Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019829 (Hodgkin's disease)
 30,247 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Several clinical syndromes are characterized by ectodermal dysplasia (ED) in association with clefting of the lip and/or palate. The three most commonly recognized entities are (1) the EEC syndrome (ectodermal dysplasia, ectrodactyly, cleft lip/palate); (2) the Rapp-Hodgkin syndrome with ectodermal dysplasia, cleft lip/palate, and mid facial hypoplasia; and (3) the Hay-Wells or AEC syndrome (ankyloblepharon, ectodermal defects, cleft lip/palate). The clinical characteristics of these entities as well as several less common syndromes are reviewed and summarized. The presence of scalp dermatitis in patients with the AEC syndrome and less often the Rapp-Hodgkin syndrome is emphasized.
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PMID:Ectodermal dysplasias associated with clefting: significance of scalp dermatitis. 834 78

Rapp-Hodgkin syndrome is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. We describe a 24-year-old white woman who has Rapp-Hodgkin syndrome that is associated with a chronic palmar keratoderma, which is a finding that has not been previously reported. We review the literature, assign the clinical features into major and minor categories, and suggest therapeutic interventions to limit the significant sequelae of this autosomal dominant syndrome.
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PMID:Rapp-Hodgkin ectodermal dysplasia. 151 97

Four members in three generations of a family had Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome with variable involvement of teeth, hair, nails and palate, characteristic facies and mild heat tolerance problems. In addition, the proband had a high sweat sodium, hypogenitalism, hypothelia and marked cicatricial scalp atrophy and scarring. Inheritance of the condition was consistent with an autosomal dominant mode and the manifestations are described to delineate further this rare phenotype.
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PMID:Rapp-Hodgkin hypohidrotic ectodermal dysplasia syndrome. 201 92

A rare case of ectodermal dysplasia--the Rapp-Hodgkin syndrome--is presented. Its diagnosis is discussed and the importance of a multidisciplinary management and genetic counselling outlined.
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PMID:Rapp-Hodgkin ectodermal dysplasia. 185 72

We report on a Brazilian family with 11 affected patients through 4 generations presenting the Rapp-Hodgkin syndrome. The main clinical findings in different patients ranged from isolated trichodysplasia (sparse, brittle, and dry hair) to ectodermal dysplasia (1-2-3-4), cleft palate, tear duct anomaly, and minor limb anomalies. Clinical and genetic aspects concerning this condition are discussed.
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PMID:Rapp-Hodgkin syndrome: report of a Brazilian family. 238 4

Rapp-Hodgkin syndrome is a rare form of ectodermal dysplasia involving the hair, eyes, sweat glands, nails, teeth, and palate. The case of a white girl with the condition is presented. The differential diagnosis is discussed, and the eight previously reported cases are reviewed. Another (ninth) previously reported case is considered for inclusion in the group.
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PMID:Rapp-Hodgkin syndrome: an ectodermal dysplasia involving the teeth, hair, nails, and palate. Report of a case and review of the literature. 264 72

We have reported on six personally examined patients with Rapp Hodgkin syndrome and four additional family members with documentation suggesting strongly that they also were affected with the disorder. Clinical manifestations observed in our patients include cleft lip/palate/uvula, ectodermal dysplasia, and hypospadias in males. The ectodermal dysplasia manifests through uncombable, sparse, wiry hair; alopecia in adulthood; hypodontia; hypohidrosis; and dysplastic nails. In addition, ptosis, atretric ear canals, and dysplastic eustachian orifices are suggested as other manifestations of the disorder.
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PMID:Rapp-Hodgkin syndrome: observations on ten cases and characteristic hair changes (pili canaliculi). 317 24

Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant condition characterized by distinctive craniofacies, cleft lip or palate, dental hypoplasia with caries, dystrophic nails, and decreased to absent sweat glands and hair follicles. We report the third family to be described, and distinguish the condition from similar syndromes.
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PMID:Rapp-Hodgkin ectodermal dysplasia. 379 88

An 8-year-old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp-Hodgkin's ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family.
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PMID:Distinctive hair changes (pili torti) in Rapp-Hodgkin ectodermal dysplasia syndrome. 711 74

Breathy vocal quality was verified in five of nine patients with the ectrodactyly--ectodermal dysplasia--cleft palate syndrome, nine of 15 patients with either suspected or confirmed anhidrotic ectodermal dysplasia (one case of partial expression), and one of two siblings with the Rapp-Hodgkin form of ectodermal dysplasia. Indirect laryngoscopy in eight of the breathy patients failed to show phonatory glottal chinks or any overt laryngeal pathologic conditions, but it did indicate absence of a normal mucosal covering of the folds. Limited spectrographic studies disclosed widely spaced voicing striations and also suggested prolonged voice onset times. Patients who exhibit breathy vocal quality in the presence of one of these ectodermal dysplasias should be counseled with regard to the advisability of longitudinal care and the avoidance of habitual use of increased vocal effort level.
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PMID:Abnormal laryngeal vocal quality in ectodermal dysplasia. 722 50


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