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Results for “ECTODERMAL DYSPLASIA”

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At least 55 records · Page 3Linked to original sources
PubMed1989

Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome)

Hypohidrotic ectodermal dysplasia (HED) is a well-described, X-linked recessive disorder characterized by hypohidrosis, hypodontia, and hypotrichosis in males. Reports of similarly affected females have suggested autosomal recessive inheritance in some families. The evidence for two clinically identical but genetically distinct disorders is not convincing, however. In two families with X-linked recessive inheritance of HED, the condition was severe in females. A critical review of previously reported cases of presumed autosomal recessive HED suggests that an autosomal recessive form of the condition identical to the X-linked HED may not exist. All sporadic instances of females with classic HED should be considered to be X-linked recessive, and counseling for X-linked recessive inheritance as well as autosomal recessive inheritance should be given.

Anodontia↗
PubMed2004

Hypotrichosis and nail dysplasia: a novel hidrotic ectodermal dysplasia.

We report a unique isolated hair and nail ectodermal dysplasia in a 3-year-old girl. Clinical examination revealed short, sparse scalp hair, absent eyebrows, short eyelashes and nail dystrophy in all digits. Nail changes included shortened nail plate with distal onycholysis and loss of the cuticle. Sweating and teeth were normal. Development was normal. Scanning electron microscopy of the hair only demonstrated trichorrhexis nodosa. There was no pili torti. Vertically sectioned scalp biopsy revealed hypoplastic hair follicles and a horizontally sectioned biopsy showed a decrease in the overall number of hair follicles present. Treatment with topical minoxidil 5% 1 mL twice each day massaged into the scalp led to only minimal improvement and was discontinued after 12 months.

Child, Preschool↗
PubMed2002

Nasopharyngeal rhabdomyosarcoma in a patient with hypohidrotic ectodermal dysplasia syndrome.

Hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) is characterized by partial or complete absence of sweat glands, hypotrichosis, hypodontia, prominent frontal ridges and chin, saddle nose, sunken cheeks, thick, everted lips, large ears and sparse hair. While association of other ectodermal dysplasia syndromes with tumors such a non-Hodgkin's lymphoma, hamartoma, keratoakanthoma, Merkel-cell cancer, squamous-cell carcinoma, syringofibroadenomatosis has been reported, association of hypohidrotic ectodermal dysplasia and a tumor has not been reported. In a five-year-old male patient admitted with nasal obstruction and nasal mass complaints, we have reported firstly an association of hypohidrotic ectodermal dysplasia and nasopharyngeal rhabdomyosarcoma.

Biopsy↗
PubMed2006

Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency.

Anhidrotic ectodermal dysplasia with immunodeficiency is associated with multiple infections and a poor clinical outcome. Hypomorphic mutations in nuclear factor kappaB essential modulator (NEMO)/IkappaB kinase complex and a hypermorphic mutation in inhibitor alpha of nuclear factor kappaB (IkappaBalpha) both result in impaired nuclear factor kappaB activation and are associated with X-recessive and autosomal-dominant forms of anhidrotic ectodermal dysplasia with immunodeficiency, respectively. Autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency is also associated with a severe T-cell phenotype. It is not known whether hematopoietic stem cell transplantation can cure immune deficiency in children with anhidrotic ectodermal dysplasia with immunodeficiency. A boy with autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency and a severe T-cell immunodeficiency underwent transplantation at 1 year of age with haploidentical T-cell-depleted bone marrow after myeloablative conditioning. Engraftment occurred, with full hematopoietic chimerism. Seven years after transplantation, clinical outcome is favorable, with normal T-cell development. As expected, the developmental features of the anhidrotic ectodermal dysplasia syndrome have appeared and persisted. This is the first report of successful hematopoietic stem cell transplantation in a child with anhidrotic ectodermal dysplasia with immunodeficiency. Hematopoietic stem cell transplantation is well tolerated and efficiently cures the profound immunodeficiency associated with autosomal-dominant anhidrotic ectodermal dysplasia with immunodeficiency.

Chimerism↗
PubMed2004

Ocular symptoms and signs in patients with ectodermal dysplasia syndromes.

