儿童表皮痣综合征1例

A case of epidermal nevus syndrome

报告儿童表皮痣综合征1例。患儿女,6周岁,脚趾畸形6年,右侧下肢、腰部、肩部、项部及左侧脚背部散在红斑、丘疹5年余。患儿出生时右侧第2、3脚趾畸形,第3、4脚趾向内侧弯曲,右侧脚踝出现红色丘疹,丘疹逐渐增多并蔓延至整个右侧脚踝及脚背部;出生后2个月左右,右侧腰部、肩部、项部及左侧脚背开始出现红色丘疹,红色丘疹逐渐增多并融合,伴有明显的瘙痒感。皮肤科检查:右侧腰部、腹股沟、下肢及脚踝、脚背部红色疣状丘疹,伴有黄色鳞屑,部分融合成片状或线状;右侧肩部及项部肤色、棕色、红色丘疹;左侧脚背部线状红色斑块,皮疹沿Blaschko线分布。右侧第2、3脚趾畸形,第3、4脚趾向内侧弯曲。皮损组织病理示:表皮角化过度,表皮突下延,棘层肥厚,真皮浅层血管周围见少量炎性细胞浸润。诊断:表皮痣综合征。

A 6-year-old girl presented with scattered erythema and papules on her right lower limb,waist,shoulder,neck and left instep for nearly 5 years and toes deformities for 6 years.The red papules appeared on the right ankle when the child was born and gradually increased and spread to the whole right ankle and instep.Two months after birth,the red papules also appeared on the right waist,shoulder,neck and left instep,the red papules gradually increased and fused,accompanied by significant itching.There was no significant efficacy after treated with retinoids,salicylic acids and antibiotics.Red,verrucous papules on the right waist,groin,lower extremities,ankles,and dorsum of the feet,accompanied by yellow scales,partially fused into flakes or lines.Skin color,brown,red papules on the right shoulder,neck and linear red plaques on the left dorsum of feet distributed along the Blaschko line.A biopsy was performed and the histopathological examination demonstrated that epidermal hyperplasia,marked elongation of rete ridges,acanthosis and mild inflammatory infiltration in the superficial dermis.Physical examination indicated that the second and third toes on the right side were deformed,and the third,fourth toes were bent inward.A diagnosis of epidermal nevus syndrome was established based on the clinical and histopathological findings.