Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene
| Autor: | Amaia Urtaran-Ibarzabal, Tatiana Piqueres-Zubiaurre, Zuriñe Martínez de Lagrán, Ricardo González-Pérez, Guiomar Perez de Nanclares |
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| Rok vydání: | 2016 |
| Předmět: |
Male
medicine.medical_specialty Mastocytosis Cutaneous Stromal cell Gastrointestinal Stromal Tumors Dermatology 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Hyperpigmentation medicine Humans Stromal tumor Child Gene Skin Cutaneous Mastocytosis business.industry Infant Mastocytoma medicine.disease Proto-Oncogene Proteins c-kit 030220 oncology & carcinogenesis Mutation Pediatrics Perinatology and Child Health C-kit Receptor medicine.symptom Familial progressive hyperpigmentation business |
| Zdroj: | Pediatric Dermatology. 34:84-89 |
| ISSN: | 0736-8046 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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