title: Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma.
abstract: We report a 6-year-old girl with a subtle form of hypohidrotic ectodermal dysplasia and a phenotype consisting of curly hair, a round face, a stocky build, and obesity, which was associated with intrathoracic neuroblastoma. Although this new association could be a chance occurrence, its description may alert physicians to look for similar combinations and report these, as it may lead to better syndrome delineation, and patient care.
authors.affiliation: Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Buoni
authors.forename: Raffaella
authors.initials: R
authors.lastname: Zannolli
authors.forename: Francesca
authors.initials: F
authors.lastname: Macucci
authors.forename: Massimo
authors.initials: M
authors.lastname: Molinelli
authors.forename: Massimo
authors.initials: M
authors.lastname: Viviano
authors.forename: Aldo
authors.initials: A
authors.lastname: Cuccia
authors.forename: Joseph
authors.initials: J
authors.lastname: Hayek
authors.forename: Luca
authors.initials: L
authors.lastname: Volterrani
authors.forename: Maria M
authors.initials: MM
authors.lastname: de Santi
authors.forename: Clelia
authors.initials: C
authors.lastname: Miracco
authors.forename: Alberto
authors.initials: A
authors.lastname: Fois
mesh_terms: D002648:Child; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis*; D005260:Female; D005335:Fever of Unknown Origin / Q000150:complications; D006197:Hair / Q000002:abnormalities; D006801:Humans; D009447:Neuroblastoma / Q000150:complications*; D009765:Obesity / Q000150:complications; D013545:Sweat Glands / Q000002:abnormalities; D013899:Thoracic Neoplasms / Q000150:complications; D014071:Tooth Abnormalities