Cases reported "Mouth Abnormalities"

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1/7. Salivary gland aplasia with cleft lip and palate: a case report and review of the literature.

    We report the case of a patient with lifelong symptoms of xerostomia and a repaired bilateral cleft lip and palate. The clinical evaluation demonstrated aplasia of the major salivary glands. A review of the literature pertaining to salivary gland aplasia is presented, along with a summary of the data regarding patient gender, defect sites, hereditary background, and combined manifestations. The diagnostic methods, possible pathogenesis, and management are also discussed.
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2/7. Double tongue, intraoral anomalies, and cleft palate--case reports and a discussion of developmental pathology.

    OBJECTIVE: Isolated cleft palate is the most common presentation of the nonsyndromic cleft lip/palate combinations and is multifactorial in etiology. We report two cases of children with clefts of the secondary palate coexistent with double tongue and in either case mandibular epulis or superiorly displaced salivary gland. RESULTS AND DISCUSSION: In each case, the palatal cleft correlated anatomically with the intraoral space-occupying lesion. The ratio of tongue volume to intraoral volume during palatogenesis is discussed with reference to the pathogenesis of cleft palate. These clinical cases propose the model of a unifying sequence of developmental events whereby deformation of palatal shelf elevation results in secondary palatal clefting.
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3/7. Cowden disease.

    Cowden disease represents an unusual, but unique syndrome which can be recognized most consistently by the development of characteristic verrucous, keratotic, papular, and nodular lesions about facial orifices, on the oral mucosa, and over the dorsal surfaces of the forearms and hands. The cause of these diverse hyperplastic changes is not known. Recognition of these lesions as signs of more extensive disease should alert the physician to examine the thyroid gland, breasts, female reproductive tract, GI tract, and skeleton for evidence of the associated changes we have enumerated. Because of the tendency for lesions of the thyroid, breast, and intestines to undergo malignant change, these patients require close observation and evaluation.
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4/7. Aplasia of the parotid gland in down syndrome.

    Salivary gland aplasia has not to our knowledge been previously reported in association with down syndrome. We present a case of bilateral parotid aplasia in a patient with down syndrome. Clinically he had aplasia of the major salivary glands and symptoms of xerostomia. Thirteen other family members over three generations were examined, and all had functional parotid glands. We reviewed publications about down syndrome and salivary aplasia, together with the data regarding his other clinical problems and family background. His oral problems were inadequate plaque control, dental caries, and erosion of the teeth.
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5/7. An unusual pattern of dental damage with salivary gland aplasia.

    BACKGROUND: Dental destruction can develop from numerous causes. Major salivary gland aplasia is an uncommon causative factor. The resulting xerostomia can lead to extensive dental demineralization. CASE DESCRIPTION: The author examined a 19-year-old man because of the patient's concern regarding decreased salivary volume and his dental condition. There was extensive loss of tooth structure and an astonishing pattern of dental destruction most notable on the palatal portions of the maxillary molars and premolars that is best described as "chipping." It was only after taking the patient's history, clinically examining the patient and conducting a radioisotope study that the author was able to make a confident diagnosis of the absence of four major salivary glands. CLINICAL IMPLICATIONS: dentists should be aware that salivary gland aplasia is an uncommon cause of dental deterioration. It may manifest itself not by extensive caries but by a dental chipping effect. Early recognition and a therapeutic strategy can prevent progressive dental damage.
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6/7. Oropharyngeal hairy polyp with meningothelial elements.

    The so-called hairy or teratoid polyp is a rare lesion of bigerminal origin that comprises elements derived from both ectodermal and mesodermal cell lines. In this article we report the presence of meningothelial elements in a hairy polyp, a previously undescribed component of this entity. The lesion was characterized by a pedunculated outgrowth from the hard palate. The surface of the outgrowth was covered by squamous epithelium and a central core of fibroadipose tissue, pilosebaceous glands, cleftlike pseudovascular spaces, and groups of epithelioid cells. These reticulated and cellular foci had the immunohistochemical and ultrastructural features of meningothelial tissue.
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7/7. Absent pituitary gland in two brothers with an oral-facial-digital syndrome resembling OFDS II and VI: a new type of OFDS?

    The oral-facial-digital syndromes (OFDS) comprise a group of heterogeneous genetic disorders. Considerable clinical overlap exists within the nine described types [Toriello, Clin Dysmorph 2:95-105, 1993], and with other entities such as Pallister-Hall (PH) syndrome and hydrolethalus syndrome, leading to difficulties in the classification of OFDS. We report on two brothers with findings overlapping OFDS II, VI, and pallister-hall syndrome who had congenital absence of the pituitary gland. This may represent a new type of OFDS or, alternatively, an example of phenotypic variability within the OFDS. It also emphasizes that agenesis of the pituitary gland can occur in a variety of syndromes with midline defects.
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