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Poikiloderma With Neutropenia: A Case Report and Review of the Literature

Farruggia, Piero MD; Indaco, Stefania PhD; Dufour, Carlo MD; Lanza, Tiziana PhD; Mosa, Clara MD; Macaluso, Alessandra MD; Milioto, Mirella MD; D’Angelo, Paolo MD; Lanciotti, Marina PhD

Journal of Pediatric Hematology/Oncology: May 2014 - Volume 36 - Issue 4 - p 297–300
doi: 10.1097/MPH.0b013e31829f35e7
Original Articles

Poikiloderma with neutropenia (PN, OMIM 604173) is a rare autosomal-recessive genodermatosis. Mutations in the C16orf57 gene have been recently identified as the cause. Here we describe a new case of PN in a white patient, review the literature, and point out the attention on importance of differential diagnosis.

*Department of Oncology, Pediatric Hematology and Oncology Unit, A.R.N.A.S. Ospedali Civico

Dermatology Unit, A.R.N.A.S. Ospedali Civico, Di Cristina e Benfratelli, Palermo

Hematology Unit, G. Gaslini Children’s Institute, Genoa, Italy

Supported by the Parents’ Association A.S.L.T.I.-Liberi di crescere Onlus.

Written consent for data publication was obtained from the child’s parents.

P.F., C.D., and P.D’A.: performed the study, analyzed the data, and wrote the paper. P.F., A.M., M.M., C.M., and P.D’A.: clinical management of the patient. M.L., T.L., and S.I.: contributed essential reagents or tools.

The authors declare no conflict of interest.

Reprints: Clara Mosa, MD, U.O.C. di Oncoematologia Pediatrica, A.R.N.A.S. Civico, Di Cristina e Benfratelli, Piazza Nicola Leotta 4, Palermo 90127, Italy (e-mail:

Received January 14, 2013

Accepted May 20, 2013

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