Author:

Keywords:

Abnormalities, Multiple, Child, Child, Preschool, Consanguinity, Diagnosis, Differential, Fatal Outcome, Female, Humans, Male, Neutropenia, Pedigree, Rothmund-Thomson Syndrome, Siblings, Syndrome, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, poikiloderma, neutropenia, neutrophil dysfunction, bronchocentric non-necrotising granulomatosis, RECQL4, HUMAN LEUKOCYTES, HUMAN POLYMORPHONUCLEAR, PHAGOCYTOSIS, MUTATIONS, MYELODYSPLASIA, SIBLINGS, DISEASES, NAVAJO, ASSAY, GENE, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

Two siblings from a consanguineous family presented with a poikiloderma of limbs and face, plantar keratoderma, and toenail pachyonychia. Neutropenia and neutrophil dysfunction with impairment of the respiratory burst and bacterial killing resulted in frequent respiratory tract infections. A bronchocentric granulomatous pneumonia was a fatal complication. The clinical presentation is consistent with Clericuzio type poikiloderma with neutropenia. Literature review identified several additional probable patients. Genetic linkage analysis excluded the locus of the RECQL4 gene, mutations in which have been described in some patients with the Rothmund-Thomson poikiloderma syndrome. This report confirms the clinical and genetic identity of the Clericuzio type of poikiloderma with neutropenia syndrome.