Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas, Piracicaba, São Paulo, Brazil.
Oral Surg Oral Med Oral Pathol Oral Radiol. 2012 Feb;113(2):254-9. doi: 10.1016/j.tripleo.2011.08.013. Epub 2012 Jan 20.
We report the case of a 16-month-old boy who presented an exuberant erythematous gingival swelling and severe tooth mobility. Radiographic examination confirmed alveolar bone loss, and gingival biopsy showed epithelium containing numerous dyskeratotic cells. Because of feeding difficulties, the enlarged gingival tissue and involved teeth were removed. One year later, similar problems were encountered during the eruption of the deciduous second molars. The patient also exhibited papular skin lesions. Histopathologic features on biopsies of the skin and oral lesions were similar. The oral and cutaneous lesions presented by this patient were similar to those described by From et al. in 1978 in a father and son, reported as dyskeratosis benigna intraepithelialis mucosae et cutis hereditaria--the sole report in the English language. To avoid confusion with hereditary benign intraepithelial dyskeratosis (Witkop-von Sallmann syndrome) we have renamed the condition as mucocutaneous dyskeratosis with periodontal destruction and tooth loss.
我们报告了一例 16 个月大的男婴，其表现为明显的红斑性牙龈肿胀和严重的牙齿松动。影像学检查证实牙槽骨丧失，牙龈活检显示上皮含有许多非典型角化细胞。由于喂养困难，增大的牙龈组织和受累牙齿被切除。一年后，在乳磨牙萌出时再次出现类似问题。患儿还出现丘疹性皮肤病变。皮肤和口腔病变活检的组织病理学特征相似。该患者的口腔和皮肤病变与 1978 年 From 等人在一对父子中描述的病变相似，被报道为良性黏膜内上皮角化不良伴皮肤黏膜遗传性疾病——这是唯一一篇英文报道。为避免与遗传性良性上皮内角化不良（Witkop-von Sallmann 综合征）混淆，我们将该病重新命名为伴有牙周破坏和牙齿缺失的黏膜角化不良。
