title: Poikiloderma with neutropenia: genotype-ethnic origin correlation, expanding phenotype and literature review.
abstract: Poikiloderma with neutropenia (PN), is a rare genodermatosis associated with patognomic features of poikiloderma and permanent neutropenia. Three common recurrent mutations of related gene, USB1, were considered to be associated with three different ethnic origins. The most common recurrent mutation, c.531delA, has been detected in seven Caucasian patients in the literature. In this paper, we present review of all patients from the literature and report two additional patients of Turkish ancestry with the diagnosis of PN. The diagnosis of these two PN patients were made clinically and confirmed by molecular analysis which detected the most common recurrent mutation, c.531delA. Genotype-ethnic origin correlation hypothesis, therefore, has been strengthened with this result. Short stature in PN, is a common finding, which until now has never been treated with growth hormone (GH). One of our patients is the first patient with attempted treatment of short stature via GH administration. Finally, both of our patients had high-pitched voice and vocal cord nodules which might be considered as additional clinical findings not associated with PN before.
authors.affiliation: Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey.
authors.forename: Asuman
authors.initials: A
authors.lastname: Koparir
authors.forename: Alper
authors.initials: A
authors.lastname: Gezdirici
authors.forename: Erkan
authors.initials: E
authors.lastname: Koparir
authors.forename: Hakan
authors.initials: H
authors.lastname: Ulucan
authors.forename: Mehmet
authors.initials: M
authors.lastname: Yilmaz
authors.forename: Aslı
authors.initials: A
authors.lastname: Erdemir
authors.forename: Adnan
authors.initials: A
authors.lastname: Yuksel
authors.forename: Mustafa
authors.initials: M
authors.lastname: Ozen
mesh_terms: D000328:Adult; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009503:Neutropenia / Q000235:genetics*; D010641:Phenotype; D012868:Skin Abnormalities / Q000235:genetics*
keywords: ethnic origin; growth hormone (GH) therapy; high-pitched voice; poikiloderma with neutropenia (PN); vocal cord nodules