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PubMed1996

Clouston syndrome (hidrotic ectodermal dysplasia) is not linked to keratin gene clusters on chromosomes 12 and 17.

Clouston syndrome is an hidrotic form of ectodermal dysplasia, inherited as an autosomal dominant trait with high penetrance. The main features of the disorder are alopecia, severe dystrophy of the nails, and palmoplantar hyperkeratosis. A molecular abnormality of keratin has long been hypothesized to be the basic defect in this disorder. We have performed linkage analyses between the disorder and markers close to the keratin gene clusters on chromosomes 12 and 17 and have excluded linkage to these candidate regions in three apparently unrelated families. In addition, linkage has been excluded to four other candidate regions including 1q2l, 17q23-qter, 18q2l, and 2Oql2. These data indicate that Clouston syndrome is not due to a defect in keratin or in a subset of keratin-associated proteins.

Chromosome Mapping↗

PubMed1986

Anhidrosis and absence of sweat glands in mice hemizygous for the Tabby gene: supportive evidence for the hypothesis of homology between Tabby and human anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome).

I have suggested that the X-linked gene Tabby (Ta) and its autosomal mimics in the mouse may be homologous with the genes for sex-linked anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome, CST) and its apparent autosomal mimics in the human. In the present study, I examined whether anhidrosis, a cardinal feature of CST, is present in the putative mouse sex-linked model, Tabby. The results demonstrate that whereas normal mice perspire on the volar and plantar surfaces of their paws, hemizygous Ta/Y male mice show anhidrosis and absence of sweat glands, as do human hemizygous male sufferers of CST. This result is strongly supportive of the hypothesis that Ta is homologous to the gene for CST.

Animals↗

PubMed1978

Heat loss in anhidrotic ectodermal dysplasia.

The dynamics of heat loss by 2 patients with classic anhidrotic ectodermal dysplasia were studied. Both were active in high school athletics and avoided heat injuries by various forms of behavior modification. Elevated core and skin temperature measurements were found at rest in comfortable environments. In a warm environment 35-45% of the heat generated was lost by radiation, 44-52% by conduction and convection, and only 4-6% by evaporation. Heat loss in control subjects was 9% by radiation, 17% by conduction/convection, and 67% by evaporation. The dry routes of heat dissipation used by the anhidrotic patients were inadequate to prevent a rise in core temperature.

Adolescent↗

PubMed2004

Homozygous splice site mutations in PKP1 result in loss of epidermal plakophilin 1 expression and underlie ectodermal dysplasia/skin fragility syndrome in two consanguineous families.

During the last years, a growing number of inherited skin disorders have been recognized to be caused by abnormal function of desmosomal proteins. In the present study, we describe the first female individuals affected with the ectodermal dysplasia/skin fragility syndrome (MIM604536), a rare autosomal recessive disease due to mutations in the PKP1 gene encoding plakophilin 1, a critical component of desmosomal plaque. One patient was shown to carry a homozygous splice site mutation in intron 4. The second patient displayed a homozygous recurrent mutation affecting the acceptor splice site of intron 1. Both mutations were associated with intraepidermal separation, widening of intercellular spaces, and abnormal desmosome ultrastructure, and were found to result in the absence of immunoreactive plakophilin 1 in the epidermis of the affected individuals. These two cases emphasize the role of molecular genetics in the assessment of congenital blistering in newborns and illustrate the importance of proper desmosomal activity for normal epidermis development and function.

