| Autor: |
Van Hove, Johan L.K., Jaeken, Jaak, Proesmans, Marijke, Boeck, Kris De, Minner, Kristin, Matthijs, Gert, Verbeken, Eric, Demunter, Anouk, Boogaerts, Marc |
| Zdroj: |
American Journal of Medical Genetics. Part A; January 2005, Vol. 132 Issue: 2 p152-158, 7p |
| Abstrakt: |
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. © 2004 Wiley‐Liss, Inc. |
| Databáze: |
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