PURPOSE: The ectodermal dysplasia syndromes are underestimated although precise inclusion criteria have been formulated. The purpose is to establish easily detectable ophthalmologic symptoms and signs as reliable criteria for ectodermal dysplasia syndromes. METHODS: Thirty-six patients with confirmed ectodermal dysplasia syndromes were included in an observational case series: hypohidrotic ectodermal dysplasia (30), EEC syndrome (3), AEC syndrome (2), Gorlin-Goltz syndrome (1). Each patient was examined ophthalmologically. The principal outcome measures were ocular symptoms and signs in patients with different ectodermal dysplasia syndromes of varying severity. METHODS: Some 94.4% of the patients suffered from dry eye symptoms. Reduction of eyebrows was seen in 94.4%; the lashes were altered in 91.6%. Changes of the meibomian glands were detected in 95.45%. Corneal changes such as pannus occurred later in life. CONCLUSIONS: Alterations of the meibomian glands, which were detected by meibomianoscopy, are the most reliable ocular sign of ectodermal dysplasia syndromes.

Adolescent↗
PubMed1999

Breast reconstruction in ectodermal dysplasia.

Patients with ectodermal dysplasia may request breast reconstruction. In addition to abnormalities of other ectodermally derived structures, the breast and nipple-areolar complex may be absent or hypoplastic. Although this group of patients may have concerns with hair, nails, teeth, or even upper limb malformations, this report focuses on reconstruction of the breast anomalies. Four unrelated patients with ectodermal dysplasia who have undergone breast reconstruction are discussed.

Adult↗
PubMedDate not supplied

AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias.

Among the ectodermal dysplasias, there are several examples of overlapping phenotypes in disorders that are considered distinct. We report a 5-year-old boy born to nonconsanguineous parents and presenting with ectodermal dysplasia, ankyloblepharon filiforme adnatum, and bilateral choanal atresia consistent with the diagnosis of AEC syndrome. We compare the findings in our patient with the previous reported cases and discuss the overlapping phenotype of this disorder with CHAND syndrome.

Child, Preschool↗
PubMed1995

Clinical management of ectodermal dysplasia.

Children with ectodermal dysplasia may have hypodontia or anodontia and are often treated dentally with conventional adult appearing prosthesis which are focused only on the oral manifestations of the syndrome. This case report describes the management of an ectodermal dysplasia patient to provide improved aesthetics, function, and emotional development.

Anodontia↗
PubMed1990

Relation of ectodermal dysplasia and hypodontia.

Ectodermal dysplasia and hypodontia were diagnosed in three families who referred to Gazi University Pedodontic Department in 1989. From the view point of dentistry, it is intended to point out the genetic transitive character of ectodermal dysplasia and its possible relation with hypodontia. Also; some approaches to satisfy the patients in social and psychological aspects besides replacing the functional and cosmetic demands were carried out.

Adolescent↗
PubMed1989

[Potentials of the interdisciplinary care of children with ectodermal dysplasia].

Children with ectodermal dysplasia represent a group of patients demanding highly sophisticated dental care. Characteristic morphological and functional oral problems lead to special technical difficulties and additionally, the altered psychology of these children requires empathy in treatment. With respect to these problems, children with ectodermal dysplasia are treated in our clinics, multidepartmental cooperation. The interplay between stimulative, restorative and prosthodontic therapy has been shown to be of great benefit for these children.

Child↗
PubMed1992

Hair-nail dysplasia--a new pure autosomal dominant ectodermal dysplasia.

An apparently hitherto undescribed pure ectodermal dysplasia of the tricho-onychic subgroup is described. Its cause is an autosomal dominant gene with complete penetrance and variable expressivity. Differential diagnosis considered 18 conditions belonging to the same subgroup, as well as Clouston syndrome. This report increases the number of conditions of the tricho-onychic subgroup to 19, and the total number of ectodermal dysplasias to 155.

Diagnosis, Differential↗
PubMed2005

Treatment strategy for patients with ectodermal dysplasia: a case report.

Ectodermal dysplasia (ED) is a hereditary condition characterized by abnormal development of the skin, hair, nails, sweat glands, and the stomatognathic system. There are many different types of ectodermal dysplasia of which X-linked anhidrotic ectodermal dysplasia is the most common. Multiple genes have been discovered to cause ectodermal dysplasias. With any form of ED, children may display a range of symptoms and challenging rehabilitation. This clinical report presents the treatment plan for a young patient with ED and anodontia requiring prosthetic restoration.

Age Factors↗
PubMed1983

Trichoodontoonychial dysplasia--a new meso-ectodermal dysplasia.

We describe a hitherto apparently undescribed ectodermal dysplasia in four siblings. The condition combines severe hypotrichosis, hypoplasia of enamel leading to secondary anodontia, dystrophic nails, supernumerary nipples, nevus pigmentosus, bone deficiency of the fronto-parietal region, and other anomalies. This condition is probably due to an autosomal-recessive gene. ?

Adolescent↗