Medullary thyroid carcinoma and phaeochromocytoma: a familial chromaffinomatosis.

Ljungberg, Otto; Cederquist, Ebbe; Studnitz, W. von

doi:10.1136/bmj.1.5535.279

Cited by 90 publications

(10 citation statements)

References 13 publications

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“…The only positive results were those in one case of Moertel et al (1965), two cases of Cope and Williams (1967), and one case of Ibanez et al (1967) which concerned serotonin and its derivatives, and one case of Williams where kallikrein was demonstrated in the tumour. As far as Ljungberg's discovery of fluorescence after exposure of the tumour to formol vapours is concerned (Jungberg, Cederquist, and Von Studnitz, 1967), this has not been confirmed by other authors (Meyer and Abdel-Bari, 1968) nor in our case 2 (Hillemand et al, 1967). Williams, Karim, and Sandler (1968) recently demonstrated the presence of appreciable amounts of prostaglandins E2 and F2 and in tumour tissue from four of seven cases of medullary carcinoma of the thyroid, with or without diarrhoea.…”

Section: Discussioncontrasting

confidence: 61%

Diarrhoea associated with medullary carcinoma of the thyroid

Bernier¹,

Rambaud²,

Cattan³

et al. 1969

Gut

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SUMMARY Diarrhoea, which is present in roughly one third of cases of medullary carcinoma of the thyroid, was investigated in five cases.Excessive loss of water and electrolytes in the stools was the major factor. Steatorrhoea was mild or absent, and intestinal absorption of glucose and vitamin B12 was normal; the histological appearance of the small intestinal mucosa was normal or subnormal. Water and sodium diarrhoea seems to be linked to a sometimes considerable increase in the rate of transit through the small intestine and colon, and may be relieved by codeine or codethyline. The frequent increase in the maximum blood sugar level during an oral tolerance test should not be interpreted as evidence of a paradiabetic condition. In fact, the intravenous glucose tolerance test is usually normal and the excessive rise in blood sugar after oral administration seems to be the consequence of the increased rate of transit through the small intestine.The link between the tumour and the disordered motility seems definite in view of certain cases in which removal of the tumour caused the diarrhoea to disappear immediately. Production by the tumour of serotonin or other derivatives of tryptophan or of kallikrein, which activates bradykinin, is rare. With regard to prostaglandins, high concentrations have been observed in the tumours and in the venous blood draining the tumours, but their presence in systemic blood is inconstant. The only hormonal substance, concentration of which seems to be definitely increased in the systemic blood of patients with a medullary carcinoma of the thyroid, is thyrocalcitonin but this hormone does not seem to have any effect on the motor activity of the digestive tract.Since the first descriptions by Williams (1966) and Bemiel, Bouvry, Cattan, and Prost (1966) diarrhoea associated with medullary carcinoma of the thyroid has been reported on several occasions (Bemier,

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Section: Discussioncontrasting

confidence: 61%

Diarrhoea associated with medullary carcinoma of the thyroid

Bernier¹,

Rambaud²,

Cattan³

et al. 1969

Gut

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“…Phaeochromocytoma is known to occur in association with medullary carcinoma of the thyroid (Ljundberg, Cederqvist and Standnitz, 1967;Sipple, 1961;Williams and Pollock, 1966); but in this patient the association with thyrotoxicosis was probably fortuitous.…”

Section: Discussionmentioning

confidence: 67%

A case of associated thyrotoxicosis and phaeochromocytoma. A diagnostic problem

Snow¹,

Burton²

1976

Postgraduate Medical Journal

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“…In this setting, the lesions are described as hypertrophic tortuous nerve bundles in the papillary and reticular dermis. Multiple cutaneous tumours, clinically characterised as fibromas, have been described in a family with medullary thyroid carcinoma and phaeochromocytoma . Unfortunately, no histological findings were available to confirm whether there were any features of neuroma/dermal hyperneury or whether these were indeed merely fibromas.…”

Section: Discussionmentioning

confidence: 99%

Expanding the clinical spectrum of dermal hyperneury: report of nine new cases and a review of the literature

et al. 2019

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Aims Dermal hyperneury is defined as the hypertrophy of small nerves in the dermis. It has been described in a variety of settings. We present a series of nine new cases with a distinctive clinical presentation and review the existing literature. The aim of the study was to summarise the clinical, histopathological and immunohistochemical findings in a case series of dermal hyperneury with unique clinical presentation. Methods and results Nine cases were identified from the referral practice of one of the authors. Clinical characteristics, including demographic details, were collated. The histopathological features and novel immunohistochemical findings were analysed. Four cases presented with multiple skin lesions. Clinical evaluation revealed no associated syndromic stigmata. The histology in all cases was that of dermal hyperneury. Immunohistochemistry for phosphatase and tensin homologue (PTEN) and RET was supportive of the lack of syndromic association. Conclusion The presentation of dermal hyperneury with multiple cutaneous lesions and no syndromic associations is distinctive, and no study with PTEN and RET immunohistochemistry has previously been reported. Comparisons with recent reports of multiple non‐syndromic mucocutaneous neuromas are discussed.

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Medullary thyroid carcinoma and phaeochromocytoma: a familial chromaffinomatosis.

Cited by 90 publications

References 13 publications

Diarrhoea associated with medullary carcinoma of the thyroid

Diarrhoea associated with medullary carcinoma of the thyroid

A case of associated thyrotoxicosis and phaeochromocytoma. A diagnostic problem

Expanding the clinical spectrum of dermal hyperneury: report of nine new cases and a review of the literature

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