Syndrome in question. Hay-Wells syndrome.
Hay-Wells syndrome or AEC (Ankyloblepharon, Ectodermal dysplasia and Cleft lip and palate syndrome) is a rare ectodermal disorder. The treatment is aimed to prevent clinical complications. We describe the case of a four-month old male patient with erosions on the scalp, trunk and arms, trachyonychia, deformity of the ears, micropenis, cleft palate, decreased eyebrow and eyelash hairs, in addition to antecedents of surgical correction of ankyloblepharon. The importance of the correct diagnosis is emphasized, besides the investigation of the associated diseases, treatment of complications and genetic counseling of the parents.
"Júlio de Mesquita Filho" Paulista State University, Botucatu, SP, Brasil.
Vanessa Mello
VM
Tonolli
"Júlio de Mesquita Filho" Paulista State University, Botucatu, SP, Brasil.
Hamilton Ometto
HO
Stolf
Lauro de Souza Lima Hospital, Bauru, SP, Brazil.
Cláudio Sampieri
CS
Tonello
University of São Paulo, São Paulo, SP, Brazil.
Rafaelle Batistella
RB
Pires
"Júlio de Mesquita Filho" Paulista State University, Botucatu, SP, Brasil.
Luciana Patricia Fernandes
LP
Abbade
D000015:Abnormalities, Multiple; D001706:Biopsy; D002971:Cleft Lip / Q000473:pathology*; D002972:Cleft Palate / Q000473:pathology*; D004476:Ectodermal Dysplasia / Q000473:pathology*; D004820:Epidermolysis Bullosa / Q000473:pathology*; D005124:Eye Abnormalities / Q000473:pathology*; D005143:Eyelids / Q000002:abnormalities* / Q000473:pathology; D006801:Humans; D007223:Infant; D008297:Male; D012535:Scalp / Q000473:pathology; D012867:Skin / Q000473:pathology