Child, Preschool↗

PubMed2004

A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

Hypohidrotic ectodermal dysplasia (HED) is a genetic disease characterized by abnormal hair, teeth, and sweat gland development. Although most cases of HED display X-linked recessive inheritance, autosomal dominant and autosomal recessive forms also exist. X-linked HED is caused by mutations in the EDA gene, and the autosomal forms result from mutations in either the EDAR gene or the EDARADD gene. In this study, we identified compound heterozygous mutations in the EDAR gene in a Japanese female patient with HED. On the maternal allele is a novel splice donor site mutation of intron 2 leading to the generation of unstable transcripts with exon 2 skipping; on the paternal allele is a novel R375H transition within the death domain of EDAR. Using expression studies in tissue culture cells, we found that the R375H substitution in EDAR caused loss of its affinity for EDARADD and reduced activation of the downstream target NF-kappaB. Our findings indicate that both alleles of EDAR are non-functional in our patient, resulting in the HED phenotype.

Adult↗

PubMedDate not supplied

Mutation in the ED1 gene, Ala349Thr, in a Korean patient with X-linked hypohidrotic ectodermal dysplasia developing de novo.

Hypohidrotic ectodermal dysplasia (HED) is a very rare disease characterized by the virtual absence of eccrine glands, dry skin, scanty hair, and dental abnormalities. It is transmitted by an X-linked recessive gene or rarely an autosomal recessive gene. Therefore it is only males who fully express the condition. It is caused by mutations within the ED1 gene, which encodes a protein, ectodysplasin-A (EDA). Typically there is frontal bossing, saddle nose, pointed chin, a prominent supraorbital ridge with periorbital hyperpigmentation, and absence of teeth. Those affected show great intolerance to heat. In the current absence of effective treatment for many hereditary skin diseases, comprehensive, accurate prenatal or postnatal genetic counseling can provide information to parents at risk of having affected children. We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. Both parents and a 16-week gestational age fetus were healthy. We thought direct sequencing analysis for the ED1 gene using peripheral blood or amniotic fluid was preferable for an accurate diagnosis of this disease, although there was some risk of not detecting the mutation. After the results of this study were communicated to the parents, the mother was freed of her guilty feelings of the past 6 years and has now delivered a healthy male infant.

Adult↗

PubMed1986

Ketoconazole is effective against the chronic mucocutaneous candidosis of autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED).

Ketoconazole was administered as a single daily oral dose of 200 mg to 12 patients with chronic mucocutaneous candidosis (CMC) of autoimmune polyendocrinopathy-candidosis-ectodermal dystrophy (APECED). The study was double-blind and placebo-controlled, with 4-month therapy periods and crossover, and transfer to open-label ketoconazole therapy in cases of failure. During the double-blind trial, all six initially ketoconazole-treated patients showed a clear clinical and mycological improvement. In contrast there was no change or worsening in the initially placebo-treated group (p = 0.001). Oral candidosis cleared up in all patients, but more rapidly (less than 2 weeks) in those aged less than 25 years than in older patients (4-10 weeks; p = 0.001). Similarly, nail candidosis improved more rapidly in the younger group. All patients had a recurrence of the candidosis during 36-48 months of post-therapy follow-up. The recurrences likewise responded to ketoconazole. In one patient serum transaminase activities were transiently and marginally elevated during 2-6 weeks of therapy.

Adolescent↗

PubMed1995

Odontotrichodysplasia: a case report with a review of conditions combining ectodermal dysplasia (subgroup 1-2) with skin manifestations.

We report a 5-year-old girl with partial anodontia, hypotrichosis, hyperpigmentation of the skin, absence of pilosebaceous structures, and long thin fingers. There has as yet been, to the best of our knowledge, no report of such a combination of features. A review of conditions combining ectodermal dysplasia (subgroup 1-2) with skin manifestations is presented.

Anodontia↗

PubMed1999

A reactive acrosyringeal proliferation in a patient with ectodermal dysplasia: eccrine syringofibroadenoma-like lesion.

