title: A neurocutaneous phenotype with paired hypo- and hyperpigmented macules, microcephaly and stunted growth as prominent features.
abstract: Neurocutaneous disorders represent a heterogeneous group of conditions affecting the skin (with pigmentary/vascular abnormalities, hamartomas or tumors) and the central and peripheral nervous systems. In recent years, besides the well-known neurocutaneous diseases (e.g., the different forms of neurofibromatosis, tuberous sclerosis complex, Sturge-Weber syndrome and mosaic pigmentary/hamartomatous disorders), new distinctive syndromes have been characterized, extending our knowledge on the spectrum of these conditions. The concurrent presence of pigmentary abnormalities (both of the hypo- and hyperpigmented type), and primary microcephaly has not been commonly reported. We report on a 4.5-year-old girl with primary microcephaly, who had in addition moderate to severe developmental delay, behavioral and stereotypic abnormalities and a cutaneous pattern of paired hypo- and hyperpigmented lesions variously distributed over the body, particularly on the trunk. Failure to thrive and mild facial dysmorphic features were also present. To our knowledge, this complex malformation (neurocutaneous) phenotype has not been previously reported.
authors.affiliation: Unit of Pediatrics and Emergency Paediatrics, AOU "Policlinico-Vittorio Emanuele", Catania, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.affiliation: Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy; Department of Biomedical and Biotechnological Medicine, University of Catania, Italy. Electronic address: terrenere178@tin.it.
authors.forename: Andrea Domenico
authors.initials: AD
authors.lastname: Praticò
authors.affiliation: Institute of Neurological Sciences, Italian National Research Council, Section of Catania, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Gentile
authors.affiliation: Unit of Pediatrics and Emergency Paediatrics, AOU "Policlinico-Vittorio Emanuele", Catania, Italy.
authors.forename: Raffaele
authors.initials: R
authors.lastname: Falsaperla
authors.affiliation: Institute of Neurological Sciences, Italian National Research Council, Section of Catania, Italy.
authors.forename: Rosario
authors.initials: R
authors.lastname: Iemmolo
authors.affiliation: Institute of Neurological Sciences, Italian National Research Council, Section of Catania, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Guarnaccia
authors.affiliation: Institute of Neurological Sciences, Italian National Research Council, Section of Catania, Italy.
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Cavallaro
authors.affiliation: Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, Italy.
authors.forename: Martino
authors.initials: M
authors.lastname: Ruggieri
mesh_terms: D002675:Child, Preschool; D002658:Developmental Disabilities / Q000150:complications / Q000503:physiopathology*; D005260:Female; D006130:Growth Disorders / Q000150:complications / Q000503:physiopathology*; D006801:Humans; D008831:Microcephaly / Q000150:complications / Q000503:physiopathology*; D020752:Neurocutaneous Syndromes / Q000150:complications / Q000503:physiopathology*; D010641:Phenotype; D012868:Skin Abnormalities / Q000503:physiopathology
keywords: Hyperpigmented macules; Hypopigmented macules; Neurocutaneous syndromes; Primary microcephaly; Short stature