ABSTRACT
A 5-year-old Mexican girl had a bilateral, systematized epidermal nevus of a non-epidermolytic, non-organoid type covering large parts of her body with the exception of the scalp. Clinically, this nevus was of a soft, velvety type showing affinity to the large body folds. Histopathological examination revealed orthohyperkeratosis and papillomatosis without granular degeneration and without any abnormality of adnexal structures. During infancy she developed seizures, and subsequently a delayed mental development was noted. Computer tomography of the brain revealed cortical and subcortical atrophy, a subdural hygroma in the left frontoparietotemporal region, and hypoplasia of corpus callosum. Molecular analysis of a biopsy specimen obtained from the epidermal nevus revealed a heterozygous R248C hotspot mutation in FGFR3, whereas in normal skin the FGFR3 wild-type allele was exclusively found. The R248C mutation was also present in DNA extracted from blood leukocytes. Because FGFR3 is involved in the development of the central nervous system, the clinical and genetic findings of this case indicate a widespread mosaicism of the FGFR3 mutation. This unusual mosaic phenotype may represent a distinct entity within the group of epidermal nevus syndromes.
Subject(s)
Abnormalities, Multiple/genetics , Cerebrum/abnormalities , Mosaicism , Nevus, Pigmented/genetics , Receptor, Fibroblast Growth Factor, Type 3/genetics , Skin Neoplasms/genetics , Child, Preschool , Epidermis/abnormalities , Epilepsy/genetics , Female , Humans , Intellectual Disability/genetics , Mutation , SyndromeABSTRACT
Se presenta el caso de un paciente masculino de 68 años, con una neoformación en cuero cabelludo, que histológicamente fue diagnosticada como metástasis de adenocarcinoma de células claras del riñón. Paciente con antecedentes de nefrectomía de hace 4 años, sin estudio histopatológico. No se encontró alteración en el resto de la economía. Se manejó con radioterapia. Las lesiones metastásicas de un adenocarcinoma renal afectan diferentes órganos, observándose solamente el 3 por ciento de ellas en piel, la localización más frecuente es la piel cabelluda y la cara. Clínicamente las lesiones deben diferenciarse de aquellas ampliamente vascularizadas. Su diagnóstico y manejo debe realizarse integramente y ser multidisciplinario
