title: A rare cause of syndromic hypotrichosis: Nicolaides-Baraitser syndrome.
abstract: Nicolaides-Baraitser syndrome (NBS) is a recognizable pattern of human malformations so far reported only in 5 patients. This condition is chiefly characterized by congenital hypotrichosis, peculiar facial gestalt, short metacarpals, interphalangeal swelling, and growth and mental retardation. Although skin manifestations represent a prominent NBS feature, no particular attention has been paid to this condition in the dermatologic literature. Here, we report on the sixth patient with NBS, who requested dermatologic evaluation because of congenital sparse scalp hair. An integrated approach that involved the dermatologist, clinical geneticist, and radiologist was crucial for diagnostic definition. Literature review was carried out to better define the NBS clinical spectrum and to perform an in-depth differential diagnosis with other malformation syndromes presenting with congenital hypotrichosis.
authors.affiliation: Medical Genetics, Experimental Medicine Department, Sapienza-University of Rome, San Camillo-Forlanini Hospital, Rome, Italy. mcastori@scamilloforlanini.rm.it
authors.forename: Marco
authors.initials: M
authors.lastname: Castori
authors.forename: Claudia
authors.initials: C
authors.lastname: Covaciu
authors.forename: Rosanna
authors.initials: R
authors.lastname: Rinaldi
authors.forename: Paola
authors.initials: P
authors.lastname: Grammatico
authors.forename: Mauro
authors.initials: M
authors.lastname: Paradisi
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D019066:Facies; D005260:Female; D006801:Humans; D007039:Hypotrichosis / Q000175:diagnosis*; D013577:Syndrome