Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c‐KIT Receptor Gene

Abstract

Molecular analysis of c-KIT should be considered in the presence of FPH with systemic involvement.

Familial progressive hyperpigmentation: A family resurvey and ultrastructural skin investigation

“…Since FPH was first reported in 1971, no more than 10 cases have been documented . The present case differed from other recorded cases in a few specific features.…”

“…To the best of our knowledge, no more than 10 cases of FPH have been documented in the world. [1][2][3][4][5][6][7][8] Among those cases reported as FPH, the conditions described by some authors may indeed be familial progressive hyper-and hypopigmentation because they show the characteristic hyperpigmentation intermixed with scattered hypopigmented maculae, large hypopigmented areas, café-au-lait spots and generalized lentiginosis. [7][8][9] We have described a familial case of FPH previously.…”

Autosomal dominant progressive hyperpigmentation and lentigines in a Japanese pedigree due to a missense mutation near the C-terminus ofKIT

“…The hyperpigmentation phenotype in this family is mild (Fig. ) compared with that in individuals with KIT mutations associated with both hyperpigmentation and GIST . In contrast to somatic mutations, germline mutations of KIT have been found in only a small number of cases of familial mastocytosis and GIST .…”

“…1) compared with that in individuals with KIT mutations associated with both hyperpigmentation and GIST. 5,6 In contrast to somatic mutations, germline mutations of KIT have been found in only a small number of cases of familial mastocytosis and GIST. 3,7 As of 2016, 37 reports described 21 well-sequenced germline mutations in KIT.…”

Novel KIT mutation presenting as marked lentiginosis

“…Cases of progressive pigmentation have also been reported in association with KIT mutations and a variety of systemic manifestations . The KIT gene encodes a receptor tyrosine kinase protein with a crucial role in the regulation of several cellular processes.…”