Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco.

Abstract

Three siblings from Morocco consanguineous family presented with cutaneous poikiloderma following postnatal ichthyosiform lesions, associated with papillomatous lesions, palmoplantar keratoderma, pachyonychia of toenails, fragile carious teeth, and lachrymal duct obstruction. Photosensitivity and blistering improved with age. Atrophic scars were prominent on the limbs. Neutropenia developed in the first year secondary to dysmyelopoiesis affecting the granulocyte lineage, associated with a polyclonal hypergammaglobulinemia. Several broncho-pulmonary infectious episodes complicated the evolution, and cystic fibrosis was first considered on the basis of repeated abnormal sweat chloride tests but not confirmed by molecular analyses. This autosomal recessive disorder matches that described originally as poikiloderma with neutropenia-Clericuzio type in Navajo Indians (OMIM 604173). It is discussed within the group of the major hereditary poikiloderma disorders, that is, Rothmund-Thomson syndrome, dyskeratosis congenita, and Kindler syndrome.

• Authors: Rahima Mostefai, Fanny Morice-Picard, Franck Boralevi, Michel Sautarel, Didier Lacombe, Marie José Stasia, John McGrath, Alain Taïeb
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 146A Issue 21 Pg. 2762-9 (Nov 01 2008) ISSN: 1552-4833 [Electronic] United States
• PMID: 18925663 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2008 Wiley-Liss, Inc.

Topics

• Child
• Child, Preschool
• Consanguinity
• DNA Mutational Analysis
• Diagnosis, Differential
• Female
• Genes, Recessive
• Humans
• Infant
• Lung Diseases (genetics)
• Male
• Morocco
• Neutropenia (complications, genetics, physiopathology)
• Neutrophils (physiology)
• Pedigree
• Phagocytosis
• Rothmund-Thomson Syndrome (complications, genetics, pathology)
• Skin (pathology)
• Syndrome