Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome.
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.
Van Hove
Johan L K
JL
Department of Pediatrics, University Hospital Gasthuisberg, Katholieke Universiteit Leuven, Leuven, Belgium. Johan.Vanhove@uchsc.edu
Jaeken
Jaak
J
Proesmans
Marijke
M
Boeck
Kris De
KD
Minner
Kristin
K
Matthijs
Gert
G
Verbeken
Eric
E
Demunter
Anouk
A
Boogaerts
Marc
M
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