Porter Rebecca M, Bravo Albert A, Smith Frances J D
J Am Podiatr Med Assoc. 2017 Sep;107(5):428-435. doi: 10.7547/16-043.
Plantar keratodermas can arise due to a variety of genetically inherited mutations. The need to distinguish between different plantar keratoderma disorders is becoming increasingly apparent because there is evidence that they do not respond identically to treatment. Diagnosis can be aided by observation of other clinical manifestations, such as palmar keratoderma, more widespread hyperkeratosis of the epidermis, hair and nail dystrophies, or erythroderma. However, there are frequent cases of plantar keratoderma that occur in isolation. This review focuses on the rare autosomal dominant keratin disorder pachyonychia congenita, which presents with particularly painful plantar keratoderma for which there is no specific treatment. Typically, patients regularly trim/pare/file/grind their calluses and file/grind/clip their nails. Topical agents, including keratolytics (eg, salicylic acid, urea) and moisturizers, can provide limited benefit by softening the skin. For some patients, retinoids help to thin calluses but may lead to increased pain. This finding has stimulated a drive for alternative treatment options, from gene therapy to alternative nongenetic methods that focus on novel findings regarding the pathogenesis of pachyonychia congenita and the function of the underlying genes.
掌跖角化病可由多种遗传突变引起。区分不同的掌跖角化病变得越来越重要，因为有证据表明它们对治疗的反应不尽相同。观察其他临床表现，如掌部角化病、更广泛的表皮角化过度、毛发和指甲营养不良或红皮病，有助于诊断。然而，掌跖角化病经常单独出现。本综述重点关注罕见的常染色体显性遗传性角蛋白疾病先天性厚甲症，其表现为特别疼痛的掌跖角化病，目前尚无特效治疗方法。通常，患者会定期修剪/削除/锉磨/打磨胼胝，并锉磨/打磨/修剪指甲。外用药物，包括角质剥脱剂（如水杨酸、尿素）和保湿剂，可通过软化皮肤提供有限的益处。对一些患者来说，维甲酸有助于使胼胝变薄，但可能会导致疼痛加剧。这一发现促使人们寻求替代治疗方案，从基因治疗到基于先天性厚甲症发病机制和相关基因功能新发现的非基因替代方法。
