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...

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Bibliographic Details
Published in:European journal of medical genetics 2016-05, Vol.59 (5), p.283-289
Main Authors: Pavone, Piero, Praticò, Andrea Domenico, Gentile, Giulia, Falsaperla, Raffaele, Iemmolo, Rosario, Guarnaccia, Maria, Cavallaro, Sebastiano, Ruggieri, Martino
Format: Article
Language:English
Subjects:
Child, Preschool
Developmental Disabilities - complications
Developmental Disabilities - physiopathology
Female
Growth Disorders - complications
Growth Disorders - physiopathology
Humans
Hyperpigmented macules
Hypopigmented macules
Medical Education
Microcephaly - complications
Microcephaly - physiopathology
Neurocutaneous syndromes
Neurocutaneous Syndromes - complications
Neurocutaneous Syndromes - physiopathology
Phenotype
Primary microcephaly
Short stature
Skin Abnormalities - physiopathology
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Summary: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.
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2016.03.002