title: Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.
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.
authors.affiliation: Department of Pediatrics, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium. Johan.Vanhove@uchsc.edu
authors.forename: Johan L K
authors.initials: JL
authors.lastname: Van Hove
authors.forename: Jaak
authors.initials: J
authors.lastname: Jaeken
authors.forename: Marijke
authors.initials: M
authors.lastname: Proesmans
authors.forename: Kris De
authors.initials: KD
authors.lastname: Boeck
authors.forename: Kristin
authors.initials: K
authors.lastname: Minner
authors.forename: Gert
authors.initials: G
authors.lastname: Matthijs
authors.forename: Eric
authors.initials: E
authors.lastname: Verbeken
authors.forename: Anouk
authors.initials: A
authors.lastname: Demunter
authors.forename: Marc
authors.initials: M
authors.lastname: Boogaerts
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008297:Male; D009503:Neutropenia / Q000473:pathology*; D010375:Pedigree; D011038:Rothmund-Thomson Syndrome / Q000473:pathology*; D035781:Siblings; D013577:Syndrome