Hyperaldosteronism in an adolescent with Gardner's syndrome

Felner, Eric I.; Taweevisit, Mana; Gow, Kenneth W.

doi:10.1016/j.jpedsurg.2009.01.049

Cited by 7 publications

(4 citation statements)

References 9 publications

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“…In addition, an increased risk exists for the development of other benign and malignant tumors 36 . For example, Gardner's syndrome refers to familial adenomatous polyposis associated with a number of extra‐intestinal manifestations, which include osteomas, infundibular follicular cysts with matrical differentiation, Gardner fibroma, nuchal‐type fibroma, desmoid tumors and adrenal tumors 16,37–40 . More extensive genetic testing for APC mutations has revealed that familial adenomatous polyposis shows a broad phenotypic spectrum that varies from early onset and severe disease to late onset of attenuated polyposis manifesting in the 8th decade of life 20 .…”

Section: Discussionmentioning

confidence: 99%

Extra nuchal-type fibroma associated with elastosis, traumatic neuroma, a rare APC gene missense mutation, and a very rare MUTYH gene polymorphism: a case report and review of the literature*

Linos

Sedivcova

Černá

et al. 2011

Journal of Cutaneous Pathology

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We report a case of an extra nuchal-type fibroma in a 51-year-old male suspected to have attenuated familial adenomatous polyposis (Gardner's syndrome), who presented with a longstanding buttock mass excised due to enlargement and pain. Histopathologically, lobules of haphazard, hypocellular, hyalinized collagen bundles replaced the dermis and subcutis and entrapped nerve bundles, mimicking Morton neuroma. Ramifying nerve twigs found around larger nerve fascicles showed the co-existence of traumatic neuroma. Elastic tissue stain revealed elastosis characterized by large, arborizing fibers lying between and within the hyalinized collagen bundles. Modified Masson's trichrome stain showed light blue staining of collagen bundles producing the hyalinized nodules with irregular, light red staining of collagen bundles at their periphery and within tumor collagen. Compression and/or degeneration of collagen and secondary elastosis with later entrapment by tumor collagen could explain this microscopic phenotype. By immunohistochemistry, tumor spindle cells expressed nuclear β-catenin and cyclin D1, mostly within regions of fibrosis implicating activation of the adenomatous polyposis coli (APC)-Wnt pathway. Genetic analysis showed a missense mutation in APC gene (c.7504G>A, p.G2502S in exon 15) and a functional homozygous polymorphism in the MUTYH gene (c.36+325G>C, (IVS1+5G/C)). Nuchal-type fibroma has been associated with Gardner's syndrome and trauma. In this patient, genetic predisposition coupled with repetitive, localized trauma and collagen degeneration may have provided the stimulus for the development of extra nuchal-type fibroma.

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Section: Discussionmentioning

confidence: 99%

Extra nuchal-type fibroma associated with elastosis, traumatic neuroma, a rare APC gene missense mutation, and a very rare MUTYH gene polymorphism: a case report and review of the literature*

Linos

Sedivcova

Černá

et al. 2011

Journal of Cutaneous Pathology

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“…Although not common, endocrine neoplasms such as parathyroid, pituitary, pancreatic islet cell, and adrenal neoplasms have all been described in patients with GS [ 2 ]. The first case of a FAP patient with an adrenal adenoma was published almost a century ago [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…The polyps typically develop in adolescence and undergo malignant change between the third and fifth decades of life. The extracolonic manifestations include osteomas, desmoids tumors, epidermoid cysts, and malignancies [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Adrenocortical Secreting Mass in a Patient with Gardner's Syndrome: A Case Report

Rekik

Salah²,

Kallel³

et al. 2010

Case Reports in Medicine

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Gardner's syndrome (GS) is a dysplasia characterized by neoformations of the intestine, soft tissue, and osseous tissue. Endocrine neoplasms have occasionally been reported in association with GS. Adrenal masses in GS are rare, and few have displayed clinical manifestations. In the current paper, The authors report a 37-year-old male patient with GS including familial adenomatous polyposis (FAP) and mandible osteoma who presented with an incidental adrenal mass. Computerized tomography adrenal scan identified bilateral masses. Functional analyses showed a hormonal secretion pattern consistent with pre-Cushing's syndrome. Other extraintestinal manifestations were hypertrophy of the pigmented layer of the retina and histiocytofibroma in the right leg. This paper describes a rare association of adrenocortical secreting mass in an old male patient with Gardner syndrome.

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“…Although uncommon among the extra intestinal features of Gardner's syndrome, numerous endocrine manifestations have been reported. These include thyroid cancer, adrenal adenomas, parathyroid adenomas, pituitary chromophobe adenomas and pancreatic islet cell adenomas [2][3][4][5][6][7].…”

mentioning

confidence: 99%

Continuous subcutaneous insulin usage in a patient with no gut

Annamalai¹,

Mankia²,

Kandasamy³

et al. 2010

Diabetic Medicine

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evidence of benefit over the long term. Nevertheless, the evidence shows that for every kilogram of weight loss in the subjects with Type 2 diabetes, the HbA 1c declined by 0.09% and this would be expected to contribute to a reduction in the complications of diabetes over the long term, especially in view of the fact that there were no adverse effects upon lipid levels.In conclusion, this study has shown that weight loss was greater with a low-carbohydrate diet compared with low-fat dietary advice over 3 months and this effect was maintained at 9 months. At 2 years' follow-up there were no significant differences in weight loss, measures of glycaemia or lipid levels in both diabetic and non-diabetic subjects. References 1 Bantle JP, Wylie-Rosett J, Albright AL, Apovian CM, Clark NG, Franz MJ et al. Nutrition recommendations and interventions for diabetes: a position statement of the American Diabetes Association. Diabetes Care 2008; 31: S61-S78. 2 Dyson PA, Beatty S, Matthews DR. A low-carbohydrate diet is more effective in reducing body weight than healthy eating in both diabetic and non-diabetic subjects. Diabet Med 2007; 24: 1430-1435. 3 Kirk JK, Graves DE, Craven TE, Lipkin EW, Austin M, Margolis KL. Restricted-carbohydrate diets in patients with type 2 diabetes: a meta-analysis.

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Hyperaldosteronism in an adolescent with Gardner's syndrome

Cited by 7 publications

References 9 publications

Extra nuchal-type fibroma associated with elastosis, traumatic neuroma, a rare APC gene missense mutation, and a very rare MUTYH gene polymorphism: a case report and review of the literature*

Extra nuchal-type fibroma associated with elastosis, traumatic neuroma, a rare APC gene missense mutation, and a very rare MUTYH gene polymorphism: a case report and review of the literature*

Adrenocortical Secreting Mass in a Patient with Gardner's Syndrome: A Case Report

Continuous subcutaneous insulin usage in a patient with no gut

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