Hypohidrotic ectodermal dysplasia: a review and case report.
A case involving a 5-year-old girl with hypohidrotic ectodermal dysplasia is presented. A review of the disease and the treatment options for patients is discussed.
Child, Preschool↗
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[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↗
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↗
[Hidrotic ectodermal dysplasia syndrome--trichooculodermatovertebral syndrome].
We report on a 23-year-old women suffering from a hidrotic ectodermal dysplasia with baldness, xerodermia, kyphosis of the chest, hypopigmented mamillae, disturbances of the menstrual cycle, dysphonia and keratitis punctata superficialis recidivans. The complex condition is classified as a tricho-oculo-dermo-vertebral syndrome. Immunohistological findings suggest a combined alteration of epithelial differentiation of hair follicles and interfollicular epidermis.
Adult↗
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↗
Atrophic rhinitis in a patient with anhidrotic ectodermal dysplasia.
We would like to present the rare case of a now 37-year old female patient with autosomal-recessively inherited anhidrotic ectodermal dysplasia being treated in our ENT department for atrophic rhinitis. The clinical appearance very much resembled the picture of an "empty nose" with distinct hypoplasia of the turbinates and extensively wide nasal cavities. We want to point out the possible existence of atrophic rhinitis against the background of an underlying syndromatic disease in adults and also the pediatric patient.
Adult↗
[Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion].
OBJECTIVE: To investigate the possibility of prenatal diagnosis of the fetal suspected to be affected by anhidrotic ectodermal dysplasia (EDA) in a family with X-linked EDA so as to provide a basis for prenatal diagnosis and genetic counseling of this disorder. METHODS: Pedigree analysis and genetic counseling were performed in a family after a proband was diagnosed with EDA. The peripheral blood samples were collected from the proband, a 12-year-old boy, his mother, and his 2 aunts, one being pregnant, to undergo chromosome karyotype analysis. The fetus Puncture of umbilical vein was performed to collect the blood of fetus for chromosome examination. Induced abortion was conducted due to the diagnosis of the fetus with EDA. Autopsy, immunohistochemistry of the skin tissues of face, breast, epigastrium, and thigh, and X-ray photography of the lower jawbone were made. RESULTS: Pericentric inversion occurring at one of the X-chromosome [inv (x) (p22q13)] was found in the proband and his nephew (the fetus), both patients, and his mother and his second aunt (the pregnant woman), both carriers. Autopsy of the fetus showed epidermis dysplasia and deficiency of hair follicle and sebaceous gland. Immunohistochemistry showed that epithelial membrane antigen and cytokeratin were negatively expressed in the fetal skin tissues. CONCLUSION: Pedigree analysis and genetic counseling for the family members of EDA patients and prenatal and postpartum examination for the fetus help diagnose EDA.
Adult↗
Autosomal recessive ectodermal dysplasia.
Seven cases of a peculiar autosomal recessive ectodermal dysplasia as a distinct nosologic entity are presented. The main symptoms of this rare, not fully delineated syndrome, are hypohidrosis, xeroderma, hypotrichosis, dystrophy of the teeth, benign acanthosis nigricans, and furrowed tongue. Other symptoms can include mental retardation, nail dystrophy, disturbances of skin pigmentation (perioral and periorbital hyperpigmentation, vitiligo, and perinevic leukoderma), and palmoplantar keratosis.
Adolescent↗
Ectodermal dysplasia--an unusual dental presentation.
Ectodermal dysplasia (ED) is a rare group of disorders affecting the hair, teeth, nails and sweat glands to a variable degree. There is a wide range of clinical presentation of ED. Missing teeth or abnormal tooth form may be the first indicator of the presence of the disorder. There is typically hypodontia with microdontia. We present an unusual case of ED with severe hypodontia and macrodontia affecting all first permanent molar teeth. We also consider the classification and presentation of this disorder.
Anodontia↗
Prosthetic rehabilitation of individuals with ectodermal dysplasia.
Ectodermal dysplasia is a genetic disorder commonly affecting the development of teeth. The quality of life of the affected individuals can be improved by a multidisciplinary approach to the treatment plan. The treatment may include removable, fixed, implant-supported prostheses, or a combination of these options. This case report describes in detail the diagnosis and treatment of two such individuals using removable overdentures.
Adult↗
Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution.
EEM syndrome is a rare condition characterised by ectodermal dysplasia, ectrodactyly and macular dystrophy. Additional abnormalities such as alopecia, cataract, absent eyebrows, and oligodontia may occur. We report two brothers and a sister born to consanguineous parents with EEM syndrome. EEM syndrome differs from other ectrodactly syndromes by the characteristic findings in the ocular fundus showing extensive retinochoroidal atrophy with diffuse retinal pigmentation and mild arteriolar attenuation at the posterior pole. In contrast to other ectrodactyly syndromes autosomal recessive inheritance is most likely.
