Laugier-Hunziker综合征1例及家系调查

Laugier-Hunziker syndrome:a case report and pedigree survey

报告1例Laugier-Hunziker综合征,并进行家系调查。先证者男,50岁。指(趾)甲色素沉着16年,颊黏膜色素沉着11年。无腹部症状,胃肠镜检查未发现息肉。组织病理检查示基底层黑素增加,真皮乳头色素失禁和少量噬黑素细胞。该家系4代19人中共有1人患本病,其余2人为疑似病例,表现为指(趾)甲不同程度的纵形色素沉着。

A case of familial Laugier-Hunziker syndrome and the pedigree survey are reported. A 50-year-old male presented with nails pigmentation for 16 years, macular pigmentation of the cheek oral mucosa for 11 years. There was no abdominal symptoms, gastroscopy and colonoscopy did not show any polyposis. Histopathological examination revealed hyperpigmentation of basal keratinocytes, pigmentary incontinence and scattered melanophages in the papillary dermis. The pedigree survey found one case suffered from Laugier-Hunziker syndrome and two cases suspected this syndrome among 19 members in the 4 generations of the family. The two suspected patients presented with longitudinal pigmentation to varying degrees on the fingernails and toenails.