1/5. 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.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
2/5. A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia.X-linked hypohidrotic ectodermal dysplasia (XLHED; MIM 305100) is characterized by the absence or hypoplasia of hair, teeth, and sweat glands. The ED1 gene was identified as a responsive gene for XLHED. The patients were 2 Japanese brothers. Both had the same mutation in exon 1 of the ED1 gene, i.e. C deletion at nucleotide 49, which induced a frameshift starting from amino acid 17 and made a stop codon at amino acid 56, encoding the transmembrane site. The mutation caused the extracellular domain of ectodysplasin A to be completely absent. Their mother had a heterozygous allele; she congenitally lacked 1 tooth, and incisors appeared conical in form.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
3/5. A rare case of tooth-nail syndrome.The present work is a case report of a 11-year-old patient directed for consultations to Department of Paedodontics, Medical University of Lublin. The clinical examination ascertained numerous lacks of permanent teeth, there were only central incisors in maxilla and first molars in mandibula. With the exception of teeth 54, 55, 64, 74, 84, which were reincluded, the patient had remaining deciduous teeth. The radiographic examination confirmed large oligodontia within permanent teeth. hair, sweat glands, anterior chamber and bottom of the eye were correct. Little disturbances within nail plates of palm fingers were found. A gentle form of ectodermal dysplasia was recognized as a tooth-nail syndrome (Witkop's syndrome).- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
4/5. A novel 7-bp deletion mutation in a Taiwanese family with X-linked hypohidrotic ectodermal dysplasia.Hypohidrotic ectodermal dysplasia (HED) is found worldwide with an estimated incidence of 1 per 100,000 births. X-linked hypohidrotic ectodermal dysplasia (XLHED, OMIM 305100) is the most common form of the ectodermal dysplasias (ED), a rare group of hereditary diseases characterized by abnormal development of eccrine sweat glands, hair, and teeth. Heterozygous carriers of XLHED often manifest minor or moderate degrees of hypotrichosis, hypodontia, and hypohidrosis. ED1, the gene for XLHED encodes ectodysplasin A, which is a new member of the tumour necrosis factor family. The majority of mutations in XLHED are missense mutations, but one-fifth are insertion/deletions. Here we report a novel 7-bp deletion mutation (nt1242-1248) in exon 9 of the ED1 gene that results in a frameshift and premature stop codon (PTC 38 amino acids). Mutation analysis in families with XLHED allows for genetic counselling, prenatal diagnosis and confirmation of carrier status.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |
5/5. 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.- - - - - - - - - - ranking = 1keywords = gland (Clic here for more details about this article) |