家族性进行性色素沉着、皮肤肥大细胞增多症和胃肠道间质瘤作为c-KIT受体基因突变的临床表现
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene.
作者信息
Piqueres-Zubiaurre Tatiana, Martínez de Lagrán Zuriñe, González-Pérez Ricardo, Urtaran-Ibarzabal Amaia, Perez de Nanclares Guiomar
机构信息
Service of Dermatology, OSI Araba University Hospital, Vitoria-Gasteiz, Alava, Spain.
(Epi)Genetics Laboratory, BioAraba Health Research Institute, OSI Araba University Hospital, Vitoria-Gasteiz, Alava, Spain.
出版信息
Pediatr Dermatol. 2017 Jan;34(1):84-89. doi: 10.1111/pde.13040. Epub 2016 Dec 16.
BACKGROUND
Familial progressive hyperpigmentation (FPH) is an autosomal dominant disorder characterized by the appearance of hyperpigmented patches on the skin from early infancy that increase in size and number with age.
METHODS
We report the clinical and molecular studies of an 11-year-old boy who had areas of hyperpigmentation since birth that had spread across his body as irregular hyperpigmented macules and papules, and include relevant history in family members.
RESULTS
Affected members of his family shared a mutation in the c-KIT gene. All had progressive hyperpigmentation, in some cases accompanied by gastrointestinal stromal tumors and mastocytoma. There have been few reports of familial progressive hyperpigmentation together with systemic manifestations.
CONCLUSIONS
Molecular analysis of c-KIT should be considered in the presence of FPH with systemic involvement.
背景
家族性进行性色素沉着（FPH）是一种常染色体显性疾病，其特征是从婴儿早期开始皮肤出现色素沉着斑，且随着年龄增长，其大小和数量会增加。
方法
我们报告了一名11岁男孩的临床和分子研究情况，该男孩自出生以来就有色素沉着区域，这些区域以不规则的色素沉着斑和丘疹形式遍布全身，并包括其家庭成员的相关病史。
结果
他家族中的受影响成员在c-KIT基因中存在一个突变。所有人都有进行性色素沉着，在某些情况下还伴有胃肠道间质瘤和肥大细胞瘤。关于家族性进行性色素沉着伴全身表现的报道很少。
结论
对于伴有全身受累的FPH患者，应考虑对c-KIT进行分子分析。
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