Krøigård Anne Bruun, Hetland Liv Eline, Clemmensen Ole, Blaydon Diana C, Hertz Jens Michael, Bygum Anette
Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
Department of Clinical Pathology, Odense University Hospital, Odense, Denmark.
BMC Dermatol. 2016 Jun 3;16(1):7. doi: 10.1186/s12895-016-0044-3.
An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protein aquaporin 5 leading to defective epidermal-water-barrier function in the epidermis of the palms and soles.
We report the first Danish family diagnosed with diffuse non-epidermolytic palmoplantar keratoderma of Bothnian type in which fourteen individuals are potentially affected. The proband, a 36-year-old male had since childhood been affected by pronounced hyperhidrosis of the palms and soles along with palmoplantar keratoderma. He reported a very distinctive feature of the disorder, aquagenic wrinkling, as he developed pronounced maceration of the skin with translucent white papules and a spongy appearance following exposure to water. The patient presented recurrent fungal infections, a wellknown feature of the condition, but also periodic worsening with pitted keratolysis and malodour due to bacterial infections.
Palmoplantar keratoderma of Bothnian type, which may be associated with hyperhidrosis, is frequently complicated by fungal infections and may be complicated by Corynebacterium infections.
常染色体显性遗传的弥漫性非表皮松解性掌跖角化病，即博特尼亚型掌跖角化病，是由编码细胞膜水通道蛋白水通道蛋白5的AQP5基因突变引起的，导致手掌和脚底表皮的表皮水屏障功能缺陷。
我们报告了丹麦首个被诊断为博特尼亚型弥漫性非表皮松解性掌跖角化病的家族，其中有14人可能患病。先证者是一名36岁男性，自幼手掌和脚底多汗，并伴有掌跖角化病。他报告了该病一个非常独特的特征——水致性皱纹，即接触水后皮肤会出现明显浸渍，伴有半透明白色丘疹和海绵状外观。该患者反复出现真菌感染，这是该病的一个众所周知的特征，但也会因细菌感染导致点状掌跖角化病和异味周期性加重。
博特尼亚型掌跖角化病可能与多汗症有关，常并发真菌感染，也可能并发棒状杆菌感染。
