RESUMO
Inflammatory breast cancer is an aggressive and infiltrative malignancy that is often misdiagnosed as an infection because of its symptoms and signs of inflammation, delaying proper diagnosis and treatment. We report a case of inflammatory breast cancer showing correlation between dermoscopic and histopathological diagnoses. We highlight the utility of dermoscopy for skin biopsy site selection.
Assuntos
Carcinoma Ductal de Mama/patologia , Dermoscopia/métodos , Neoplasias Inflamatórias Mamárias/patologia , Pele/patologia , Biópsia , Carcinoma Ductal de Mama/diagnóstico , Feminino , Humanos , Neoplasias Inflamatórias Mamárias/diagnóstico , Pessoa de Meia-IdadeRESUMO
Abstract: Inflammatory breast cancer is an aggressive and infiltrative malignancy that is often misdiagnosed as an infection because of its symptoms and signs of inflammation, delaying proper diagnosis and treatment. We report a case of inflammatory breast cancer showing correlation between dermoscopic and histopathological diagnoses. We highlight the utility of dermoscopy for skin biopsy site selection.
Assuntos
Humanos , Feminino , Pessoa de Meia-Idade , Pele/patologia , Carcinoma Ductal de Mama/patologia , Dermoscopia/métodos , Neoplasias Inflamatórias Mamárias/patologia , Biópsia , Carcinoma Ductal de Mama/diagnóstico , Neoplasias Inflamatórias Mamárias/diagnósticoRESUMO
The melanocortin 1 receptor (MC1R) is a highly polymorphic gene. The loss-of-function MC1R variants ("R") have been strongly associated with red hair color phenotype and an increased melanoma risk. We sequenced the MC1R gene in 175 healthy individuals to assess the influence of MC1R on nevus phenotype. We identified that MC1R variant carriers had larger nevi both on the back [p-value = .016, adjusted for multiple parameters (adj. p-value)] and on the upper limbs (adj. p-value = .007). Specifically, we identified a positive association between the "R" MC1R variants and visible vessels in nevi [p-value = .033, corrected using the FDR method for multiple comparisons (corrected p-value)], dots and globules in nevi (corrected p-value = .033), nevi with eccentric hyperpigmentation (corrected p-value = .033), a high degree of freckling (adj. p-value = .019), and an associative trend with presence of blue nevi (corrected p-value = .120). In conclusion, the MC1R gene appears to influence the nevus phenotype.
