Cases reported "Ectodermal Dysplasia"

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1/36. 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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2/36. anodontia with hypohidrotic ectodermal dysplasia in a young female: a case report.

    A five-year-old Japanese girl was referred to our clinic for non-eruption of the teeth. Panoramic radiographs revealed absence of all teeth of both primary and permanent dentitions. She showed hypotricosis, hypohidrosis, and anodontia. In this article, the reported cases of anodontia were reviewed and the fabricating procedure of full dentures for a young child was described.
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3/36. 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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4/36. 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.
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5/36. 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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6/36. Hypohidrotic ectodermal dysplasia: dental, clinical, genetic and dermatoglyphic findings of three cases.

    patients with hypohidrotic ectodermal dysplasia (HED) are characterized by the clinical manifestations of hypodontia, hypohidrosis, hypotrichosis and a highly characteristic facial physiognomy. This disorder is inherited as an X-linked trait. This report presents three cases with HED in which the clinical evaluation (intraoral and radiological), genetic findings and SEM examination of hair. Boys 6 to 14 year old and a 11 year old girl were referred to the Marmara University, faculty of Dentistry, complaining of oligodontia in the maxillary and mandibular arches and delay in eruption of other teeth. Peg-shaped teeth have been observed. The dermatoglyphs of the patients were striking. SEM examination of hair demonstrated a distinctly abnormal longitudinal grooving along the entire length of each hair and a desquamation of the surface cuticles. The treatment was planned in a multidisciplinary odontological group involving pediatric dentistry, orthodontics, prosthodontics and oral surgery and maxillofacial radiology of future dental habilitation. A specially designed overdenture, a removable prosthesis and osseointegrated implants were constructed. Periodic recall visits were advised, to monitor the dentures and implants during periods of growth and development, and eruption of the permanent teeth.
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7/36. 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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8/36. osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.

    A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a second boy with this novel syndrome and his mother, who presented with signs of incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory complications, unilateral lymphedema of the left leg, and characteristic features of anhidrotic ectodermal dysplasia with sparse hair, facial dysmorphy, delayed eruption of teeth, and sweat gland abnormalities. He died at 18 months of severe immunodeficiency with multiple infections caused by Gram-negative (salmonella enteritidis) and Gram-positive (streptococcus pneumoniae) bacteria, nontuberculous mycobacteria (mycobacterium kansasii), and fungi (pneumocystis carinii). His 30-year-old mother's medical history, together with residual cutaneous lesions, was highly suggestive of IP without neurologic impairment. In this patient with OL-EDA-ID, we detected the same NF-kappaB essential modulator stop codon hypomorphic mutation identified in the previous patient. The occurrence of the same clinical features in 2 unrelated patients with the same genotype demonstrates that OL-EDA-ID is a genuine clinical syndrome. The clinical and biological descriptions of the proband and his mother further corroborate the relationship between IP and EDA. Both syndromes are allelic and are associated with mutations in NF-kappaB essential modulator, with a genotype-phenotype correlation in hemizygous males. In contrast, loss-of-function mutations and hypomorphic mutations may cause IP in females.
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9/36. 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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10/36. 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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