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PubMed1975

Amyloidosis: a rational approach to diagnosis by intraoral biopsy.

Amyloidosis and its oral manifestations are briefly described. The techniques for antemortem tissue diagnosis of amyloidosis are reviewed and evaluated. In screening for amyloidosis, biopsy of specific oral lesions (when present) is recommended instead of the traditional biopsy of normal-appearing gingiva. This approach is illustrated with four cases. Although rectal biopsy is generally accepted as the screening technique of choice, it is suggested that intraoral biopsy be considered as an easier, safer, more comfortable, and possibly more fruitful technique. It is advocated that in cases of both documented and suspected amyloidosis both intraoral and rectal biopsies should be performed in order to help provide documentation of the most useful technique for routine screening.

Aged↗
PubMed1985

Amyloidosis with oral involvement.

Amyloidosis is a disease complex in which amyloid fibrils, formed from various serum proteins, may be deposited in a local or systemic distribution. When this deposition affects vital organs the disease usually is fatal because there is no effective treatment. This paper reports a case of amyloidosis with oral involvement and discusses recent advances concerning the properties of amyloid fibrils and the various pathogenic mechanisms responsible for their formation.

Aged↗
PubMed1993

Acute enlargement of the tongue.

Acute enlargement of the tongue can present as an emergency. The problems of management in the acute situation and the diagnosis of the underlying condition are discussed and illustrated with reference to four unusual cases. There is a case for a simple classification and such a classification is presented.

Abscess↗
PubMed1978

Plasma somatomedin activity in an infant with Beckwith Wiedemann syndrome.

Plasma growth hormone levels and somatomedin activity were determined in a child with Beckwith--Wiedemann syndrome at birth and at 8 mth of age. Birthweight and length were above the 97th centile. Somatomedin activity in the cord plasma was elevated (2.8 U/ml) compared with controls (0.15--1.3 U/ml; n = 15). Growth hormone was also high (76 ng/ml compared with control group range of 5.5--42.1 ng/ml, n = 26). At 8 mth of age both somatomedin activity and plasma growth hormone had fallen to normal levels and weight and length were on the 75th centile. It is suggested that the high somatomedin activity may have been a contributing factor in the excessive fetal growth of this child.

Age Factors↗
PubMed2006

Dermoid cyst of the tongue: an association of dermoid cyst with bronchogenic epithelium.

A congenital dermoid together with a bronchogenic cyst of the tongue is extremely rare. The diagnosis made in this case of a 1-year-old boy was "teratoid cyst of the tongue". A surgical exploration was performed under general anaesthesia via a midline sagittal glossotomy. The tumour was completely dissected and excised, the microscopical examination of the surgical specimen revealed multiple cystic cavities lined by a keratinized squamous epithelium with skin appendages and fatty tissue. Others were composed of cylindrical, ciliated epithelial cells of respiratory type. This is the third reported case in the world literature. All cases were reviewed and compared with this case.

Bronchogenic Cyst↗
PubMed2006

Benign symmetric lipomatosis of the tongue in Madelung's disease.

INTRODUCTION: Madelung's disease is characterized by benign, non-encapsulated accumulations of fat in a symmetrical manner. Although rare, symmetrical lipomatosis involving the tongue exclusively has been previously reported. Here another case is presented of Madelung's disease involving the tongue. CASE REPORT: A 57-year-old woman was referred with the diagnosis of Madelung's disease, with slight difficulty in swallowing, dysarthria and dyspnoea while sleeping due to tongue swelling. Clinical examination revealed multiple, large disfiguring soft masses involving neck, upper arms and hips. There was enlargement of the tongue with bilateral protrusions and buccal displacement of the teeth. The masses were soft and non-tender. Bilateral partial glossectomy was performed under general anaesthesia. Histology revealed adipose tissue, interspersed within the lingual musculature. DISCUSSION: Lipomas in Madelung's disease are characterized by multiplicity, non-encapsulation and invasiveness. Over the years, the fat deposits enlarge significantly, become cosmetically deforming, and cause dyspnoea and dysphagia in advanced cases. The aetiology of benign symmetrical lipomatosis is still unknown. It is often accompanied by liver dysfunction probably due to alcoholism. Treatment is limited to surgical removal of the fatty tissue, in patients with a severe cosmetic deformity causing psychological stress, and in patients with dyspnoea or dysphagia if there is restriction of the aerodigestive tract.