A 33-year-old man with ectodermal dysplasia (ED) has suffered from keratotic, exudative, erythematous plaques on the genital area, thighs, and soles since age 17. Verrucous soft nodules in a cobblestone arrangement developed on the erythematous plaque on his left thigh when he was 31 years old. Histologic examination of the verrucous nodules demonstrated that they were composed of anastomosing thin cords of uniform, cuboidal, epithelial cells and a fibrovascular stroma. The changes are indicative of eccrine syringofibroadenoma of Mascaro (ESFA), which has been reported as a neoplasm, a hamartoma, or a nevus. With etretinate treatment, the verrucous nodules completely disappeared within two months. Similar, but much flatter, verrucous lesions recurred and disappeared twice during the subsequent two years period. These verrucous lesions were likely induced by irritation from urine, stool, and/or mechanical friction. This case of ESFA in a patient with ED clearly showed a reactive process which was successfully managed with oral etretinate.

Adenoma, Sweat Gland↗

PubMed1992

Anaesthetic problems in a child with ectrodactyly, ectodermal dysplasia and cleft lip/palate. The EEC syndrome.

The EEC syndrome is a congenital anomaly complex associated with ectrodactyly, ectodermal dysplasia, and cleft lip and palate. We present a patient with the complete form of this syndrome who had undergone eight operations in childhood. The main problems encountered by the anaesthetists were malnutrition, difficulty with control of body temperature related to hypohidrosis and persistent infection of the respiratory tract.

Abnormalities, Multiple↗

PubMed2006

Preimplantation genetic diagnosis of skin fragility-ectodermal dysplasia syndrome.

Skin fragility-ectodermal dysplasia syndrome is an autosomal recessive disorder caused by loss-of-function mutations in the desmosomal protein, plakophilin 1. Clinically, there may be considerable morbidity from extensive skin erosions and painful fissures on the palms and soles. In the absence of any specific treatment, prenatal diagnosis is an option for couples at reproductive risk of recurrence. In 2000, we developed and applied a single cell nested polymerase chain reaction protocol to test one couple for compound heterozygous plakophilin 1 gene mutations by preimplantation genetic diagnosis (PGD). Although pregnancy was established, an unrelated trisomy 22 led to a spontaneous abortion. However, eight embryos of known genetic status were cryopreserved at that stage, and we planned to undertake subsequent frozen embryo replacement cycles that might lead to the birth of an unaffected child in this family. Embryo cryopreservation was carried out in June 2000 using standard protocols in a three-step freezing procedure. Four embryos were thawed in March 2003, one of which was viable and was used in a frozen embryo replacement cycle, but pregnancy did not occur. The remaining four embryos were thawed in February 2004, two of which were viable (both carriers of the paternal mutation) and these were used in a second frozen embryo replacement cycle, and a singleton pregnancy was established. The child's plakophilin 1 genotype was assessed by direct nucleotide sequencing across the site of both potential mutations. Following two frozen embryo replacement cycles, and almost 4 years after the initial embryo biopsy and mutation analysis, a pregnancy was achieved that progressed to term with the birth of a healthy baby girl. Nucleotide sequencing of cord blood DNA, taken immediately after delivery, showed that the child was a heterozygous carrier of the paternal mutation but not of the maternal mutation. This case demonstrates the value of embryo cryopreservation, which can increase the number of embryo replacement procedures and hence the cumulative pregnancy rate per retrieval cycle. Moreover, this is the first report of successful full-term pregnancy and birth of a healthy baby following exclusion of a severe genodermatosis by PGD. The successful outcome of PGD in this case illustrates what is technically possible for couples at risk of recurrence of a severe inherited skin disease.

Adult↗

PubMed1993

Longitudinal study of jaw growth and prosthetic management in a patient with ectodermal dysplasia and anodontia.

A patient with hypohidrotic ectodermal dysplasia and anodontia was studied clinically and cephalometrically from 6 to 18 years of age. This case is exceptional in that the patient was a young girl. Five sets of complete dentures were fitted during this period. Periodic recall examination and adjustment maintained good oral function and aesthetics. Serial cephalometric analysis of craniofacial development revealed that growth of the maxilla was slightly reduced, but there was no detectable effect in the mandible. Three-dimensional analysis of the alveolar ridge form from serial casts showed that increase of the anteroposterior arch dimension was larger than that of the lateral arch dimension in both jaws. There was a lateral expansion in the anterior and premolar regions and a considerable height increase in the posterior tooth region of the upper alveolar ridge. Our findings support those of Sarnart et al. (1953) in showing that lack of teeth did not affect growth of the jaws.

