Primary familial cutaneous amyloidosis. a study of HLA antigens in a Puerto Rican family

Wp, De Pietro

doi:10.1001/archderm.117.10.639

Cited by 18 publications

(2 citation statements)

References 15 publications

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“…CLA is an extremely rare skin disease that occurs both in sporadic and familial forms, the latter being inherited as an autosomal dominant trait. These patients have pruritic skin lesions that can be found on the back or extensor surfaces of the thigh, leg, or arm (81)(82)(83)(84). RET mutations in codon 634 have been identified in three independent families segregating both CLA and MEN 2A (56,85).…”

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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“…The ®rst two reports were South American. 4,5 One family each came from Russia, 6 Germany, 7 Puerto Rico, 8 England, 9 Italy 10 and Japan. 2 Families from Singapore 11 and Malaysia 3 were ethnic Chinese.…”

Section: Introductionmentioning

confidence: 99%

Familial primary cutaneous amyloidosis in a South African family

1999

Clinical and Experimental Dermatology

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Four members of a white South African family, spanning four generations were diagnosed as suffering from familial primary lichen amyloidosis. All showed similar clinical features which included scaling papules on the lower legs and arms, and a pebbled, lichenified appearance of the skin on the back. The diagnosis was confirmed by light and electron microscopy. This is the eleventh report of familial primary cutaneous amyloidosis and the first in South Africa.

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The Cutaneous Amyloidoses

Breathnach¹

1985

Arch Dermatol

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Primary familial cutaneous amyloidosis. a study of HLA antigens in a Puerto Rican family

Cited by 18 publications

References 15 publications

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Medullary Thyroid Carcinoma: Recent Advances and Management Update

Familial primary cutaneous amyloidosis in a South African family

The Cutaneous Amyloidoses

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