Burkhardt D, Schirren C G, Schuffenhauer S, Ullmann S, Schirren H
Abteilung für Pädiatrische Genetik der Kinderpoliklinik, Universität München.
Hautarzt. 1994 Apr;45(4):249-55. doi: 10.1007/s001050050069.
Dyskeratosis congenita (DC) is a very rare form of genodermatosis with variable manifestations, which mainly affects male patients. The main clinical symptoms are poikilodermia, nail dystrophy and leucoplakia; there are many other cutaneous and systemic symptoms. To avoid complications and improve the prognosis early diagnosis and regular close surveillance of the patients are important. We report on 13-year-old monozygotic twin brothers who, in addition to the typical symptoms, had increased vulnerability of the skin, scarring of the hands and atrophy of the oral mucosa as well as splenomegaly, pancytopenia with severe aplasia of bone marrow and aseptic necrosis of the hip. The two brothers had nearly synchronous clinical manifestation and progression. This paper reviews the clinical symptoms, pathogenesis, differential diagnosis and genetic aspects of DC.
先天性角化不良（DC）是一种非常罕见的遗传性皮肤病，表现多样，主要影响男性患者。主要临床症状为皮肤异色症、指甲营养不良和黏膜白斑；还有许多其他皮肤和全身症状。为避免并发症并改善预后，对患者进行早期诊断和定期密切监测很重要。我们报告了一对13岁的同卵双胞胎兄弟，他们除了有典型症状外，还存在皮肤易损性增加、手部瘢痕形成、口腔黏膜萎缩以及脾肿大、全血细胞减少伴严重骨髓发育不全和髋部无菌性坏死。这两兄弟临床表现和病情进展几乎同步。本文综述了DC的临床症状、发病机制、鉴别诊断和遗传学方面。
