Hypohidrotic ectodermal dysplasia and intrathoracic neuroblastoma.
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.
Buoni
Sabrina
S
Department of Pediatrics, Section of Pediatric Neurology, Policlinico Le Scotte, University of Siena, Siena, Italy.
Zannolli
Raffaella
R
Macucci
Francesca
F
Molinelli
Massimo
M
Viviano
Massimo
M
Cuccia
Aldo
A
Hayek
Joseph
J
Volterrani
Luca
L
de Santi
Maria M
MM
Miracco
Clelia
C
Fois
Alberto
A
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