Premium
Cutaneous hyperpigmentation and familial gastrointestinal stromal tumour associated with KIT mutation
Author(s) -
Wali G. N.,
Halliday D.,
Dua J.,
Ieremia E.,
McPherson T.,
Matin R. N.
Publication year - 2019
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.13757
Subject(s) - gist , hyperpigmentation , medicine , vitiligo , dermatology , urticaria pigmentosa , gastrointestinal tract , pigmentation disorder , germline mutation , mutation , pathology , stromal cell , biology , gene , genetics
Summary Gastrointestinal stromal tumours ( GIST s) are mesenchymal tumours arising in the gastrointestinal tract. Early detection, before metastasis occurs, is important as complete surgical excision achieves cure. Approximately 85% of GIST s are associated with mutations in the KIT gene, and although the majority of GIST s are sporadic, familial GIST s have been identified. Several families with multiple GIST tumours have also been described with various cutaneous findings including hyperpigmentation, multiple lentigines, vitiligo and urticaria pigmentosa. We discuss a 6‐year‐old boy who presented with an unusual pattern of hyperpigmentation in association with a family history of GIST . A causative KIT mutation was identified in DNA from the pigmented skin and from the resected GIST , and the patient was referred to the Paediatric Gastroenterology department for GIST screening. The term ‘ GIST cutaneous hyperpigmentation disease’ has been suggested previously for the association of familial GIST with cutaneous hyperpigmentation caused by a germline KIT mutation.