RESUMO
Lipoid proteinosis (LP) is an autosomal recessive genodermatosis known to be caused by mutations in ECM1. Nonsense and missense mutations are the most common variations in LP. Up to date, only 6 splice site mutations have been observed. We report on a 26-year-old female LP patient from a Turkish consanguineous family carrying a novel homozygous splice site mutation in intron 8 of the ECM1 gene and summarize the current knowledge on ECM1 mutations and possible genotype-phenotype correlations.
Assuntos
Antineoplásicos/uso terapêutico , Biomarcadores Tumorais/análise , Imunoconjugados/uso terapêutico , Antígeno Ki-1/análise , Linfoma Anaplásico de Células Grandes/tratamento farmacológico , Neoplasias Cutâneas/tratamento farmacológico , Úlcera Cutânea/tratamento farmacológico , Biópsia , Brentuximab Vedotin , Humanos , Imuno-Histoquímica , Linfoma Anaplásico de Células Grandes/imunologia , Linfoma Anaplásico de Células Grandes/patologia , Masculino , Pessoa de Meia-Idade , Indução de Remissão , Neoplasias Cutâneas/imunologia , Neoplasias Cutâneas/patologia , Úlcera Cutânea/imunologia , Úlcera Cutânea/patologia , Fatores de Tempo , Resultado do TratamentoAssuntos
Azacitidina/uso terapêutico , Dermatite/tratamento farmacológico , Granuloma/tratamento farmacológico , Síndromes Mielodisplásicas/tratamento farmacológico , Idoso , Biópsia , Dermatite/diagnóstico , Dermatite/etiologia , Granuloma/diagnóstico , Granuloma/etiologia , Humanos , Masculino , Síndromes Mielodisplásicas/complicações , Síndromes Mielodisplásicas/diagnóstico , Indução de Remissão , Resultado do TratamentoRESUMO
Lichen sclerosus is a relatively common chronic inflammatory skin disease that predominantly affects the anogenital area. Accumulating evidence indicates that lichen sclerosus in women may be associated with other autoimmune disease, whereas this association seems to lack in male patients. We retrospectively evaluated the prevalence of autoimmune diseases and serological parameters indicative for autoimmunity in male and female patients with lichen sclerosus. Of the 532 patients (396 women, 136 men; 500 adults, 32 children; mean age: 49 years; range 1-89 years; female:male ratio 3:1), 452 (85%) had genital and 80 (15%) had extragenital disease. In women, lichen sclerosus was significantly more often associated with at least one autoimmune disease as compared to men (odds ratio [OR] 4.3, 95% confidence interval [CI] 1.9-9.6; p<0.0001). Moreover, female patients with lichen sclerosus had sinificantly more often associated autoimmune thyroid diseases (OR 4.7, 95% CI 1.8-11.9; p<0.0002), antithyroid-antibodies (OR 2.7, 95% CI 1.1-6.5; p=0.023), and elevated autoantibodies (OR 4.1, 95% CI 1.9-9.3; p<0.0001) as compared to male patients. This observation is suggestive for a different pathogenetic background in male and female patients.
