长岛型掌跖角化病

Nagashima-typee palmoplantar keratoderma

患儿男,2岁,因周身红斑、丘疹伴瘙痒,掌跖部角化1年就诊。患儿双侧手掌、足底弥漫性对称性红斑,伴角化过度,表面可见厚层鳞屑及皲裂,皮疹延伸至手足背、手腕内侧、脚踝及跟腱区;躯干、四肢红斑、丘疹,散在抓痕,周身皮肤干燥粗糙基因检测:患儿SERPINB7基因纯合突变c.796C>T;患儿父母手足无类似皮疹,基因检测结果均为SERPINB7基因杂合突变c.796C>T。结合本例患儿临床表现和基因检测结果,诊断为长岛型掌跖角化病。

A 2-year-old boy presented with erythema,papules on the whole body and palmoplantar keratosis with itching for one yea.r.Gene mutation test showed a homozygous mutation in SERPINB7 gene of c.796C>T.The parents of the child had no similar rash on their hands and feet.Genetic testing showed heterozygous mutations in SERPINB7 gene c.796C>T.Combined with the clinical manifestations and genetic results of this child,a diagnosis of Nagashima-type palmo-plantar keratosis was made.