Ectodermal Dysplasia: A Case Report.
Ontology highlight
ABSTRACT:
SUBMITTER: Alshegifi HA
PROVIDER: S-EPMC8759711 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:ABSTRACTA nine-year-old girl was presented to the dental clinic at King Abdulaziz Medical City in Jeddah with carious posterior primary teeth and discolored teeth. She was referred to a pediatric geneticist to rule out any medical conditions. She was suspected to have ectodermal dysplasia (ED). DNA testing was requested and sent to Germany to confirm the clinical findings. Afterward, full-mouth rehabilitation was done including prophy and fluoride application, composite restorations, stainless steel crowns, and pulp therapy. The treatment was planned to be carried out under local anesthesia due to the cooperative behavior of the child and the parents’ request. Treatment objectives were oriented to achieve esthetic and functional rehabilitation of all carious teeth, maintain occlusion, in addition to maintaining spaces for the missing permanent teeth for future replacement. The patient became caries-free. Oral hygiene was improved which resulted in gingival inflammation resolution. Spaces were maintained and the behavior of the child was improved during recall visits from positive to definitely positive. Multidisciplinary approach in the management of oral and dental manifestations associated with ED including pediatric dentists, prosthodontists, and orthodontists is of paramount importance.How to cite this articleGholman RR, Kassar WM, et al. Dental Rehabilitation of a Child with Ectodermal Dysplasia: A Case Report. Int J Clin Pediatr Dent 2019;12(4):362–365.
| S-EPMC6898874 | biostudies-literature
Project description:INTRODUCTION: Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome and holoprosencephaly is very rare. Here we report holoprosencephaly in an Egyptian infant with ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome. CASE PRESENTATION: An 11-month-old Egyptian female baby was referred to our institution for an evaluation of poor growth; the pregnancy and perinatal history were uneventful. On examination, her growth parameters were below the third centile, she had bilateral ectrodactyly of both hands and feet, dry rough skin, sparse hair of the scalp and operated right cleft lip and cleft palate. Computerized tomography of her brain revealed holoprosencephaly. CONCLUSION: The importance of the early diagnosis of this syndrome should be emphasized in order to implement a multidisciplinary approach for proper management of such cases.
| S-EPMC3281777 | biostudies-literature
Project description:Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders - hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100) occurs in 1 out of 5000-10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia - XLHED) [2]. The main cause of XLHED is a broad range of pathogenic variants in the EDA gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]. We report here the case of a patient with a novel inherited allelic variant in the EDA gene - NM_001399.5:c.337C>T (p.Gln113*) - in the heterozygous state. Targeted family member screening was conducted and other carriers of this EDA gene pathogenic variant were identified and phenotypically characterised. The patient subsequently underwent in vitro fertilisation with preimplantation genetic testing for monogenic diseases (PGT-M).
| S-EPMC8453221 | biostudies-literature
Project description:This paper describes odontomicronychial dysplasia, a pure ectodermal dysplasia of the 2-3 subgroup of group A. It is characterised by precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. This condition probably results from an autosomal recessive gene.
| S-EPMC1051874 | biostudies-other
Project description:Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear factor kappa beta essential modulator. We identified a novel IKBKG variant in a 7-month-old boy with pneumococcal rib osteomyelitis and later found that his mother has incontinentia pigmenti. Genetic analysis of preserved umbilical cords revealed the same variant in two of his deceased maternal uncles. Analysis of preserved umbilical cord tissue from deceased relatives can provide important information for diagnosing IEI in their descendants.
| S-EPMC8727435 | biostudies-literature
Project description:INTRODUCTION:An analysis was made of three different syndromes associated with p63 gene mutations, known as ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), ankyloblepharon-ectodermal dysplasia clefting syndrome (AEC or Hay-Wells) and Rapp-Hodgkin syndrome (RHS). The postoperative complications associated with their cleft reconstructions were also evaluated. MATERIALS AND METHODS:Extensive demographic information, in particular of the clinical appearances, associated malformations, and the types and complications of the reconstructive surgical procedures, were recorded of these syndromic cases occurring in a database of 3621 facial cleft deformity patients. The data was analyzed using the Microsoft Excel program. RESULTS:A total of 10 (0.28%) cases of p63 associated syndromes were recorded: EEC (6), RHS (3), and AEC (1). The following clinical cleft appearances were noted - EEC = 6: CLA 1 -right side unilateral (female); CLAP 4 - right side (1) + left side (1) unilateral (male + female); bilateral (2) (males); hPsP 1 (female) (divided in 3 Black, 2 White, 1 Indian); RHS = 3: CLAP 2 (White males); hPsP 1 (White female); AEC = 1: CLAP bilateral (White male). Other features of the syndromes were: skin, hand, foot, tooth, hair and nail involvement, and light sensitivity. Postoperative complications included: (i) stenosis of nasal opening, especially after reconstruction of the bilateral cleft lip and the columella lengthening (2 cases), (ii) premaxilla-prolabium fusion (2 cases), (iii) repeated occurrence of oro-nasal fistula in the hard palate (4 cases), and (iv) dysgnathial development of midfacial structures (3 cases). DISCUSSION:Three different p63 associated syndromes (EEC, AEC, and RHS) were diagnosed (0.27% of the total facial cleft deformities database). The majority of the cases presented with a bilateral CLAP in males only. A number of females and males had unilateral CLA. The hPsP-cleft was recorded in females only. The associated ectodermal component most probably had a profoundly negative influence on postoperatively wound healing, which was observed in particular at the nasal openings, the premaxilla sulcus and in the hard palate mucosa. The reconstruction of p63 associated syndromes is a greater challenge than the usual cleft reconstruction to the surgeon.
