Bu yazıda, izole vulvar purpurası olan altı hastayı sunduk. Hiçbir hastada eşlik eden skleroz, atrofi ya da hipopigmentasyon gibi bulgular gözlenmedi. Hastaların tümü postmenopozal dönemde idi. Bu vaka serisinde, vulvada görülen purpurik lezyonların plazma hücreli vulvitin bir komponenti ya da yeni bir antite “mukozal poroz” olma olasılığını tartıştık. Vulvada görülen purpuranın, yaşlanmaya bağlı olarak deride tanımlanan dermatoporozun “mukozal” eşdeğeri olabileceği fikri ilginç olabilir. Senil purpura, dermatoporozun morfolojik bir bulgusu ise, belki de vulvar purpura mukozal porozun bir göstergesidir. Tüm hastalarda topikal östrojenle hızlı bir düzelme gözlenmesi bu teoriyi destekler niteliktedir.
Tinea corporis has rarely been reported in some locations such as on the breast skin as unilaterally. Herein, we present a case of bilateral tinea mammae, which has not been reported before in English language literature to our knowledge.
Introduction: Pompe disease (PD), glycogen storage disease Type II (GSD II), is an autosomal recessive inherited lysosomal storage disease caused by pathogenic variants in the GAA gene that encodes lysosomal acid α-glucosidadase (GAA) enzyme. The incidence of the disease varies from country to country. PD is mainly presents as two groups of phenotypes as infantile-onset Pompe disease (IOPD) and late-onset Pompe disease. Objective: The aim of this study is to discuss the molecular and clinical characteristics of infantile-onset Pompe disease (IOPD) and late-onset pompe disease (LOPD) followed-up in our center.
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