Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia.
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Adult↗
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Results for “ECTODERMAL DYSPLASIA”
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An unusual case of ectodermal dysplasia.
The syndrome was characterized by striking hypoplasia of nails, malformations of hands and feet, curly hair, small lower teeth and seizures. There were no similarly affected relatives. Death occurred at 31 months with the patient apparently in status epilepticus with terminal hepatorenal syndrome.
Child, Preschool↗
Ectodermal dysplasia syndrome with eyebrow alopecia, ptosis, strabismus, nystagmus, joint laxity, cerebellar ataxia, and osteopenia.
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Abnormalities, Multiple↗
Hidrotic ectodermal dysplasia of hair, teeth, and nails: case reports and review.
We report two families with the Witkop "tooth and nail syndrome". This term is a misnomer, as the hair was mildly involved in the original case reports and in the families reported here.
Child, Preschool↗
Ankyloblepharon, ectodermal dysplasia, cleft lip and palate (AEC) syndrome: surgical corrections with an 18-year follow-up including maxillary osteotomy.
A rare case of AEC syndrome is presented. Surgical corrections and an 18-year follow-up, including maxillary advancement osteotomy, are described.
Abnormalities, Multiple↗
[Primary anodontia in X-linked hidrotic ectodermal dysplasia].
Nine patients with congenital deciduous and permanent adentia are described for the first time in Russia. Published reports are reviewed and recommendations on the DNA and prenatal diagnosis offered, which permit detecting women at a high risk of giving birth to handicapped children.
Adult↗
Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes.
A syndrome consisting of a hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, seborrheic dermatitis of the scalp, and hypofunction of the sweat glands with rough dry skin is inherited as an autosomal dominant trait in a kindred of Caucasian ancestry.
Child↗
Mutations in GJB6 cause hidrotic ectodermal dysplasia.
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Amino Acid Sequence↗
An unusual ectodermal dysplasia with unique eye defects.
We report a 12-year-old boy with dental, auricular, nasolacrimal duct and unique eyelid anomalies as well as cribriform scrotal atrophy. We believe this is the first description of such a case, although many of the features fit within the spectrum of the ankyloblepharon/ectodermal dysplasia/clefting (AEC) syndrome.
Atrophy↗
18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.
The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.
Abnormalities, Multiple↗
Ectodermal dysplasia with total anodontia: rehabilitation of a seven year old child.
Total anodontia in a paediatric patient is a difficult prosthetic problem. Upper and lower complete dentures were fabricated for a 7 year old patient with anodontia. The problems encountered on account of the age of the child, the absence of alveolar processes, the tooth size and acceptability of the dentures are discussed herein.
Anodontia↗
Alveolar bone growth in response to endosteal implants in two patients with ectodermal dysplasia.
The occurrence of alveolar bone growth after placement of endosteal mandibular implants in two edentulous children is reported. The fact that alveolar bone growth occurred in the absence of natural teeth suggests that its growth and preservation is dependent upon biomechanical factors rather than the presence of teeth, as is traditionally thought.
Adolescent↗
MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.
PIBI(D)S is a acronym for a very rare autosomal recessive syndrome consisting of photosensitivity, mild non-congenital ichthyosis, brittle cystine-deficient hair, impaired intelligence, occasionally decreased fertility and short stature. We report a 12-year-old female patient affected by PIBI(D)S with previously unreported MRI findings of central nervous system dysmyelination.
Basal Ganglia↗
[Ectodermal dysplasia and exocrine pancreatic insufficiency--a familial syndrome].
A syndrome was observed in two sisters which was characterized by a median defect of the hair of the head, hypoplasia of the ala nasi, absence of the permanent teeth, microdontia of the deciduous teeth, and exocrine insufficiency of the pancreas. This syndrome is probably autosomal regressive; the symptoms are similar to those of Johanson-Blizzard syndrome.
Child↗
Anodontia with hypohidrotic ectodermal dysplasia in a young female: a case report.
A five-year-old Japanese girl was referred to our clinic for non-eruption of the teeth. Panoramic radiographs revealed absence of all teeth of both primary and permanent dentitions. She showed hypotricosis, hypohidrosis, and anodontia. In this article, the reported cases of anodontia were reviewed and the fabricating procedure of full dentures for a young child was described.
Anodontia↗
[Chronic obstructive bronchopneumopathy and ectodermal dysplasia].
A boy, 5 year aged, admitted in intensive therapy room because affected by respiratory insufficiency, is reported. Recurrent lower respiratory tract infections and three surgical operation in the lacrimal ducts were present in the anamnesis. Clinical and radiologic features of chronic obstructive pneumonia were present. Hypotrichosis, onychodystrophy, microdontia, associated with absence of muciparous glands and greatly reduced muciparous cells of respiratory tract, were other findings.
Bronchi↗
[Anhydrotic ectodermal dysplasia].
The purpose of this paper is to report a boy with a typical case of anhydrotic ecotdermal dysplasia, spina bifida occulat, and abnormal dermatoglyphics. Histologic studies of the skin showed absence of sebaceous and sweat gland and hair follicles. The clinical examination of the mother and the histopathological report of her skin suggests sex linked transmission; however, an autosomal dominat gene limited to males can not be excluded.
Biopsy↗
A newly recognized autosomal dominant ectodermal dysplasia syndrome: the odonto-tricho-ungual-digital-palmar syndrome.
We report on two brothers, their mother, and 18 other relatives of five generations presenting an apparent newly recognized syndrome involving natal teeth, trichodystrophy, prominent interdigital folds, simian-like hands with transverse palmar creases, and ungual digital dystrophy, inherited as an autosomal dominant trait. In addition, the patients had hypoplasia of the first metacarpal and metatarsal bones and distal phalanges of the toes.
Adult↗