五个汗孔角化病家系的临床和遗传特点

Clinical Manifestation and Heredity Feature in Five Pedigrees with Porokeratosis

目的 调查5个3种类型汗孔角化病家系的临床和遗传资料,进而分析3种类型汗孔角化病的临床表现和遗传特点。方法 当5个家系先证者的临床诊断明确后(主要诊断依据是特征性皮损和组织病理),现场调查家系资料,对每个家系的家庭成员进行相关临床检查和遗传调查。这5个家系包括3个播散性浅表光线性汗孔角化病(DSAP,共266人,其中患者100例)家系,1个散发性跖汗孔角化病及播散性汗孔角化病(PPPD,共90人,其中患者26例)家系和1个经典斑块型(PM,共34人,其中患者17例)家系。结果 5个家系都为常染色体显性遗传,都具有以边缘呈堤状隆起、中央萎缩的典型皮损,有角化不全细胞柱的病理变化。可分为3种亚型,每一类型各有自身特色。DSAP型是汗孔角化病的一种常见类型,疾病初发年龄较其他类型早(一般8-20岁),初发皮损在颜面部。PPPD型初发年龄为14-20岁,初发皮损为掌跖部或面部,初发皮损为掌跖部者病情较重,初发皮损为面部者病情较轻。PM型的初发年龄较迟,为20-30岁,初发皮损为前臂、手背、耳际和前额等非特定部位。PPPD型家系和PM型家系都有汗孔角化病不同类型的共存现象。结论 汗孔角化病是一种具有不同表现度的常染色体显性遗传病,具有多种临床类型和不同的遗传基础,不同临床类型间既存在一致性也存在差异性。

Objective To analyze the clinic features and hereditary characteristics of three subtypes of porokeratosis, namely disseminated superficial actinic porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata(PPPD) and porokeratosis of Mibelli (PM) in five pedigrees with porokeratosis. Meth-ods After clinical and pathological diagnosis, every living family member of the five pedigrees with poro-kerotosis was undergoing medical examination and genetics analysis. These five pedigrees consisted of three DSAP pedigrees (totally 266 family members including 100 patients), and one PPPD pedigree (composing of 90 members including 26 patients), one PM pedigree (cornposing of 34 members including 17 patients). Results While diagnosed as porokeratosis, the five pedigrees included three distinctive variants, each with its own clinic characteristics. The lesions was initiated on the face in DSAP subtype, on palms and the flex-ion side of fingers in PPPD subtype; or involving sun-covered areas in PM subtype. Of the three subtypes of porokeratosis, the onset age in DSAP subtype was earliest, usually about 8-20 years old, about 14-20 years old in PPPD subtype, but PM subtype about 20-30 years old. Conclusions As a group of autosomal dominant genodermatosis, porokeratosis presented various clinic variants with different genetic basis. And, different subtype could be seen in a same patient or same pedigree.