TY - JOUR
T1 - Estudio clínico y molecular en una familia con displasia ectodérmica hipohidrótica autosómica dominante
AU - Callea, Michele
AU - Cammarata-Scalisi, Francisco
AU - Willoughby, Colin E
AU - Giglio, Sabrina R
AU - Sani, Ilaria
AU - Bargiacchi, Sara
AU - Traficante, Giovanna
AU - Bellacchio, Emanuele
AU - Tadini, Gianluca
AU - Yavuz, Izzet
AU - Galeotti, Angela
AU - Clarich, Gabriella
N1 - Sociedad Argentina de Pediatría.
PY - 2017/2/1
Y1 - 2017/2/1
N2 - Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.
AB - Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.
U2 - 10.5546/aap.2017.e34
DO - 10.5546/aap.2017.e34
M3 - Articolo
C2 - 28097853
VL - 115
SP - e34-e38
JO - Archivos Argentinos de Pediatria
JF - Archivos Argentinos de Pediatria
SN - 0325-0075
IS - 1
ER -