A germline mutation in KIT in familial diffuse cutaneous mastocytosis
A germline mutation in KIT in familial diffuse cutaneous mastocytosis
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DOI：
10.1136/jmg.2003.015156
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发表时间：
2004-06
影响因子：
4
通讯作者：
X. Tang;M. Boxer;A. Drummond;P. Ogston;M. Hodgins;A. Burden
中科院分区：
文献类型：
--
作者：
X. Tang;M. Boxer;A. Drummond;P. Ogston;M. Hodgins;A. Burden
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 the germline in the rare instances of familial CM reported.2,3 We describe a family in which DCM affects three generations. We found linkage to chromosome 4 and a novel germline mutation in KIT (A533D) in affected family members. ### Family The family pedigree is illustrated in figure 1. The proband (IV:1) was born at term after an uneventful pregnancy. At 4 months of age he developed generalised pruritus and intermittent blistering on his scalp. He gave no history of wheezing, flushing, or diarrhoea. At the age of 9 months he had dermographism on the trunk (fig 2) and erosions and crusting of the scalp. He intermittently developed groups of blisters on his scalp and posterior trunk (fig 3). A solitary yellow-brown papule, similar in appearance to a solitary mastocytoma, was present on his arm and remained unchanged over 2 years (fig 4). Physical examination was otherwise unremarkable. In …
