Cutaneous Mastocytosis in Twins: Multiple Mastocytomas and Urticaria Pigmentosa in Two Pairs of Monozygotic Twins

Sotta, Pilar de la; Romero, William; Krämer, Daniela; Cárdenas, Consuelo; González, Sergio

doi:10.1111/j.1525-1470.2011.01351.x

Cited by 10 publications

(1 citation statement)

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“…Although numerous reports of familial occurrence and concordant twin pairs have strongly suggested a genetic basis for CM, few data are available concerning the genetic contribution to systemic MCAD. To date, systemic MCAD has been assumed to be largely sporadic in nature, and only three familial cases of systemic MCAD (two SM and one MCAS) have been reported.…”

Section: Heritability Of Systemic Mcadmentioning

confidence: 99%

Systemic mast cell activation disease: the role of molecular genetic alterations in pathogenesis, heritability and diagnostics

2012

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SummaryDespite increasing understanding of its pathophysiology, the aetiology of systemic mast cell activation disease (MCAD) remains largely unknown. Research has shown that somatic mutations in kinases are necessary for the establishment of a clonal mast cell population, in particular mutations in the tyrosine kinase Kit and in enzymes and receptors with crucial involvement in the regulation of mast cell activity. However, other, as yet undetermined, abnormalities are necessary for the manifestation of clinical disease. The present article reviews molecular genetic research into the identification of disease-associated genes and their mutational alterations. The authors also present novel data on familial systemic MCAD and review the associated literature. Finally, the importance of understanding the molecular basis of inherited mutations in terms of diagnostics and therapy is emphasized.

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Section: Heritability Of Systemic Mcadmentioning

confidence: 99%