Maj Joanna, Cisło Maria, Wasik-Kuprianowicz Agnieszka, Plomer-Niezgoda Ewa
Klinika Dermatologii AM we Wrocławiu.
Pol Merkur Lekarski. 2004 Jun;16(96):568-70.
Darier disease (follicular dyskeratosis) is a rare genodermatosis determined by an autosomal dominant gene with variable penetration, characterized by a symmetrical eruption of hyperkeratotic papules with predilection to the seborrheic areas of the body. Unilateral, focal form is the one of the rare type of the Darier disease. Two clinical and genetical phenotypes of the segmental Darier disease have been recently reported: type 1--in which the skin outside of the localized manifestation is normal and type 2--showing a segmental affection in combination with diffuse skin involvement. The patient with type 1 segmental Darier disease is presented because of rare occurrence, diagnostic and therapeutic difficulties as well. The first keratotic papules on the left side of his trunk appeared at the age 14. The correct diagnosis based on clinical and histological picture has been established 38 years latter.
达里埃病（毛囊角化病）是一种罕见的遗传性皮肤病，由具有可变外显率的常染色体显性基因决定，其特征为对称出现的角化过度丘疹，好发于身体的皮脂溢出部位。单侧、局限性形式是达里埃病的罕见类型之一。最近报道了节段性达里埃病的两种临床和遗传表型：1型——局限性表现以外的皮肤正常；2型——表现为节段性病变并伴有弥漫性皮肤受累。1型节段性达里埃病患者因发病率低以及诊断和治疗困难而被报道。他躯干左侧的首批角化丘疹出现在14岁时。38年后根据临床和组织学表现才确立了正确诊断。
