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Results for “ECTODERMAL DYSPLASIA”

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At least 541 records · Page 30Linked to original sources
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↗
PubMed2004

[Removable prosthesis in a 4-year-old child with nursing bottle caries and possible ectodermal dysplasia].

This case report represents a child that needed, at the age of 3, dental treatment under narcosis due to nursing bottle caries including multiple extractions. Six months later the few remaining teeth were again seriously affected by decay. Due to the medical history of urological problems, abnormal aspect of hair and skin and abnormal forms of primary teeth (only reported by the parents), there was a presumption of ectodermal dysplasia, so the patient was referred to the department of medical genetics. Genetic research is still going on. We decided to restore the remaining teeth in ambulant care with plastic restorations and stainless steel crowns. On demand of the parents, we decided to provide the child with a removable denture to increase his self-confidence. The child has now reached the age of 6 and has well accepted the removable denture. These served furthermore as an appliance to maintain space and prevent tooth migration. Removable dentures in young children can be a successful intermediate solution by lack of primary teeth.

Anodontia↗
PubMed1994

A neonate with ectodermal dysplasia ectrodactyly clefting syndrome and ventricular septal defect.

A 37-week gestation male boy was born to a gravida seven para six mother by spontaneous vertex delivery at home. The baby cried at birth. On day 3 of life, he was admitted for respiratory distress. Physical examination revealed ectrodactyly, thin dry skin, anomalous tear duct with cardiomegaly. X-ray revealed absent radii, cardiomegaly and hemivertebra at L1. Echocardiogram revealed perimembranous type of ventricular septal defect. A diagnosis of Ectodermal Dysplasia Ectrodactyly Clefting Syndrome with ventricular septal defect was made. He was managed conservatively in the nursery. However, he expired on day 27 of life following short spell of fever apnoeic episode due to neonatal sepsis.

Abnormalities, Multiple↗
PubMedDate not supplied

Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasia.

Gap junctions are formed by a polygenic family of more than 20 different connexin proteins. They mediate intercellular communication via the direct exchange of ions, metabolites and secondary messengers, thus controlling and coordinating cellular activities. Mutations in five gap junction genes, including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30.3), GJB6 (Cx30) and GJA1 (Cx43) are known to cause inherited hearing loss and/or disorders of the skin and its appendages, often giving rise to overlapping phenotypes. In this study we present a patient with hidrotic ectodermal dysplasia, who had abortive features of oculo-dento-digital dysplasia, extensive hyperkeratosis of the skin. The patient harbored a novel sporadic mutation (V41L) in GJA1 (Cx43) as well as a heterozygous coding variant (R127H) of GJB2 (Cx26). Our findings suggest that GJA1 mutations can produce variable clinical phenotypes on the background of sequence variants in other connexins.

Child↗
PubMed1989

Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature.

IBIDS is a syndrome characterized by ichthyosis, brittle hair, impaired intelligence, decreased fertility, and short stature, but unassociated with skeletal lesions. This condition is considered a form of trichothiodystrophy because hair from several cases has been found to have a low sulfur content. We describe a 9-year and 10-month-old white boy whose clinical features resemble the IBIDS syndrome (ichthyosis, brittle hair, cataracts, and short stature), but who also has marked axial osteosclerosis and peripheral osteopenia. No abnormalities of mineral homeostasis were noted. Histopathologic assessment of nondecalcified bone specimens excluded osteopetrosis, but suggested slow skeletal remodeling. When subjected to polarized light microscopy, his hair exhibited the band-like pattern of birefringence described in trichothiodystrophy. Literature review disclosed 8 patients, 2 of whom had been diagnosed as trichothiodystrophy, with like clinical features including osteosclerosis. These skeletal abnormalities together with clinical features of the IBIDS/trichiodystrophy syndrome, we believe, reflect the prototype of a disorder that seems best described as central osteosclerosis with ectodermal dysplasia.

Bone and Bones↗
PubMed1982

[Type III shortrib-polydactyly syndrome (Verma-Naumoff) in concomitance with ectodermal dysplasia (author's transl)].

Reported in this paper is a case of shortrib-polydactyly syndrome in a stillborn male infant. The case was identified as Type III (Verma-Naumoff) on account of typical skeletal findings, such as very short ribs, micromelia, postaxial hexadactyly of all extremities, and shortened cranial base, with due consideration being also given, in that context, to characteristic radiographic and histological changes, including metaphysial spurs of long cylindrical bones. Malformations were recorded also from kidneys, ureters, small intestine, and pancreas.--Thin downy head-hair, missing eyebrows, precocious dentition, as well as partial hypoplasia and aplasia of nails were interpreted as signs of ectodermal dysplasia.--Shortrib-polydactyly syndrome is based on autosomal recessive inheritance. Early genetic advice should be offered to parents. Systematic prenatal diagnosis is necessary in case of another pregnancy.

Abnormalities, Multiple↗
PubMed2001

Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infection.

Familial Incontinentia pigmenti (IP) is a rare X-linked dominant condition. The affected cases have characteristic skin lesions, hair, eye, teeth and nail abnormalities and may also have neurological problems. The diagnosis has traditionally been made on clinical grounds. Segregation analysis has suggested that it is lethal in males. Only one liveborn male has been reported who died at one day of age. Female cases of IP survive because of the moderating effects of Lyonization. This child was the affected son of a female with IP. He had a novel phenotype consistent with hypohidrotic ectodermal dysplasia with immune deficiency (HED-ID) but with additional features: he had major problems with hematological disturbances, failure to thrive due to malabsorption, recurrent infections, generalized osteosclerosis and lymphedema of his lower limbs. He also demonstrated some typical features of IP with a generalized reticular skin hyperpigmentation, sparse hair and delayed eruption of teeth. The gene for NEMO (NF-kappa B Essential Modulator) has recently been shown to be mutated in cases of IP. Furthermore, most (80%) of patients possess a recurrent genomic rearrangement that deletes part of the gene resulting in an inactive NEMO protein. In the male case described here, a NEMO stop codon mutation has been identified that has arisen de novo in his affected mother. This mutation is likely to have a less severe effect on NEMO activity and may explain why this child survived for two years and 7 months.

