular genetic testing [5, 6]. Herein, we describe a 27-year-old Turkish male with earlyonset prominent poikiloderma, severe plantar hyperkeratosis, pachyonychia, neutropenia, facial dysmorphism, recurrent sinopulmonary infections, and amputation of digits due to osteomyelitis. Sanger DNA sequencing showed a c.531delA (p.His179MetfsX86) homozygous deleterious mutation in exon 5 of the USB1 gene. Based on clinical * Sibel Ersoy-Evans [email protected] 1
School of Medicine, Department of Dermatology and Venereology, Hacettepe University, Ankara Turkey
2
School of Medicine, Department of Pediatric Genetics, Hacettepe University, Ankara Turkey
3
School of Medicine, Department of Medical Genetics, Hacettepe University, Ankara Turkey
and radiological findings, as well as mutation analysis, the patient was diagnosed with PN, Clericuzio-type at age 27 years. A 27-year-old Turkish male born full-term via vaginal delivery presented for the first time to our dermatology outpatient clinic with a rash, photosensitivity, and thickened finger and toe nails. His rash and photosensitivity were present since age 1 year. At age 3 years, a punch biopsy of the rash performed at another medical institution showed histopathological findings compatible with atrophic/fibrosing dermatitis (poikiloder
Data Loading...