Anodontia↗

PubMed2005

Treatment outcomes for adolescent ectodermal dysplasia patients treated with dental implants.

UNLABELLED: To evaluate dental implant survival in patients with ectodermal dysplasia (ED). To assess patterns of hypodontia in this patient group. METHOD: . A retrospective analysis of the use of dental implants in ED patients treated at the Royal Children's Hospital, Melbourne. RESULTS: Sixty-one implants were placed into 14 patients (nine male and five female). The mean age of patients receiving maxillary implants was 18 years 6 months (range 17 years 9 months-20 years 0 months) and mandibular implants was 17 years 5 months (range 12 years 2 months-21 years 11 months). The mean follow-up period was 3 years 4 months (range 1 year 18 months-5 years 1 month). Forty-three implants were placed in the anterior mandible, three in the posterior mandible and the remaining 15 in the anterior maxilla. Of the 61 implants placed, 54 [88.5%] successfully integrated and were able to be restored. Three of the 15 implants placed into the anterior maxilla [20%] failed, while four of the 46 in the anterior mandible failed [8.7%]. Five of the 14 patients [35.7%] had at least one implant fail prior to abutment connection. At the 12-month review appointments, 41 of the integrated 54 implants [76%] were reviewed and classed as successful, giving an overall success at follow up of 67.2%. Thirteen implants [21.3%] were unable to be reviewed owing to geographical reasons. Teeth most likely to be present in the maxilla were the central incisors [71%], first molars [54%] and canines [43%], whereas in the mandible they were the canines [53%] and the first premolars and first molars [40%]. CONCLUSIONS: Dental implants can be placed, restored and loaded in ED patients. Maxillary teeth most likely to be present are the central incisors, canines and first molars, whereas in the mandible the canines, first premolars and molars are most likely to be present. Prior to cessation of growth, implant placement in the symphyseal region of the anterior mandible may be performed with caution. Despite the limited numbers and with due consideration to jaw development, the results support the continual use of endosseous dental implants in this group of patients for optimal clinical outcomes.

Adolescent↗

PubMed1975

Nude mouse embryo: ectodermal nature of the primordial thymic defect.

Sterile female homozygous nude mice were rendered fertile through a graft of thymic epithelium from heterozygous littermates 3 days after birth. Homozygous nude embryos were compared with embryos age (8-18 days). In nude mice, the embryological anomaly is noticeable from the 11th day of gestation and essentially consists of a failure of the ectoderm from the 3rd branchial cleft to proliferate and differentiate into a cervical vesicle. As a result, the endoderm from the 3rd pouch degenerates into cystic formations instead of differentiating.

Animals↗

PubMed1976

Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.

Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.

Abnormalities, Multiple↗

PubMed1976

Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature.

A family is described in which a father and son are affected with ectrodactyly, ectodermal dysplasia and cleft palate. This particular constellation of major malformations may constitute a variant form of the EEC syndrome which characteristically includes cleft lip with or without cleft palate. From a review of the cases previously reported in the literature, autosomal dominant inheritance is the most likely mode of transmission of these conditions.

Abnormalities, Multiple↗

PubMed1981

Athelia in a female infant - heterozygous for anhidrotic ectodermal dysplasia.

The case of a female infant with athelia is reported. Her mother, maternal aunt and grandmother show hypodontia, sparse hair and small breasts associated with mammillary hypoplasia. The clinical features and the results of MINOR's sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation.

Breast↗

PubMed1982

Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome.

An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp-Hodgkin's ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family.

Adult↗