ONLINE MUTATION REPORT

A germline mutation in KIT in familial diffuse cutaneous mastocytosis

X Tang¹, M Boxer¹, A Drummond², P Ogston³, M Hodgins², A D Burden²

¹ Department of Medical Genetics, University of Glasgow, Glasgow G11 6NT, Scotland, UK
² Department of Dermatology, University of Glasgow, Glasgow G11 6NT, Scotland, UK
³ Department of Pathology, University of Glasgow, Glasgow G11 6NT, Scotland, UK

Correspondence to:
Correspondence to:
Dr A D Burden
University Department of Dermatology, Western Infirmary, Glasgow G11 6NT, Scotland, UK; david.burden@northglasgow.scot.nhs.uk

Received 9 December 2003

Accepted 11 December 2003

Abbreviations: CM, cutaneous mastocytosis; DCM, diffuse cutaneous mastocytosis; GIST, gastrointestinal stromal tumour; LCM, laser capture microdissection

The first 150 words of the full text of this article appear below.

Mastocytosis (MIM 154800) is a group of rare disorders which have in common an abnormal accumulation of mast cells in specific organs, including gastrointestinal tract, bone marrow, liver, spleen, lymph nodes, and skin, which is the most frequently affected organ.¹ Based on the pattern of involvement, cutaneous mastocytosis (CM) is classified into solitary mastocytoma, urticaria pigmentosa, telangiectasia macularis eruptiva perstans, and diffuse cutaneous mastocytosis (DCM). DCM is the least common form of CM and usually develops early in life. It is characterised by an extensive erythroderma as a result of diffuse infiltration of the dermis by mast cells. CM usually occurs as a sporadic disease. It has become apparent over the past few years² that the majority of adults with CM have a somatic mutation (D816V or V560G) in the receptor tyrosine kinase, KIT (MIM 164920). These somatic mutations have not however been detected in typical childhood CM or in . . . [Full text of this article]

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