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PubMedDate not supplied

[Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers].

We report a now three year old male patient with ectodermal dysplasia and a polysaccharide specific humoral immunodeficiency. Immunological investigations showed compromised production of IgA, IgM, and IgG2. Isohaemagglutinins still were not detectable at the age of three years. Repeated vaccination with polyvalent pneumococcal polysaccharide vaccine did not result in production of specific antibodies. Two brothers showed clinical signs of ectodermal dysplasia. The elder brother died from pneumococcal sepsis at the age of 3 years. The younger brother suffers from chronic inflammatory gastrointestinal disease with ulcerations in all parts of the gastrointestinal system. Thus, a possible association between polysaccharide specific humoral immunodeficiency and ectodermal dysplasia may be considered.

Anti-Bacterial Agents↗
PubMed2005

De novo missense mutation, S541Y, in the p63 gene underlying Rapp-Hodgkin ectodermal dysplasia syndrome.

Rapp-Hodgkin syndrome (RHS) is an autosomal dominant disorder characterized by ectodermal dysplasia and cleft lip/cleft palate. Very recently, mutations in p63 have been identified as a cause of RHS; to date five such mutations have been identified. We describe a Thai girl with RHS. She had short stature, ectodermal dysplasia, epiphora, cleft lip, cleft palate, and normal development. Mutation analysis for the entire coding region of p63 identified a novel and de novo mutation, 1622C--> A (S541Y), in the SAM domain, predicting an abnormal alpha tail of the p63alpha protein isotypes. This observation supports that majority of patients with RHS are caused by mutations affecting the tail of p63alpha, a region that also contains most of the pathogenic mutations in ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome.

Abnormalities, Multiple↗
PubMed1995

[Ectodermal dysplasia: a heterogenic deviation].

The 'problem' of ectodermal dysplasia is discussed in conjunction with a case report and a review of the literature. In a range of hereditary disorders all ectodermal structures can be effected in a variable way: reduction of the amount of hair, sweat glands and sebaceous glands, and a complete or partial anodontia of the deciduous and permanent dentition with malformation of the erupted teeth.

Adult↗
PubMed1998

A case of probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis.

We describe a woman with a probable autosomal recessive ectodermal dysplasia with corkscrew hairs and mental retardation in a family with tuberous sclerosis. Other findings included syndactyly, typical facies, dental abnormalities, dermatoglyphic hypoplasia, epidermal ridge sweat pore count slightly below normal, and keratosis pilaris. Clinical studies and genetic analysis excluded the diagnosis of tuberous sclerosis in our patient. We conclude that she has ectodermal dysplasia associated with mental retardation. This association has been described previously; it suggests the possible interrelationship of a community of ectodermal dysplasia syndromes with a distinctive structural hair abnormality (pili torti et canaliculi), variable midfacial malformations, limb defects, and other features such as mental retardation. The similarity of our patient to that described by Whiting et al. and Abramovits-Ackerman et al. suggests the autonomy of this syndrome.

Adult↗
PubMed1989

Improved definition of carrier status in X-linked hypohidrotic ectodermal dysplasia by use of restriction fragment length polymorphism-based linkage analysis.

The detection of carriers of the X-linked disorder hypohidrotic ectodermal dysplasia is problematic because of random X-inactivation; the diagnosis was previously based on the observation of subtle defects in ectodermal structures in at-risk females. Linkage studies have recently mapped hypohidrotic ectodermal dysplasia to the region Xq11-q21.1. We assessed the improvement in carrier detection by the method of linkage analysis, in which restriction fragment length polymorphisms were used as markers, in 72 at-risk female members of 29 families. Carriers analyses were based on pedigree information, dental examination of at-risk females (phenotype), and DNA analyses at seven linked marker loci. Linkage analysis based on restriction fragment length polymorphisms significantly improved risk estimates over those based on phenotype and pedigree alone. When all available information was combined, 85% (61/72) of the at-risk females had final risks of less than 5% or greater than 95%, and 68% (49/72) had risks less than 1% or greater than 99%. A diagnosis of hypohidrotic ectodermal dysplasia was also excluded (97.5% probability) by DNA and linkage analyses from a sample of cord blood from an at-risk male; a similar approach can be taken for prenatal diagnosis of the disorder.

Bayes Theorem↗
PubMed1978

Impairment of cell-mediated immunity in ectodermal dysplasia with aplastic anemia.

A case of ectodermal dysplasia and aplastic anemia is presented in which a cell-mediated immunodeficiency led to a fatal Pneumocystis carinii infection. Elevated levels of IgG, IgA and IgD were present with normal specific antibody titres. A deficient cell-mediated immunity was documented by low T cell numbers, poor in vitro mitogenic responses, negative skin tests and by the histologic finding at autopsy of thymic dysplasia.

Anemia, Aplastic↗
PubMed1998

Ectodermal dysplasia, primary hypothyroidism, and agenesis of the corpus callosum: variable expression of a single syndrome?

We present two unrelated children, a male and a female, with signs of ectodermal dysplasia, mental retardation, agenesis/ dysgenesis of the corpus callosum, and primary hypothyroidism. Reports of ectodermal dysplasia with CNS malformations or hypothyroidism or both are rare. We suggest that the condition we describe is a distinct entity within the large group of ectodermal dysplasia syndromes and that it has a variable clinical spectrum. As both males and females are affected and in a few reports some parents show minimal signs, the inheritance is likely to be autosomal dominant.

Agenesis of Corpus Callosum↗
PubMed2000

Hypohydrotic ectodermal dysplasia: an unusual presentation and management in an 11-year-old Xhosa boy.

