■角化病Ⅰ型(SPPK-I)是一种罕见的常染色体显性遗传型的遗传性表皮松解性掌底角化病,这可能是由桥粒蛋白-1(DSG-1)的突变引起的。患者患有过度角化斑块和疼痛的掌足底裂隙。不幸的是,治疗选择包括水杨酸凡士林,外用皮质类固醇,光疗,类维生素A是低效的。
■遗传性掌底角化病(PPKs)是一组罕见的罕见皮肤病,伴有表皮掌底角化过度。桥粒蛋白1基因(DSG1)的突变,跨膜糖蛋白,已报道主要在条纹状PPK中。我们报告了1例I型掌plant纹状体角化病(SPPK-I)患者,具有特定的致病变异[c.349>T,p.(Arg117*)]在DSG1中。尽管有了更多的了解,PPK的有效治疗方案,包括SPPK-I,保持有限。
UNASSIGNED: Keratosis palmoplantaris striata type I (SPPK-I) is a rare autosomal-dominant type of hereditary epidermolytic palmoplantar
keratoderma, which can be caused by mutations in desmoglein-1 (DSG-1). Patients suffer from hyperkeratotic plaques and painful palmoplantar fissures. Unfortunately, treatment options including salicylic vaseline, topical corticosteroids, phototherapy, and retinoids are inefficient.
UNASSIGNED: Hereditary palmoplantar keratodermas (PPKs) represent a heterogeneous group of rare skin disorders with epidermal palmoplantar hyperkeratosis. Mutations in the desmoglein 1 gene (DSG1), a transmembrane glycoprotein, have been reported primarily in striate PPKs. We report a patient with keratosis palmoplantaris striata type I (SPPK-I) with a specific pathogenic variant [c.349C>T, p.(Arg117*)] in DSG1. Despite increased understanding, effective treatment options for PPK, including SPPK-I, remain limited.