Codon, Terminator↗
PubMed2005

Focal palmoplantar and gingival keratosis: a distinct palmoplantar ectodermal dysplasia with epidermolytic alterations but lack of mutations in known keratins.

Focal palmoplantar and gingival keratosis is a rare autosomal dominant disease whose clinical features, and in particular, pathologic alterations and molecular etiology remain to be well defined. Recently we observed a German family affected by the disease in at least 3 consecutive generations. The 4 patients examined showed circumscribed and painful hyperkeratosis at the weight-bearing plantar skin since infancy, rather mild palmar hyperkeratosis, and continuous leukokeratosis confined to the maxillary and mandibulary attached gingiva. There were no nail changes, subungeal keratoses, or follicular hyperkeratosis. Light and electron microscopy of the plantar and gingival lesions revealed alterations of epidermolytic hyperkeratosis. Mutations in the known keratin genes were excluded by linkage analysis using microsatellite markers. We conclude that focal palmoplantar and gingival keratosis is a clinically distinct palmoplantar ectodermal dysplasia that is pathologically characterized by epidermolytic alterations, but is most probably not caused by a mutation in a keratin gene.

Adult↗
PubMed1976

X-linked anhidrotic ectodermal dysplasia with some unusual features.

A total of 85 members of a family in which several individuals presented with hypodontia, hypotrichosis, and hypohidrosis were examined. Of these, 77 were evaluated clinically and the results compared with those obtained in an equal number of carefully chosen controls. The main symptoms among the affected males and females involved changes in the quantity and texture of head hair and in the distrubution of body hair. More than half of the males also showed precocious baldness, and 6 of them had dyskeratosis. The average of missing teeth was 12 among men with the syndrome, but only 2 among the obligate female carriers. The sweat pore counts were lower in the two sexes (42% and 60% of the normal values, respectively), and a much higher degree of asymmetry was observed especially among the affected women. Inheritance of the syndrome seems to be the result of a dominant sex-linked gene with 78% to 87.5% penetrance in the females. Genetic data concerning anhidrotic ectodermal dysplasia are still unsatisfactory; new, more detailed studies are needed, in which special attention is given to the female carriers.

Anodontia↗
PubMed2002

Genotype-phenotype correlation in skin fragility-ectodermal dysplasia syndrome resulting from mutations in plakophilin 1.

We report a 42-year-old Japanese man with an unusual autosomal recessive genodermatosis. The clinical features comprised normal skin at birth, loss of scalp hair at 3-months of age after a febrile illness, progressive nail dystrophy during infancy, palmoplantar keratoderma starting around the age of 18 years and trauma-induced skin fragility and blisters noted from the age of 20 years. Skin biopsy of rubbed non-lesional skin revealed widening of spaces between adjacent keratinocytes from the suprabasal layer upwards. Electron microscopy demonstrated a reduced number of hypoplastic desmosomes. Immunohistochemical labeling showed a reduction in intercellular staining for the desmosome component plakophilin 1. Mutation analysis revealed a homozygous intron 11 donor splice site mutation in the plakophilin 1 gene, 2021+1 G>A (GenBank no. Z34974). RT-PCR, using RNA extracted from the skin biopsy, provided evidence for residual low levels of the full-length wild-type transcript (approximately 8%) as well as multiple other near full-length transcripts, one of which was in frame leading to deletion of 17 amino acids from the 9th arm-repeat unit of the plakophilin 1 tail domain. Thus, the molecular findings help explain the clinical features in the patient, who has a similar but milder phenotype to previously reported patients with skin fragility-ectodermal dysplasia syndrome associated with complete ablation of plakophilin 1 (OMIM 604536). This new 'mitis' phenotype provides further clinicopathological evidence for the role of plakophilin 1 in keratinocyte cell-cell adhesion and ectodermal development.

Adult↗
PubMed1988

The team approach to the management of ectodermal dysplasias.

1. The medical and dental needs of ED patients require multidisciplinary treatment. Because of the difficulty in identifying centers with genetic and dental services, locating the availability of these services should be undertaken first. 2. A team member for the specialties of genetics, pediatrics, dermatology, opthalmology, otolaryngology, orthodontics, prosthetics, and pediatric/general dentistry must be identified at each center. 3. An individual to act as liaison with other groups must be identified. 4. A team leader must be named; this individual may be the same or different from the specialists, and local teams must be established. 5. A protocol for communication among national and regional centers, identified specialists, and local teams must be established. 6. Each center should attempt to identify specialists in the region interested in participation. 7. Demographics of identified families need to be established. 8. As patient populations are found, the need for new centers can be identified. 9. As groups of the necessary specialists are identified in a need area, the establishment of new centers can begin. 10. A protocol for uniform record keeping and the centralization of the record base should be established. 11. Treatment protocols should be established to allow coordination of treatment and to support the research aspects of the centers. 12. Efforts need to be directed at establishing financial support for treatment not covered by third-party carriers. 13. Lobbying efforts need to be planned to seek changes in existing laws to provide for adjunctive dental care coverage under medical insurance policies. 14. Efforts need to be initiated to seek private and public funding for the centers. Grant preparation needs to be undertaken to seek support for research activities. 15. A protocol for the recording of ectodermal dysplasia information through a central registry, as is done through the Centers for Disease Control (CDC) with other recognized birth defects, is called for.

Ectodermal Dysplasia↗