Clericuzio type poikiloderma with neutropenia is distinct from Rothmund-Thomson syndrome
| Autor: | Kris De Boeck, Gert Matthijs, Marc Boogaerts, Kristin Minner, Marijke Proesmans, Eric Verbeken, Jacques Jaeken, Johan L.K. Van Hove, Anouk Demunter |
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| Rok vydání: | 2005 |
| Předmět: |
Male
medicine.medical_specialty Neutropenia Poikiloderma Consanguinity Diagnosis Differential Fatal Outcome Genetics medicine Humans Abnormalities Multiple Child Keratoderma Rothmund–Thomson syndrome Genetics (clinical) Pigmentation disorder Leukopenia Respiratory tract infections business.industry Siblings Rothmund-Thomson Syndrome Syndrome medicine.disease Dermatology Pedigree Child Preschool Female medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics Part A. :152-158 |
| ISSN: | 1552-4833 1552-4825 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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