Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings |
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Authors: | Daniela Concolino Simona Sestito Francesca Falvo Giusy Romano Miriam Ceravolo Elisa Anastasio Licia Pensabene Elisa A Colombo Lidia Larizza |
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Institution: | 1. Department of Medical and Surgical Sciences, Pediatrics Unit, University\"Magna Graecia\", Catanzaro, Italy;2. Dipartimento di Scienze della Salute, Università degli Studi di Milano, via Antonio di Rudinì 8, 20142, Milano, Italy;3. Medical Cytogenetics and Molecular Genetics Laboratory, Centro di Ricerche e Tecnologie Biomediche IRCCS, Istituto Auxologico Italiano, Milan, Italy |
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Abstract: | Clericuzio-type poikiloderma with neutropenia is a well-defined nosological entity, but despite a remarkable number of clinical reports, no long term follow-up data has been presented to date regarding patients with this rare condition.Here we describe the results of clinical follow-up of three siblings, one male (Patient 1) and two females (Patients 2 and 3), subsequent to their first clinical and then molecular diagnosis of Clericuzio-type poikiloderma with neutropenia syndrome due to mutation of USB1gene. Patient 1 always expressed the most severe phenotype, while patients 2 and 3 showed an intermediate and mild phenotype, respectively, as observed since their first clinical evaluation. None of the patients developed skin cancer and/or myelodysplastic disorders considering the peripheral haematological findings. Lens opacity, never reported before, was found in two of the three patients.The long term follow-up observations confirm the stability over time of the pronounced intra-familial heterogeneity of clinical manifestations observed prior to and upon molecular diagnosis. We conclude that prolonged follow-up is an adjunct tool to monitor intra-familial variability of PN clinical spectrum which may favour surveillance of more serious complications of the disease among siblings, when a patient-specific clinical expressivity is present. |
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Keywords: | Poikiloderma Neutropenia Intra-familial variability Siblings |
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