Poikiloderma with Neutropenia in Morocco: a Report of Four Cases

J Clin Immunol. 2017 May;37(4):357-362. doi: 10.1007/s10875-017-0385-7. Epub 2017 Mar 28.

Abstract

Purpose: Poikiloderma with Neutropenia (PN) is inherited genodermatosis which results from a biallelic mutation in the USB1 gene (U Six Biogenesis 1). PN, first described in Navajo Native Americans, is characterized by early onset poikiloderma, pachyonychia, palmo-plantar hyperkeratosis, and permanent neutropenia. This condition results in frequent respiratory tract infections during infancy and childhood. From 2011 to 2013, four cases of PN were diagnosed in Morocco. In this paper, we report the first four cases of PN diagnosed in Morocco, out of three unrelated consanguinous families.

Methods: We investigated the genetic, immunological, and clinical features of four Moroccan patients with PN from three unrelated consanguinous families.

Results: Mean age at onset was 3 months and mean age at diagnosis was 7.5 years. The diagnosis of these PN patients was made based on clinical features and confirmed by molecular analysis for three cases. We identified two undescribed homozygous mutations in the USB1 gene: c.609 + 1G>A in two siblings and c.518 T>G(p.(Leu173Arg)) in the other case.

Conclusion: This report confirms the clinical and genetic identity of Poikiloderma with Neutropenia syndrome.

Keywords: Moroccan; Mutation; Poikiloderma with Neutropenia; USB1 gene.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Consanguinity
  • DNA Mutational Analysis
  • Female
  • Homozygote
  • Humans
  • Infant
  • Infections / diagnosis*
  • Infections / genetics
  • Male
  • Morocco
  • Mutation / genetics*
  • Neutropenia / diagnosis*
  • Neutropenia / genetics
  • Pathology, Molecular
  • Pedigree
  • Phosphoric Diester Hydrolases / genetics*
  • Siblings
  • Skin Abnormalities / diagnosis*
  • Skin Abnormalities / genetics

Substances

  • Phosphoric Diester Hydrolases
  • USB1 protein, human

Supplementary concepts

  • Poikiloderma with Neutropenia