University of Nevada School of Medicine, Reno, NV, USA.
State University of New York Downstate Medical Center, Brooklyn, NY, USA.
Am J Clin Dermatol. 2016 Feb;17(1):63-70. doi: 10.1007/s40257-015-0157-1.
Mal de Meleda is a rare autosomal recessive palmoplantar keratoderma (PPK) disease with an estimated prevalence of 1:100,000. Clinically, the onset of the disease is typically soon after birth and features a transgrediens (plantar surface progressing to dorsal surface) and progrediens (worsening with age) pattern of hyperkeratosis of the palms and soles. The disease can feature other potentially disfiguring effects on the hands and feet that can severely impact function. Histologically, the lesions show hyperkeratosis and acanthosis without epidermolysis in the epidermis, accompanied by perivascular lymphocytic infiltrate in the dermis. Secreted LY6/urokinase-type plasminogen activator receptor (uPAR)-related protein-1 (SLURP-1) genetic mutations are implicated in Mal de Meleda. SLURP-1 is involved in mediation of inflammation as well as keratinocyte apoptosis regulation. Because the disease is so rare, there are no set guidelines for management, but the accepted approach tends to include oral acitretin plus topical keratolytic therapy. Genetic counseling should also be offered. This focused review highlights the clinical and histological features, differential diagnoses, genetic background, and the current thoughts on management of Mal de Meleda.
遗传性进行性掌跖角化病是一种罕见的常染色体隐性掌跖角化病（PPK），估计患病率为 1:100000。临床上，该病通常在出生后不久发病，表现为过度角化（足底表面向背侧表面进展）和进行性加重（随年龄恶化）模式，手掌和足底过度角化。该病在手和脚上还可能出现其他潜在的毁容效应，严重影响功能。组织学上，病变表现为表皮无表皮松解的过度角化和棘皮病，真皮伴有血管周围淋巴细胞浸润。分泌型 LY6/尿激酶型纤溶酶原激活物受体（uPAR）相关蛋白-1（SLURP-1）基因突变与遗传性进行性掌跖角化病有关。SLURP-1 参与炎症的介导以及角质形成细胞凋亡的调节。由于该病非常罕见，因此没有固定的管理指南，但公认的方法倾向于包括口服阿维 A 加局部角质松解治疗。还应提供遗传咨询。本重点综述强调了遗传性进行性掌跖角化病的临床和组织学特征、鉴别诊断、遗传背景以及目前对该病管理的思考。