Deglutition Disorders↗
PubMed2006

The oral manifestations of Maroteaux-Lamy syndrome (mucopolysaccharidosis VI): a case report.

Maroteaux-Lamy syndrome is one of the genetic disorders involving disturbances in mucopolysaccharide metabolism resulting in increased storage of acid mucopolysaccharide in various tissues. The basic defect in Maroteaux-Lamy syndrome is a deficiency of arylsulfatase B, which leads to accumulation of dermatan sulfate in tissues and their urinary excretion. The deposition of mucopolysaccharides leads to a progressive disorder involving multiple organs that often results in death in the second decade of life. This disease, which has several oral and dental manifestations, is first diagnosed on the basis of clinical findings. A large head, short neck, corneal opacity, open mouth associated with an enlarged tongue, enlargement of skull, and a long antero-posterior dimension are the main characteristic features. Dental complications can be severe and include unerupted dentition, dentigerous cystlike follicles, malocclusions, condylar defects, and gingival hyperplasia. An 11-year-old boy with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) is described in this article, with special emphasis on the oral manifestations.

Alveolar Process↗
PubMed2006

Bullous amyloidosis of the oral cavity: a rare clinical presentation and review.

Bullous amyloidosis (BA) is a rare cutaneous manifestation primarily of systemic amyloidosis, a disease in which abnormal proteinaceous material is formed and deposited in response to inflammatory conditions and plasma cell dyscrasias. Hemorrhagic bullae indicative of BA are usually associated with purpura and may be the initial clinical signs of systemic amyloidosis or monoclonal gammopathies, such as multiple myeloma and Waldenstrom's macroglobulinemia. Bullous amyloidosis of the oral cavity is highly uncommon and can mimic other vesiculobullous lesions of the oral mucosa. This article highlights an unusual case of oral BA and reviews important aspects of the disease.

Amyloidosis↗
PubMed1998

Lingual angioedema after perindopril use.

We report a case of severe lingual edema and airway compromise associated with angiotensin-converting enzyme inhibitor use. Although angiotensin-converting enzyme inhibitors are generally considered as safe drugs, angioedema may induce severe respiratory distress and death.

Angioedema↗
PubMedDate not supplied

Origin of uniparental disomy 6: presentation of a new case and review on the literature.

Paternal uniparental disomy (UPD) of chromosome 6 has been reported several times in patients with (transient) neonatal diabetes mellitus ((T)NDM). Here we present our short tandem repeat typing results in a new patient with NDM, revealing a paternal isodisomy (UPiD). Summarising these data with those published previously on complete paternal (n=13) and maternal (n=2) UPD6, all cases show isodisomy. In general, several modes of UPD formation have been suggested: While a meiotic origin of UPD mainly results in a uniparental heterodisomy (UPhD), UPiD is probably the result of a post-zygotic mitotic error. This mode of formation consists of a mitotic nondisjunction in a disomic zygote, followed by either a trisomic rescue or a reduplication. Endoduplication in a monosomic zygote is another possible but less probable mechanism, taking into consideration that monosomic zygotes are not viable. The exclusive finding of isodisomy in case of chromosome 6 therefore gives strong evidence that segregational errors of this chromosome are mainly influenced by postzygotic factors. This hypothesis is supported by the observation of two cases with partial paternal UPiD6 originating from mitotic recombination events. The influence of mitotic segregational errors in UPD6 formation is in agreement with the results in trisomy/UPD of other chromosomes of the C group (7 and 8), and is in remarkable contrast to the findings in studies on the origin of the frequent aneuploidies. Multiple factors ensure normal segregation and we speculate that they vary in importance for each chromosome.

Chromosome Aberrations↗