毛囊鱼鳞病、秃发、畏光综合征1例

A Case of Ichthyosis Follicularis with Atrichia and Photophobia Syndrome

患儿男,8个月,出生时即发现全身皮肤毛囊性丘疹、干燥脱屑、秃发。患儿出生后3个月余开始出现畏光,经常流泪,时有腹泻;全身毛发缺如,出汗正常;全身皮肤干燥脱屑粗糙,双上肢、腰臀部、大腿上段可见弥漫性菱形或多角形淡褐色鳞屑斑。双耳廓、头皮泛发钉突样毛囊角化过度,躯干散在少许钉突样突起;掌跖无明显角化异常,双手指甲轻微甲营养不良。组织病理提示鱼鳞病样改变。DNA直接测序示:MBTPS2基因存在错义变异位点c.1271C>T(p.Thr424Ile),患儿表现为半合子(男性X染色体),其母该位点为杂合子,其父该位点未见异常。诊断:毛囊鱼鳞病、秃发、畏光综合征。

An 8-month-old boy,who was born with universe hair follicle papules as well as skin dry desquamation and atrichia.After 3 months of birth,the child began to show photophobia,frequently weeping and had diarrhea.He had universal alopecia.The whole body skin was dry and desquamated,and diffuse rhombic or polygonal pale brown scales could be seen on the upper limbs,waist and hip,and upper thighs.Hyperkeratinization of nail-like hair follicles were found in bilateral auricles and scalp,and scattered nail-like protrusions in trunk.There was no obvious keratosis abnormality in the palms and soles,and the nails of both hands were slightly malnourished.Cardiopulmonary abdominal examination showed no abnormalities.Histopathology of skin suggested characteristics of ichthyosis.Gene detection showed missense mutation site exists of MBTPS2 gene c.1271C>T(p.Thr424Ile).The child presented with hemizygote(male X chromosome),whose mother was heterozygous,and their father had no abnormalities at this site.The diagnosis of ichthyosis follicularis with atrichia and photophobia syndrome was made.