Asunto(s)
Neumonía Viral , Piel , Betacoronavirus , Biopsia , COVID-19 , Infecciones por Coronavirus , Humanos , Pandemias , SARS-CoV-2Asunto(s)
Gangrena/complicaciones , Escroto/patología , Úlcera/complicaciones , Vasculitis/complicaciones , Adulto , Humanos , Masculino , Adulto JovenAsunto(s)
Uñas Malformadas/diagnóstico , Niño , Dedos , Humanos , Masculino , Uñas/diagnóstico por imagen , Fotograbar , Dedos del PieAsunto(s)
Glucagonoma/diagnóstico , Eritema Necrolítico Migratorio/diagnóstico , Neoplasias Pancreáticas/diagnóstico , Piel/patología , Biopsia , Glucagonoma/complicaciones , Humanos , Masculino , Persona de Mediana Edad , Eritema Necrolítico Migratorio/etiología , Eritema Necrolítico Migratorio/patología , Neoplasias Pancreáticas/complicacionesRESUMEN
A 17-year-old male presented with a large sebaceous naevus (SN) comprising part of his right face and scalp and a speckled lentiginous naevus (SLN) on his left trunk, hip, neck and scalp with a checkerboard pattern. His right oral hemimucosa showed extensive papillomatous lesions, which were contiguous with the upper-lip SN lesions. He also showed extracutaneous manifestations including cardiac, musculoskeletal and ocular alterations. Internally, he had developed two primary rhabdomyosarcomas. DNA samples of the SN, SLN, oral papillomatous hyperplasia and both rhabdomyosarcomas were analysed by Sanger sequencing. An HRAS c.37G>C mutation was detected in all of them. Skin and blood DNA were wild-type. Phacomatosis pigmentokeratotica (PPK) is characterized by the association of an SN with a papular naevus spilus and extracutaneous manifestations. Until recently, the aetiopathogenetic hypothesis of didymosis was accepted. However, in 2013 Groesser et al. proved the existence of an activating HRAS mutation as the cause of this syndrome. A higher incidence of cancer has been observed in germline RASopathies. Furthermore, up to 30% of human cancers show dysregulation of the Ras-Raf-MEK-ERK pathways. In our patient, an HRAS mosaic mutation explains not only the cutaneous but also the extracutaneous manifestations. To our knowledge this is the first described case of PPK in which the existence of an HRAS mosaic mutation is the confirmed cause of rhabdomyosarcoma. Furthermore, the HRAS c.37G>C mutation has never been related to any type of rhabdomyosarcoma. Mosaicisms could be underdiagnosed causes of childhood tumours. As dermatologists we stand in a privileged position of being able to detect these alterations.
Asunto(s)
Neoplasias Primarias Múltiples/genética , Nevo Pigmentado/genética , Proteínas Proto-Oncogénicas p21(ras)/genética , Rabdomiosarcoma/genética , Neoplasias Cutáneas/genética , Adolescente , Análisis Mutacional de ADN , Humanos , Masculino , Mosaicismo , Neoplasias Primarias Múltiples/patología , Nevo Pigmentado/patología , Rabdomiosarcoma/patología , Piel/patología , Neoplasias Cutáneas/patologíaRESUMEN
A 65-year-old pluripathological woman attended our hospital with a cutaneous eruption of sudden appearance after vancomycin treatment. She presented targetoid lesions affecting approximately 25-30% of her body surface, large erosions with mucosal lesions and positive Nikolsky sign. Under the initial clinical suspicion of toxic epidermal necrolysis (TEN), and considering the recent literature of successful use of etanercept in these cases, she was treated with a single dose of this antitumour necrosis factor (anti-TNF) agent. Subsequently, the exanthema progression stopped and resolution of the lesions happened in a few days. Later on, histopathology revealed a subepidermal blister with dense neutrophilic infiltrate and linear deposits of immunoglobulin A (IgA) on the dermoepidermal junction, allowing us to establish the diagnosis of drug-induced linear IgA dermatosis mimicking TEN. Linear IgA dermatosis can have severe clinical manifestations, even mimicking TEN, and can have high mortality, especially in drug-induced cases. We have not found any other report of linear IgA dermatosis treated with etanercept in the English literature. Anti-TNF medications could represent useful therapeutic alternatives in this dermatosis.
Asunto(s)
Fármacos Dermatológicos/uso terapéutico , Etanercept/uso terapéutico , Dermatosis Bullosa IgA Lineal/diagnóstico , Síndrome de Stevens-Johnson/diagnóstico , Anciano , Antibacterianos/efectos adversos , Diagnóstico Diferencial , Femenino , Humanos , Dermatosis Bullosa IgA Lineal/tratamiento farmacológico , Síndrome de Stevens-Johnson/tratamiento farmacológico , Resultado del Tratamiento , Vancomicina/efectos adversosRESUMEN
No disponible
Asunto(s)
Humanos , Síndrome de Sweet/diagnóstico , Eritema/clasificación , Activación Neutrófila , Enfermedades de la Piel/clasificación , ManoRESUMEN
No disponible