ABSTRACT
Introducción: La Poroqueratosis de Mibelli es una entidad rara en nuestro país, incluida en el grupo de las genodermatosis, por ser un trastorno hereditario de la queratinización. Es de gran interés para varias ramas de la medicina: genética, dermatología, medicina interna entre otras. Caso clínico: Se presenta un caso en una familia portadora de esta enfermedad genética con carácter autosómico dominante, se identificaron 7 miembros afectados en 3 generaciones, sin complicaciones. El propósito fue confirmado a través del estudio histopatológico. Conclusiones: Aunque no es un problema relevante en el municipio y no tiene complicaciones que comprometan la vida de los pacientes, sí pueden verse afectados según la localización de las lesiones, por lo que es de gran importancia el asesoramiento genético a los miembros de la familia para evaluar el riesgo genético, para poder realizar la profilaxis y control de los miembros afectados y su descendencia(AU)
Introduction: Porokeratosis of Mibelli is a rare condition in our country. It is included in the group of genodermatoses, being as it is an inherited keratinization disorder. This skin condition if of great interest to several medical specialties, such as genetics, dermatology, internal medicine, and others. Clinical case: A case is presented of a family carrying this genetic disease of an autosomal dominant nature. Seven affected members were identified in three generations without any complications. The purpose was confirmed via histopathological examination. Conclusions: Although the study condition is not a relevant problem in the municipality and does not have complications threatening the lives of patients, these may be affected depending on the location of the lesions. Therefore, genetic counseling is of great importance, so that family members may evaluate the genetic risk, perform the corresponding prophylactic actions, and control affected members and their offspring(AU)
Subject(s)
Humans , Male , Female , Skin Diseases/genetics , Porokeratosis/genetics , Porokeratosis/epidemiologySubject(s)
Adult , Humans , Male , Porokeratosis/diagnosis , Porokeratosis/epidemiology , Porokeratosis/geneticsABSTRACT
Porokeratosis is a specific disorder of keratinization that has five clinical types and shows a characteristic 'cornoid lamella' on histopathology. Malignant degeneration has been described in all forms of porokeratosis. To the best of our knowledge, this is the first Indian report of multicentric squamous cell carcinoma complicating porokeratosis.
Subject(s)
Abdomen , Adult , Carcinoma, Squamous Cell/epidemiology , Comorbidity , Hand Dermatoses/epidemiology , Humans , Male , Neoplasms, Multiple Primary/epidemiology , Porokeratosis/epidemiology , Skin Neoplasms/epidemiology , ThighABSTRACT
Os autrores apresentam caso de mulher com 56 anos portadora de poroceratose palmar e plantar disseminada, com lesöes da mucosa oral. Apesar de 46 anos de evoluçäo da doença e uma resposta negativa ao DNCB e testes intradérmicos para avaliaçäo da imunidade celular, näo apresenta cancerizaçäo de nenhuma lesäo cutâneo-mucosa. O uso de laser de CO resultou em regressäo das lesöoes irradiadas.