Article
Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene.
Pediatric dermatology - 1 Jan 2017
Piqueres-Zubiaurre Tatiana, Martínez de Lagrán Zuriñe, González-Pérez Ricardo, Urtaran-Ibarzabal Amaia, Perez de Nanclares Guiomar
Abstract excerpt
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...
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