Cases reported "Ectodermal Dysplasia"

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1/28. Hereditary hypodontia and onychorrhexis of the fingernails and toenail koilonychia: Witkop's tooth-and nail syndrome.

    The tooth-and-nail syndrome (Witkop's syndrome) is a rare autosomal dominant ectodermal dysplasia manifest by defects of the nail plates of the fingers and toes and hypodontia with normal hair and sweat gland function. We report a thirteen year-old girl who presented with marked longitudinal ridging of the nail plates of all ten fingers. The toenails were mildly ridged with koilonychia. Her mother's fingers were similarly affected to a lesser degree while her toenails appeared normal. Examination of the child's dentition revealed a hyperplastic frenulum and the absence of one of the usual four mandibular incisors. history provided by the mother described the maternal grandmother and maternal great aunt as having identical nail findings and the presence of only three lower incisors. hair examination was normal in the mother and child, and no history or findings of sweat gland dysfunction was present. This report describes familial hypodontia, fingernail onychorrhexis, and toenail koilonychia consistent with Witkop's syndrome.
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2/28. Witkop tooth and nail syndrome: report of two cases in a family.

    tooth and nail syndrome, an autosomal dominant condition, is characterized by hypodontia and nail dysplasia. Mandibular incisors, second molars and maxillary canines are the most frequently missing teeth. tooth shape may vary and conical and narrow crowns are common. Nail dysplasia affects fingernails and toenails and is often more severe in childhood. nails may be spoon-shaped, ridged, slow growing and easily broken. The clinical and radiographic features of a father and son presenting with this rare condition are described.
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3/28. Unusual impaction of inverted primary incisor: report of case.

    A tooth that fails to erupt into a normal functional position by the time it normally should is considered impacted. Impactions of primary teeth are extremely rare, but when it does occur it usually involves the first and second molar. The purpose of this article is to present a case of a four-year-old patient with an impaction of an inverted primary mandibular incisor. On the basis of the patient's family history, the case might be considered as microform of ectodermal dysplasia.
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4/28. Recurrent fever and lack of tooth buds. a case of ectodermal dysplasia in a 9 months old boy.

    We present the case of a 9 months old boy with an X-linked form of anhidrotic (hypohidrotic) ectodermal dysplasia. Several chest x-rays had been performed to rule out pneumonia because of recurrent episodes of high fever. The child's lack of tooth buds (hypodontia), which could be encountered on the margins of the chest x-rays, are suggestive for ectodermal dysplasia.
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5/28. Prosthetic habilitation of a young patient with hypohidrotic ectodermal dysplasia and oligodontia: a case report of 20 years of treatment.

    PURPOSE: The aim of this article is to describe the oral habilitation, over a period of 20 years, of a young patient with hypohidrotic ectodermal dysplasia and agenesis of 15 permanent teeth. MATERIALS AND methods: Different clinical interventions were adapted to suit the patient's dental and psychologic stage of development. The prosthodontic treatment, which took place at different ages, comprised several treatment modalities: composite-retained onlay fixed partial dentures, a removable partial denture, tooth-supported and implant-supported fixed partial dentures, and laminate crown therapy. RESULTS: The different phases of treatment were successful, and the patient is satisfied from a functional as well as a psychosocial point of view. CONCLUSION: Extensive prosthodontic treatment in growing individuals should preferably be performed with a multidisciplinary team approach. In treatment that is planned and performed over long periods, this approach has the advantages of continuity and shared responsibility for therapy decisions.
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6/28. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.

    EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit craniofacial abnormalities, limb truncations, and absence of epidermal appendages, such as hair follicles and tooth primordia. In this study, we screened 39 syndromic patients, including four with EEC syndrome, five with syndromes closely related to EEC syndrome, and 30 with other syndromic orofacial clefts and/or limb anomalies. We identified heterozygous p63 mutations in three unrelated cases of EEC syndrome, two iowa white families and one sporadic case in a Filipino boy. One family is atypical for EEC and has features consistent with Hay-Wells syndrome. In this family, the mutation ablates a splice acceptor site and, in the other two, mutations produce amino acid substitutions, R280C and R304Q, which alter conserved dna binding sites. Germline mosaicism was detected in the founder of the mutation in one case. These three cases show significant interfamilial and intrafamilial variability in expressivity. We also screened p63 in 62 patients with non-syndromic orofacial clefts, identifying an intronic single nucleotide polymorphism but finding no evidence of mutations that would explain even a subset of non-syndromic orofacial clefts. This study supports a common role for p63 in classical EEC syndrome, both familial and sporadic, but not in other related or non-syndromic forms of orofacial clefts.
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7/28. ectodermal dysplasia with total anodontia: rehabilitation of a seven year old child.

    Total anodontia in a paediatric patient is a difficult prosthetic problem. Upper and lower complete dentures were fabricated for a 7 year old patient with anodontia. The problems encountered on account of the age of the child, the absence of alveolar processes, the tooth size and acceptability of the dentures are discussed herein.
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8/28. 18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family.

    The 18q- syndrome [MIM #601808] is a terminal deletion of the long arm of chromosome 18. The most common deletion extends from region q21 to qter. We report here a nine-year-old boy possessing a simple 18q- deletion who had abnormalities of the brain, skull, face, tooth, hair, bone, and skin, plus joint laxity, tongue palsy, subtle sensoneural deafness, mental and speech delay, attention deficit hyperactivity disorder (ADHD), tic, and restless legs syndromes. His karyotype was 46, XY, del (18)(q21.31-qter). The size of the deletion was approximately 45 cM. Most of these abnormalities were not explained by the 18q- deletion. The family pedigree suggested the presence of a subtle involvement of ectodermal and/or mesodermal structures. Karyotypes of the other family members were normal.
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9/28. 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.
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10/28. 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.
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