Multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis: Description of a new family

Pacini, Furio; Fugazzola, Laura; Bevilacqua, Generoso; Viacava, Paolo; Nardini, V.; Martino, Enio

doi:10.1007/bf03348840

Cited by 34 publications

(9 citation statements)

References 5 publications

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“…A second unusual phenotype found to be present in a small number of MEN 2A families is cutaneous lichen amyloidosis (CLA) (74)(75)(76)(77)(78)(79)(80). CLA is an extremely rare skin disease that occurs both in sporadic and familial forms, the latter being inherited as an autosomal dominant trait.…”

Section: Spectrum Of Mutationsmentioning

confidence: 99%

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Marsh

Learoyd²,

Robinson³

1995

Thyroid

138

101

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Medullary thyroid carcinoma (MTC) is a malignancy of the thyroid C-cells that comprises 5-10% of all thyroid cancers. MTC occurs in both sporadic and familial forms, the latter making up 25% of all MTCs and being comprised of three distinct syndromes--multiple endocrine neoplasia type 2A (MEN 2A), multiple endocrine neoplasia type 2B (MEN 2B), and familial medullary thyroid carcinoma (FMTC). To date, screening for MTC has been performed using the pentagastrin stimulation test, which is a provocative test for calcitonin release. Germline mutations in the RET protooncogene have been identified in families manifesting these syndromes and genetic screening of individuals at risk of one of these syndromes has become integral to their clinical management. The majority of the mutations associated with MEN 2A and FMTC are tightly clustered in a cysteine-rich region of the RET receptor. A single mutation associated with MEN 2B is in the the tyrosine kinase domain of the RET receptor. Somatic mutations have been identified in the tumor tissue of individuals with sporadic MTC and may prove to be helpful markers in discerning the hereditary or sporadic nature of the MTC. There is general agreement that the primary operation for MTC should include total thyroidectomy and central neck lymph node clearance. The role of microdissection for recurrent disease awaits longitudinal evaluation. External radiotherapy, radionuclide therapy, and chemotherapy may have a role in palliation, but have not been proven to have a curative value. Prognostic factors are discussed.

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Section: Spectrum Of Mutationsmentioning

confidence: 99%

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Marsh

Learoyd²,

Robinson³

1995

Thyroid

138

101

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“…Other less common variants of MEN2 are FMTC [63,64], MEN2A with cutaneous lichen amyloidosis [65,66], and MEN2A or FMTC with Hirschsprung's disease [4,67,68]. MEN2A carriers usually develop bilateral MTC before 10 years of age.…”

Section: Classification Of Multiple Endocrine Neoplasia Type 2 Syndromesmentioning

confidence: 99%

Diagnosis and management of medullary thyroid carcinoma

Massoll

Mazzaferri

2004

Clinics in Laboratory Medicine

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“…137 The term soft-tissue amyloidoma of the extremities has been used for cases of solitary, localized, tumor-like deposits of amyloid, in the absence of systemic amyloidosis. [138][139][140] Variants of PLCA Several variants of primary localized amyloidosis have been described, including a poikiloderma-like cutaneous syndrome, 141 a familial form of localized cutaneous amyloidosis that is related in some cases to multiple endocrine neoplasia type 2a, 142 and an X-linked pattern of inheritance of cutaneous amyloidosis. 143 …”

Section: Nodular Amyloidosismentioning

confidence: 99%

Cutaneous Deposits

Molina-Ruiz

Cerroni

Kutzner

et al. 2014

The American Journal of Dermatopathology

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: The cutaneous deposition disorders are a group of unrelated conditions characterized by the accumulation of either endogenous or exogenous substances within the skin. These cutaneous deposits are substances that are not normal constituents of the skin and are laid down usually in the dermis, but also in the subcutis, in a variety of different circumstances. There are 5 broad categories of cutaneous deposits. The first group includes calcium salts, bone, and cartilage. The second category includes the hyaline deposits that may be seen in the dermis in several metabolic disorders, such as amyloidosis, gout, porphyria, and lipoid proteinosis. The third category includes various pigments, heavy metals, and complex drug pigments. The fourth category, cutaneous implants, includes substances that are inserted into the skin for cosmetic purposes. The fifth category includes miscellaneous substances, such as oxalate crystals and fiberglass. In this article, the authors review the clinicopathologic characteristics of cutaneous deposition diseases, classify the different types of cutaneous deposits, and identify all the histopathologic features that may assist in diagnosing the origin of a cutaneous deposit.

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Multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis: Description of a new family

Cited by 34 publications

References 5 publications

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Diagnosis and management of medullary thyroid carcinoma

Cutaneous Deposits

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