Adult↗
Parotid metastasis of Merkel cell carcinoma in a young patient with ectodermal dysplasia. Diagnosis by fine needle aspiration cytology and immunocytochemistry.
Fine needle aspiration (FNA) biopsy was performed on an intraparotid lymph node metastasis of a Merkel cell carcinoma of the eyelid in a 15-year-old girl with antecedent ectodermal dysplasia syndrome. The cytologic appearance of the aspirate and the results of immunocytochemical typing of intermediate filaments on the FNA smears provided a definitive diagnosis. The Romanowsky stain provided an excellent delineation of paranuclear intracytoplasmic "buttons," which appeared to contain both cytokeratin and neurofilaments by immunocytochemical studies. These findings confirm previous data emphasizing the role of light microscopic observations, supplemented by proper immunocytochemical investigations, in the differential diagnosis of metastatic Merkel cell carcinoma in fine needle aspirates.
Adolescent↗
[Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family].
OBJECTIVE: To analyze the mutations in Cx30 gene in a Chinese family with hidrotic ectodermal dysplasia (HED) and to make prenatal diagnosis on the embryo which has been pregnant for 5 months. METHODS: A family including 2 affected and 4 unaffected individuals was collected, and their informed consents were obtained. The affected woman had a five-month pregnancy. An 884 bp fragment containing the whole GJB6 coding sequence was amplified by PCR and the products were bi-direction sequenced directly. The mutation was further confirmed with restriction endoenzyme digesting. On the base of successful gene diagnosis, the following detection procedure on the pregnant baby was performed. First the whole coding region of Cx30 was amplified using primers Cx30-F and Cx30-R and the PCR products were digested by Hae II. Then the PCR products were cloned into pUCm-T vector. Blue-white blot screening method and PCR-restriction endoenzyme digesting technique were used to identify the correct clones. The mutant allele clone was sequenced to confirmed the mutation. RESULTS: A heterozygous missense mutation 263C --> T in the Cx30 gene was detected in the affected little girl and her affected mother, which led to an amino acid substitution (A88V) in the second transmembrane domain of GJB6. The mutation was confirmed by Hae II digestion. A88V mutant allele cannot be cut while the wild normal allele can be cut into two fragments, 520 and 278 bp. The result of analyse on the five-month pregnancy show the embryo carried the A88V mutation too. So the embryo will be a patient. CONCLUSION: An A88V missense mutation in the Cx30 gene can also cause HED in Chinese Han population. Based on the gene diagnosis, prenatal diagnosis can be played using bi-direction sequencing and confirmed with restriction endoenzyme digesting.
Adult↗
Ectodermal dysplasia. A seven-year case report.
This case report describes the manifestations of ectodermal dysplasia and tracks the seven-year management of a male ED patient. It demonstrates the benefits of early intervention, describes restorative and orthodontic treatment rendered, and a range of future treatment options available when early intervention is employed.
Child↗
[Multiple sebaceous gland hyperplasias in X chromosome hypohidrotic ectodermal dysplasia].
We report on a 46-year-old man with X-linked hypohidrotic ectodermal dysplasia, who presented with large skin areas covered with aggregated sebaceous gland papules on the face and neck. This is rare, but has been observed in very similar form in association with this disorder in a not insubstantial proportion of cases.
Biopsy↗
Congenital absence of all primary and permanent lateral incisors in a carrier of X-linked hypohidrotic ectodermal dysplasia.
A case report is presented of congenital absence of all primary and permanent lateral incisors in a female patient who was a carrier of X-linked hypohidrotic ectodermal dysplasia. Congenital absence of all lateral incisors is extremely rare.
Anodontia↗
[10-year review of prosthetic treatment of a case of hypohidrotic ectodermal dysplasia].
The prosthetic treatment made in case of ectodermal hipohidrotic dysplasia with partial anodontia is described. After ten years the case is reviewed, taking into account, principally, the esthetics parameters, function and survival of the remaining teeth. In all of them an excellent result is observed, and the improvement of the patient in the nutritional and psychical range is confirmed.
Adolescent↗
Contribution to the morphometry of limb bud structures in the normodactylous and polydactylous rat. I. Apical ectodermal ridge.
The height of the apical ectodermal ridge on limb buds of the embryo laboratory rat was studied in the polydactyly-luxate syndrome and compared with the controls. The following findings were obtained: (a) On the 14th embryonal day, prior to the development of the anlage of mesenchymal condensates, the AER is higher in polydactylous animals as compared with the controls. (b) On the 15th, 16th and 17th embryonal day the height of the AER in the praeaxial region of the polydactylous limb bud largely predominates over the controls. A comparison of the height of the AER above digital rays and interdigital grooves of polydactylous and normodactylous animals does not thus exhibit any marked differences. This fact is attributed to the existence of more powerful induction processes of the underlying mesenchymal component where rudiments of supernumerary digital rays are formed.
Animals↗