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: firstname.lastname@example.org).
Received January 14, 2013
Accepted May 20, 2013