From E, Philipsen H P, Thormann J
J Cutan Pathol. 1978 Jun;5(3):105-15. doi: 10.1111/j.1600-0560.1978.tb00947.x.
A congenital syndrome affecting the skin, oral mucosa and bulbar conjunctiva is reported in father and son. Skin lesions consisted of brownish papules with central keratotic plugs. Trauma was able to provoke lesions. In addition, changes of oral mucosa with premature loss of the teeth, and recurrent eye symptoms with conjunctivitis were present. Histological examination of specimens from skin, oral mucosa and conjunctiva revealed a uniform picture of dyskeratosis (single cell keratinization). The symptoms reported do not seem to fit into any of the existing muco-cutaneous syndromes. An autosomal dominant mutation is suggested as the cause of the disease.
据报道，父子二人患有一种影响皮肤、口腔黏膜和球结膜的先天性综合征。皮肤损害表现为带有中央角化栓的褐色丘疹。外伤可诱发皮损。此外，还存在口腔黏膜改变伴牙齿过早脱落，以及反复出现的眼部症状如结膜炎。对皮肤、口腔黏膜和结膜标本的组织学检查显示了一致的异常角化（单细胞角化）表现。所报道的症状似乎不符合任何现有的黏膜皮肤综合征。提示该病病因是常染色体显性突变。