| S-EPMC3645613 | biostudies-literature
Project description:Ghosal hematodiaphyseal dysplasia (GHDD) is a rare autosomal recessive disorder presenting with steroid-responsive anemia and diaphyseal dysplasia of long bones. We report a 3-year-old Iranian girl with refractory anemia, splenomegaly and radiologic signs of metadiaphyseal dysplasia in long bones. The diagnosis was established by clinical presentation and X-ray bone survey. The patient was treated with oral prednisolone therapy with considerable improvement in anemia and splenomegaly.
| S-EPMC7231795 | biostudies-literature
Project description:Ectodermal dysplasia-syndactyly syndrome 1 (EDSS1) is characterized by cutaneous syndactyly of the toes and fingers and abnormalities of the hair and teeth, variably associated with nail dystrophy and palmoplantar keratoderma (PPK). EDSS1 is caused by biallelic mutations in the NECTIN4 gene, encoding the adherens junction component nectin-4. Nine EDSS1 cases have been described to date. We report a 5.5-year-old female child affected with EDSS1 due to the novel homozygous frameshift mutation c.1150delC (p.Gln384ArgfsTer7) in the NECTIN4 gene. The patient presents brittle scalp hair, sparse eyebrows and eyelashes, widely spaced conical teeth and dental agenesis, as well as toenail dystrophy and mild PPK. She has minimal proximal syndactyly limited to toes 2-3, which makes the phenotype of our patient peculiar as the overt involvement of both fingers and toes is typical of EDSS1. All previously described mutations are located in the nectin-4 extracellular portion, whereas p.Gln384ArgfsTer7 occurs within the cytoplasmic domain of the protein. This mutation is predicted to affect the interaction with afadin, suggesting that impaired afadin activation is sufficient to determine EDSS1. Our case, which represents the first report of a NECTIN4 mutation with toe-only minimal syndactyly, expands the phenotypic and molecular spectrum of EDSS1.
| S-EPMC8156511 | biostudies-literature
Project description:Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene. The aim of this case report was to describe a family with XLHED with emphasis on differences in orofacial features between members. Family members were systematically evaluated to characterize the pattern of inheritance and clinical features. Dental examination included evaluation of agenesis and abnormal teeth structure. The pedigree of the last seven generations of the family was constructed. Clinical examination and medical history revealed five males affected by HED and nine female as heterozygous carriers. The males exhibited the classic phenotype of XLHED, with dental abnormalities, hypohydrosis, and craniofacial dysmorphologies. The heterozygous carriers of the X-linked gene defect principally exhibited dental agenesis of the lateral maxillary incisors. Careful clinical examination, including dental evaluation, is an important way to detect heterozygous carriers of X-linked HED. Heterozygous parents of patients with HED may also show some features of the disorder. The identification of female carriers results in genetic counseling being offered to affected families, as well as providing adequate treatment as necessary and long-term follow-up of these patients.
| S-EPMC3500897 | biostudies-literature
Project description:Anhidrotic ectodermal dysplasia (AED) is a rare hereditary disorder with a triad of sparse hair, dental hypoplasia, and anhidrosis. Here we report a case of AED with food allergy and atopic eczema. The patient was a 11-month-old boy admitted to our hospital with pyrexia for 2 weeks. He presented with a history of dry skin, eczema, and food allergy to egg. On clinical examination, his body temperature was 38.8°C, with dry skin and eczema almost all over the body, sparse eyebrows, and scalp hair. Laboratory investigations and physical examination did not show any evidence of infection. Radioallergosorbent test was positive to egg yolk, egg white, ovomucoid, milk, house dust, and house dust mite. As the child did not sweat despite the high fever, we performed the sweat test which revealed a total lack of sweat glands. Genetic examination revealed a mutation of the EDA gene and he was diagnosed as AED. His pyrexia improved upon cooling with ice and fan. His mother had lost 8 teeth and her sweat test demonstrated low sweating, suggestive of her being a carrier of AED. Atopy and immune deficiencies have been shown to have a higher prevalence in patients with AED. Disruption of the skin barrier in patients with AED make them more prone to allergic diseases such as atopic eczema, bronchial asthma, allergic rhinitis and food allergy. Careful assessment of the familial history is essential to differentiate AED when examining patients with pyrexia of unknown origin and comorbid allergic diseases.
| S-EPMC6365661 | biostudies-literature