1/22. A Rapp-Hodgkin like syndrome in three sibs: clinical, dental and dermatoglyphic study.Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant disorder characterized by distinctive craniofacies, cleft lip or palate, oligodontia or anodontia, hypoplasia of the nails, and a decrease in or absence of the sweat glands and hair follicles. We have identified a family in which three children display clinical features similar to Rapp-Hodgkin syndrome. The father and two other sisters of the patient had normal facial features, but had short stature and had dental anomalies, the latter suggestive of ectodermal dysplasia. The overall clinical, dental, and dermatoglyphic findings of these patients are discussed in relation to reports of families with Rapp-Hodgkin syndrome.- - - - - - - - - - ranking = 1keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
2/22. 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.- - - - - - - - - - ranking = 2keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
3/22. keratitis, ichthyosis, and deafness (KID) syndrome.An 8-year-old boy with keratitis, ichthyosis, and deafness (KID) syndrome is reported. The patient has ichthyosis and deafness. Additional clinical features include hair and tooth abnormalities, as well as absence of the mammary glands. Although keratitis is an important element in the triad of KID syndrome, this patient has another ophthalmologic defect, a developmental anomaly of the lacrimal puncta, characterized by their complete absence. The case appears to be unique in the literature in that, to my knowledge, this particular ocular anomaly has not been described previously.- - - - - - - - - - ranking = 0.0027722915572682keywords = gland (Clic here for more details about this article) |
4/22. 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 = sweat gland, sweat, gland (Clic here for more details about this article) |
5/22. Lacrimo-auriculo-dento-digital syndrome. Case report, review of the literature, and clinical spectrum.Lacrimo-auriculo-dento-digital (LADD) syndrome, also known as Levy-Hollister syndrome, is characterized by pronounced dysplasias in various organ systems. The resulting disturbances affect primarily the lacrimal glands, the inner and outer ear, the salivary glands, and the osseous framework. Although the degree to which the different organs are involved varies considerably, dental anomalies are regularly reported. An autosomal-dominant trait has been recognized for this syndrome, but the majority of cases described in the literature concerned sporadic new mutations. We report on this unusual and relatively unknown syndrome with reference to a 13-year-old girl suffering from LADD syndrome presenting symptoms of severe xerostomia and various craniofacial malformations, hearing loss, enamel dysplasia, microdontia, and hypodontia.- - - - - - - - - - ranking = 0.0055445831145365keywords = gland (Clic here for more details about this article) |
6/22. CT findings of head and neck anomalies in lacrimo-auriculo-dento-digital (LADD) syndrome.We present computed tomography (CT) findings of a boy with lacrimo-auriculo-dento-digital (LADD) syndrome. Bilateral lacrimal glands were not detected and CT imaging of this abnormality in LADD syndrome has not been reported before. Despite suggestions from previous reports of multiple temporal bone abnormalities resulting in hearing losses in these patients, only minor temporal bone abnormalities were seen in our deaf-mute patient. Dysplasia of salivary glands was noted. CT findings of head and neck abnormalities in LADD syndrome are discussed.- - - - - - - - - - ranking = 0.0055445831145365keywords = gland (Clic here for more details about this article) |
7/22. Acro-dermato-ungual-lacrimal-tooth (adult) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63.We report on a new patient with clinical findings consistent with acro-dermato-ungual-lacrimal-tooth (adult) syndrome. The child had sparse hair, extensive freckling, lacrimal duct stenosis, oligodontia, dystrophic nails, reduced sweating, and bilateral athelia. Examination of his hands showed ulnar ray hypoplasia with bilateral fifth finger brachydactyly and camptodactyly. He also had surgical repair of an imperforate anus. mutation analysis of TP63 showed a single nucleotide substitution, c.G518A, predicting a novel missense mutation, p.V114M in exon 4. This is the third mutation to be reported in TP63 in adult syndrome.- - - - - - - - - - ranking = 0.11869115024493keywords = sweat (Clic here for more details about this article) |
8/22. ectodermal dysplasia--an unusual dental presentation.ectodermal dysplasia (ED) is a rare group of disorders affecting the hair, teeth, nails and sweat glands to a variable degree. There is a wide range of clinical presentation of ED. Missing teeth or abnormal tooth form may be the first indicator of the presence of the disorder. There is typically hypodontia with microdontia. We present an unusual case of ED with severe hypodontia and macrodontia affecting all first permanent molar teeth. We also consider the classification and presentation of this disorder.- - - - - - - - - - ranking = 1keywords = sweat gland, sweat, gland (Clic here for more details about this article) |
9/22. Characteristics of lacrimo-auriculo-dento-digital (LADD) syndrome: case report of a family and literature review.We describe a family with lacrimo-auriculo-dento-digital syndrome (LADD). A 13-year-old boy had cup-shaped ears, deafness, unilateral choanal atresia, bilateral nasolacrimal duct obstruction, xerostomia, alacrima due to congenital absence of lacrimal glands, agenesis of salivary glands, chronic dacryocystitis, keratoconjunctivitis sicca, ptosis, nail dysplasia of the thumb, shortness of fifth toe, temporal bone abnormality and epilepsy. His younger sister had shortened middle phalanx of fifth digits. His middle sister had hypodontia, shortened distal phalanx of fifth digit, agenesis of salivary glands, mild hearing loss and exotropia. His older sister had left nasolacrimal duct obstruction and aplasia of both parotid glands. The oldest sister had hypodontia and divergent excess exotropia. His mother had hypodontia. These findings are consistent with LADD syndrome. An autosomal dominant pattern of inheritance with variable expressivity has been demonstrated. Renal and uro-genital anomalies have been noted variably.- - - - - - - - - - ranking = 0.011089166229073keywords = gland (Clic here for more details about this article) |
10/22. Delineation of the adult syndrome phenotype due to arginine 298 mutations of the p63 gene.The adult syndrome (Acro-Dermato-Ungual-Lacrimal-Tooth, OMIM 103285) is a rare ectodermal dysplasia associated with limb malformations and caused by heterozygous mutations in p63. adult syndrome has clinical overlap with other p63 mutation syndromes, such as EEC (OMIM 604292), LMS (OMIM 603543), AEC (106260), RHS (129400) and SHFM4 (605289). adult syndrome characteristics are ectrodactyly, ectodermal dysplasia, mammary gland hypoplasia and normal lip and palate. The latter findings allow differentiation from EEC syndrome. LMS differs by milder ectodermal involvement. Here, we report three new unrelated adult syndrome families, all with mutations of arginine 298. On basis of 16 patients in five families with R298 mutation, we delineate the adult syndrome phenotype. In addition, we have documented a gain-of-function effect on the dNp63gamma isoform caused by this mutation. We discuss the possible relevance of oral squamous cell carcinoma in one patient, who carries this p63 germline mutation.- - - - - - - - - - ranking = 0.0027722915572682keywords = gland (Clic here for more details about this article) |
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