毛囊角化病 keratosis follicularis ; DARlER-WHlTEDISEASE ; Darier's Disease ; Darier Disease
鳞状毛囊角化 keratosis follicularis squamosa ; kertosis folliculris squmos
鳞状毛囊角化病 keratosis follicularis squamosa ; squamous follicular keratosis
倒转毛囊角化病 inverted follicular keratosis
大汗腺毛囊角化病 fox fordyce disease
倒置性毛囊角化病 inverted follicular keratosis
鳞状毛囊角化症 keratosis follicularis squamosa
皮肤毛囊角化 skin follicular cornification
增殖性毛囊角化病 Keratosis follicularis vegetans
孤立性毛囊角化不良瘤 Isolated dyskeratosis follicularis
先证者双肘膝关节毛囊角化性丘疹，足趾及跖部灶性胼胝样角化过度，20甲营养不良。
Proband also had special clinical feature including follicular hyperkeratosis on the elbows and knees, and onychodystrophy of 20 nails as well.
方法1例经组织病理结合临床诊断为毛囊角化病，采用聚合酶链反应和DNA测序方法对此家系进行基因突变情况检测。
Methods A patient was diagnosed as Darier s disease by pathology and clinical features. PCR and DNA sequencing were used to detect the gene mutation of the family.
其发病机理尚不完全清楚，主要包括：皮脂分泌过多、毛囊皮脂腺导管的过度角化、痤疮丙酸杆菌增殖、过度的免疫反应等。
The pathogenesis is not clear, including: excessive secretion of sebum, follicle sebaceous gland duct hyperkeratosis, Propionibacterium acnes proliferation and excessive immune reactions ect.
毛囊角化是一种慢性毛囊角化性疾病，一般在出现四肢伸侧的皮肤砂纸样粗糙或鸡皮样外观，可见分散的、针头大、尖顶、毛囊性丘疹，中心有角质栓，多为正常肤色或暗红色，一般无自觉症状，偶有轻度痒感。 毛囊角化症是相当常见的皮肤问题，它是由基因控制的一种常染色体遗传病，有50%的机会遗传给下一代，为常染色体显性遗传病，有家族倾向，也可因甲状腺功能不全或维生素A缺乏所致。毛周角化病的皮肤损害以正常皮色毛囊性尖顶丘疹为主，丘疹顶部有灰色角质栓塞。有时可见汗毛在中心穿出或蜷曲在内，剥去角质栓，可见微小的杯状凹陷，不久又有新的角质栓长出。皮损不融合，散在分布或簇集成群，似“鸡皮”外观。
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