Assuntos
Fibroma , Doenças da Unha , Unhas Malformadas , Neoplasias Cutâneas , Esclerose Tuberosa , Humanos , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/patologia , Fibroma/diagnóstico , Fibroma/cirurgia , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/cirurgia , Doenças da Unha/diagnóstico , Doenças da Unha/cirurgia , Doenças da Unha/patologiaAssuntos
Angiofibroma/patologia , Neoplasias Faciais/patologia , Inibidores de Proteínas Quinases/uso terapêutico , Esclerose Tuberosa/diagnóstico , Erupções Acneiformes/diagnóstico , Erupções Acneiformes/etiologia , Acrodermatite/diagnóstico , Acrodermatite/etiologia , Asteraceae/efeitos adversos , Dermatite Alérgica de Contato/imunologia , Doença de Fabry/diagnóstico , Dermatoses Faciais/patologia , Doença de Fox-Fordyce/diagnóstico , Doença de Fox-Fordyce/tratamento farmacológico , Infecções por HIV/complicações , Humanos , Interferons/uso terapêutico , Dermatopatias Vesiculobolhosas/etiologia , Serina-Treonina Quinases TOR/antagonistas & inibidores , Terminologia como Assunto , Esclerose Tuberosa/tratamento farmacológico , Esclerose Tuberosa/genética , Esclerose Tuberosa/patologia , Urticária/etiologia , Ceras/efeitos adversos , Xeroderma Pigmentoso/genética , Xeroderma Pigmentoso/terapia , Zinco/deficiênciaAssuntos
Mutação de Sentido Incorreto/genética , Esclerose Tuberosa/genética , Proteínas Supressoras de Tumor/genética , Adolescente , Povo Asiático , Criança , Pré-Escolar , Feminino , Humanos , Masculino , Esclerose Tuberosa/patologia , Proteína 1 do Complexo Esclerose Tuberosa , Proteína 2 do Complexo Esclerose Tuberosa , Adulto JovemRESUMO
BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous genodermatosis characterized by hamartoma formation in multiple organs. There are no definite cutaneous markers suggestive of central nervous system (CNS) involvement in TSC. AIMS: To study association of forehead plaque seen in tuberous sclerosis patients and CNS involvement in TSC. METHODS: This is a retrospective study of 15 cases of tuberous sclerosis in varying age groups - from 1.5 to 50 years. All the cases were thoroughly evaluated with detailed history; clinical examination; and relevant investigations like X-rays of chest, skull, hands and feet; ultrasound abdomen and computed tomography of brain. RESULTS: Out of the 15 cases, CNS involvement was seen in 8 cases. Seizures were present in 8 cases (53.33%) and mental retardation was seen in 6 cases (40%). Computerized tomography of brain revealed subependymal nodules (SENs) in eight cases (53.33%). In addition to SENs, subependymal giant cell astrocytomas and cortical tubers were seen in 2 cases each. Out of these 8 cases having CNS involvement, in 7 cases forehead plaque was observed. In 1 case, no forehead plaque was observed (X 2 = 1.07, P < 0.05). CONCLUSION: This study shows that there is a statistically significant relationship between the presence of a forehead plaque and CNS involvement in TSC. Therefore, forehead plaque may be considered as a novel cutaneous marker to know the CNS involvement in TSC at an early stage.
Assuntos
Encefalopatias/patologia , Testa/patologia , Pele/patologia , Esclerose Tuberosa/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Fibrose , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
Tuberous sclerosis is an autosomal dominant disease due to mutations in two genetic loci, characterized by hamartoma formation in the skin, nervous system, heart, kidney and other organs. Dyschromatosis universalis hereditaria is an autosomal dominant genodermatosis, characterized by small hyperpigmented and hypopigmented macules, uniformly distributed over the entire body. The face is rarely involved and the palms, soles and mucous membranes are usually spared. We report a case of tuberous sclerosis with dyschromatosis universalis hereditaria, with hyperpigmented and hypopigmented macules affecting the palms, soles and oral mucosa. To our knowledge, this is the first reported case of such an association.