Ectodermal dysplasia (ED) is an inherited disorder in which two or more ectodermally derived structures fail to develop, or are abnormal in development. Hypohydrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome, is an X-linked recessive syndrome with an incidence of 1/10,000 to 1/100,000 births. Because of its X-linked inheritance pattern, it is more common in males. HED is characterised by hypohydrosis (diminished perspiration), hypotrichosis (decreased amount of hair) and microdontia (small teeth), hypodontia (lack of development of one or more teeth) or adontia (total lack of tooth development). These patients present diagnostic and treatment challenges because of variable oral manifestations. This report describes an 11-year-old Xhosa boy, who was referred to the University Dental Faculty by his general medical practitioner because of hypodontia. General facial features included: frontal bossing, a depressed nasal bridge, 'butterfly' pattern of eczema over the nasal bridge to the malar process of each cheek, thinned out hair, loss of vertical dimension of face and dry skin. Intra-oral examination revealed hypodontia with peg-shaped anterior teeth and diastemas. Radiological examination revealed no developing permanent teeth or tooth buds. Diagnosis was confirmed by doing a sweat gland count. Management included oral hygiene instruction, fluoride treatments, construction of a partial lower denture and counselling about his condition with particular reference to the danger of hyperthermia and control of allergies.

Anodontia↗
PubMed2003

Penetrating keratoplasty and keratolimbal allograft transplantation for corneal perforations associated with the ectodermal dysplasia syndrome.

PURPOSE: To report two patients with ectodermal dysplasia-associated keratopathy treated with keratolimbal allograft transplantation and penetrating keratoplasty. METHODS: Two patients with ectodermal dysplasia suffered multiple corneal perforations. In both patients, keratolimbal allograft transplantation was performed along with penetrating keratoplasty. Histopathology of the corneal buttons was obtained. RESULTS: Histopathologic examination showed chronic inflammation with thin, irregular epithelium, loss of stromal tissue, and thin or absent Bowman's membrane. Both patients had multiple contributing factors predisposing them to corneal perforations including an inherent ectodermal defect, trichiasis, poor tear film, and limbal stem cell deficiency. CONCLUSIONS: Patients with keratopathy and corneal perforations associated with the ectodermal dysplasia syndrome has a poor prognosis. Keratolimbal allograft transplantation may have a role in the treatment of this disease. Longer follow-up and additional case reports will determine whether this technique confers a better prognosis than keratoplasty alone.

Adult↗
PubMed1997

Autosomal dominant hypohidrotic ectodermal dysplasia in a large family.

We have studied an autosomal dominant hypohidrotic ectodermal dysplasia in 38 individuals over six generations in one family. Thirty-two affected individuals in four generations are still living. Questionnaire responses were received from 21 of the affected relatives and some of the individuals were examined by one of the authors. Smooth, dry, thin skin is seen in most affected individuals. Nearly all have fine, slow-growing scalp and body hair and all have sparse eyebrows and short eyelashes. Nearly all show a decrease in sweating, with some only sweating under the arms and/or on the palms and soles. All affected individuals lacked some deciduous teeth and some permanent teeth. Some teeth are abnormally shaped. Nail abnormalities are more variable and may occur more frequently with increasing age. No other abnormalities are seen in affected individuals in this family. We reviewed 40 autosomal dominant ectodermal dysplasia syndromes. This family bears some resemblance to a family described by Jorgensen et al. [1987]; however, it appears to represent a disorder that has not been described previously.

Abnormalities, Multiple↗
PubMed1988

Familial occurrence of eccrine tumours in a family with ectodermal dysplasia.

In two brothers and their sister, ectodermal defects including hypodontia, onychodystrophia, trichodysplasia and palmoplantar keratosis were observed. In addition to the ectodermal dysplasia a diffuse palmoplantar eccrine hyperplasia was noted as well as tumours and cysts of eccrine origin. This seems to be the first report of familial occurrence of eccrine tumours.

Adenocarcinoma↗
PubMed1991

Autosomal recessive ectodermal dysplasia: I. An undescribed dysplasia/malformation syndrome.

We describe 27 individuals of 7 families related to each other with high probability who showed manifestations of ectodermal dysplasia and other anomalies affecting females as severely as males with variable expressivity. All parents were normal. These families were detected in a relatively isolated and inbred population with very small neighbouring communities from a Caribbean Sea island, Margarita Island, in Northeastern Venezuela (Nueva Esparta State). The clinical picture common to all patients could not be classified within the heterogeneous group of known ectodermal dysplasias and the published cases do not resemble our patients. We believe that this condition constitutes a newly recognized autosomal recessive dysplasia/malformation syndrome of ectodermal dysplasia.

Adolescent↗
PubMedDate not supplied

A child with hypohidrotic ectodermal dysplasia with features of a collodion membrane.

Collodion membrane is a presenting phenotype common to several disorders, predominantly congenital ichthyoses. Seventy percent of infants born with hypohidrotic (anhidrotic) ectodermal dysplasia are noted by their parents to have significant scaling and peeling. Although dry skin is a frequently reported sign in children with hypohidrotic ectodermal dysplasia, only one French study has reported a true collodion membrane at birth. We suspect that scaling with features of collodion membrane is more common in infants than is reflected in the literature, and we describe another such infant, later diagnosed with hypohidrotic ectodermal dysplasia.

Ectodermal Dysplasia↗
PubMed1987

The ectodermal dysplasias.

In order to be considered an ectodermal dysplasia, a disorder should meet the following criteria: it must be congenital; it must be diffuse (not localized) and must involve the epidermis as well as at least one of its appendages; and it must not be progressive. Included is a discussion of some well-documented, as well as some newer, conditions about which there appears to exist enough information to make some decisions concerning their categorization.

Arthrogryposis↗
PubMed1992

Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.

Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and microcephaly. The condition is probably due to an autosomal recessive gene, the parents being gypsies of the same ancestral origin.

Adult↗