CAJ | 학술논문

患儿男,11岁.出生时发现全身无毛发,皮肤干燥、粗糙.出生后3个月出现畏光,反复发生上呼吸道感染,每月约2次,且经常腹泻.患儿身材矮小,视力差,眼结膜稍充血;角膜新生血管多、混浊,表面毛糙.听力无异常.牙齿形态无明显异常.全身毛发缺如,出汗正常,皮肤干燥,弥漫性菱形或多角形鳞屑斑,上肢鳞屑较厚,呈深褐色.腹部、腋部泛发钉突状毛囊突起.掌跖斑块状角化过度.指、趾甲均增厚,凹凸不平.双手展开时第3、4、5手指近端指间关节过伸.心、肺、肝、脾无异常.智力低下(语言智商52,操作智商<40,总智商<46).腹部皮肤组织病理学检查提示鱼鳞病改变.染色体核型分析:46,XY.诊断:毛囊鱼鳞病、秃发、畏光综合征.
환인남,11세.출생시발현전신무모발,피부간조、조조.출생후3개월출현외광,반복발생상호흡도감염,매월약2차,차경상복사.환인신재왜소,시력차,안결막초충혈;각막신생혈관다、혼탁,표면모조.은력무이상.아치형태무명현이상.전신모발결여,출한정상,피부간조,미만성릉형혹다각형린설반,상지린설교후,정심갈색.복부、액부범발정돌상모낭돌기.장척반괴상각화과도.지、지갑균증후,요철불평.쌍수전개시제3、4、5수지근단지간관절과신.심、폐、간、비무이상.지력저하(어언지상52,조작지상<40,총지상<46).복부피부조직병이학검사제시어린병개변.염색체핵형분석:46,XY.진단:모낭어린병、독발、외광종합정.
The patient is an 11-year old boy, who was born with universe alopecia as well as dry and coarse skin. When he was 3 months old, photophobia was noticed, and since then, upper respiratory tract infection had occurred twice a month complicated by frequent diarrhea. He had short stature with slight conjunc- rival congestion, corneal vascularization, opacity, coarseness and poor vision. No abnormality was found in the teeth, sweating ability, or hearing. He had universal alopecia; his skin was dry and rough with generalized rhombus- or polygon-shaped scaly patches. Particularly thick brown scales were observed on the upper limbs. Moreover, there were spiny follicular papules on the abdomen and axillae, hyperkeratosis of palm and sole, and dystrophic nails. Hyperextensibility of proximal interphalangeal joints of the third, fourth and fifth fingers was noticed. He also suffered from mental retardation, the verbal intelligence quotient being 52, performance intelligence quotient lower than 40, full intelligence quotient lower than 40, but no abnormality was found in the heart, lung, liver or spleen. Histopathology of skin on the abdomen suggested a change characteristic of ichthyosis. Chromosome analysis revealed a karyotype of 46, XY. This is the first diagnosed case of ichthyosis follicularis with atrichia and photophobia syndrome in China.