Mucocutaneous Neuromas

Schaffer, Julie V.; Kamino, Hideko; Witkiewicz, Agnieszka K.; McNiff, Jennifer M.; Orlow, Seth J.

doi:10.1001/archderm.142.5.625

Cited by 69 publications

(25 citation statements)

References 79 publications

(107 reference statements)

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“…Lesions were first noticed in the second decade, but a few fibromas or palmoplantar keratoses were occasionally present at birth. Mucocutaneous neuromas have been reported in 5-11% of CS patients, with symptoms manifesting before age 18 in over half of the cases (Salem and Steck 1983;Schaffer et al 2006;Starink et al 1986) Lipomas, which are a frequent finding in patients with BRRS, are also likely more common than appreciated in CS. Salem and Steck (1983) found lipomas in 39% of 46 cases reviewed, while Starink et al (1986) found lipomas report in 31% of 100 cases.…”

Section: Skin Lesionsmentioning

confidence: 99%

Cowden Syndrome: A Critical Review of the Clinical Literature

Pilarski

2008

Journal of Genetic Counseling

285

252

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Cowden syndrome (CS) is a multi-system disease involving hamartomatous overgrowth of tissues of all three embryonic origins and increased risks for thyroid, breast and possibly other cancers. Benign breast, thyroid, uterine and skin lesions are also common. Approximately 80% of patients with CS have an identifiable germline mutation in the PTEN gene. The majority of the existing data on the frequencies of component clinical features have been obtained from compilations of case reports in the literature, many of which predate the establishment in 1996 of consensus diagnostic criteria. Many of these reports also suffer from ascertainment bias which emphasized the dermatologic features of the disease. This paper presents an overview of Cowden syndrome focusing on a critical evaluation of the major literature on the component cancers, benign features, and molecular findings in CS, noting the limitations of the published data.

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Section: Skin Lesionsmentioning

confidence: 99%

Cowden Syndrome: A Critical Review of the Clinical Literature

Pilarski

2008

Journal of Genetic Counseling

285

252

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“…Histologically, mucosal neuromas represent tortuous, abnormal enlargements of nerves at submucosal sites (Figure 7). It should be noted that multiple neuromas were the subject of a curious report in a patient with a germline PTEN mutation[96], therefore in rare occasions they may arise independent of MEN 2b. Gastrointestinal ganglioneuromatosis consists of a similar enlargement and tortuosity of submucosal and myenteric plexuses in the intestine.…”

Section: Miscellaneous Syndromes: Hamartomatous Proliferations Of Nervementioning

confidence: 99%

Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes

2011

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Neoplasms of the peripheral nerve sheath represent essential clinical manifestations of the syndromes known as the neurofibromatoses. Although involvement of multiple organ systems, including skin, central nervous system and skeleton, may also be conspicuous, peripheral nerve neoplasia is often the most important and frequent cause of morbidity in these patients. Clinical characteristics of neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) have been extensively described and studied during the last century, and the identification of mutations in the NF1 and NF2 genes by contemporary molecular techniques have created a separate multidisciplinary field in genetic medicine. In schwannomatosis, the most recent addition to the neurofibromatosis group, peripheral nervous system involvement is the exclusive (or almost exclusive) clinical manifestation. Although the majority of cases of schwannomatosis are sporadic, approximately a third occur in families and a subset of these has recently been associated with germline mutations in the tumor suppressor gene SMARCB1/INI1. Other curious syndromes that involve the peripheral nervous system are associated with predominant endocrine manifestations, and include Carney Complex and MEN2b, secondary to inactivating mutations in the PRKAR1A gene in a subset, and activating mutations in RET respectively. In this review, we provide a concise update on the diagnostic criteria, pathology and molecular pathogenesis of these enigmatic syndromes in relation to peripheral nerve sheath neoplasia.

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“…Benign diseases with an overexpression of mucins include mucocutaneous neuromas, [40] generalized sclerodermatous graft-vs.-host disease, [41] follicular mucinosis (both idiopathic and lymphoma associated types) [42] and morphea profunda. [43]…”

Section: Mucin Expression In Benign Skin Disordersmentioning

confidence: 99%

Role of mucins in the skin during benign and malignant conditions

Chakraborty¹,

Bonthu²,

Swanson³

et al. 2011

Cancer Letters

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Skin related diseases comprise a major health challenge to the practicing physician, and constitute a significant psychological, social and financial burden to the society. Further, skin cancer, especially non-melanoma skin cancer is currently the leading type of malignancy in the Western world. Given the huge burden of skin diseases, there is growing emphasis on understanding their pathophysiology, and towards their early detection. Mucins are high molecular weight O- and N-linked glycoproteins that have emerged in recent years as important molecules in maintaining health and in promoting or protecting against inflammation and cancer. They have also begun to emerge as highly specific diagnostic and prognostic markers and novel therapeutic targets in several malignant disorders. However, their role in cutaneous pathologies has remained largely obscured. The present review provides the expression patterns and proposed role of mucins in the healthy skin and various benign and malignant skin diseases. The review has immense clinical significance as the availability of highly specific reagents including monoclonal antibodies against mucins makes them extremely attractive targets for specific diagnosis and/or immunotherapy of benign and malignant cutaneous diseases.

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Mucocutaneous Neuromas

Cited by 69 publications

References 79 publications

Cowden Syndrome: A Critical Review of the Clinical Literature

Cowden Syndrome: A Critical Review of the Clinical Literature

Genetic predisposition to peripheral nerve neoplasia: diagnostic criteria and pathogenesis of neurofibromatoses, Carney complex, and related syndromes

Role of mucins in the skin during benign and malignant conditions

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