dos Santos Vitorino Modesto, Loures Thiago Pereira, Rego João Daniel Bringel, Teixeira Christiane Aires, de Carvalho Kayursula Dantas, Nascimento Afonso Lucas Oliveira
Catholic University Medical Course, Brasília-DF, Brazil . AND Department of Internal Medicine, Armed Forces Hospital, Brasília-DF, Brazil.
Department of Internal Medicine, Armed Forces Hospital, Brasília-DF, Brazil.
Acta Med Iran. 2014;52(7):578-81.
Pachyonychia congenital (PC) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. A 39-year-old woman with PC type 1 (Jadassohn-Lewandowsky syndrome) and B-cell lymphoma is described. No similar disorders or parental consanguinity were found in her family. Typical features of PC developed since her early childhood and the diagnosis of B-cell lymphoma was established seven years ago, without a clear causal relation between these entities. Despite inherent limitations of a single case, this report may contribute to PC understanding.
先天性厚甲症（PC）是一种罕见的常染色体显性遗传性皮肤病，其特征为影响指甲和掌跖部位的角化过度、口腔黏膜白斑及囊性损害。本文描述了一名患有1型PC（雅-莱综合征）和B细胞淋巴瘤的39岁女性。在其家族中未发现类似疾病或近亲结婚情况。该患者自幼年起即出现PC的典型特征，7年前确诊为B细胞淋巴瘤，二者之间无明确因果关系。尽管单病例存在固有局限性，但本报告可能有助于增进对PC的了解。
