Table of Content

Current Issue

Spring 2019, Vol. 27 No. 1

Hong Kong J. Dermatol. Venereol. (2019) 27, 31-35


Case Report

Papillon-Lefevre syndrome: a rare case report and review of literature

白比隆─雷佛利症候群:一宗罕見病例報告及文獻綜述

D Vupperla, P Elaprolu, FT Taj

Abstract

Papillon-Lefevre syndrome (PLS) is a rare genetically inherited autosomal recessive disorder. A 34-year-old woman presented with complaints of diffuse hyperkeratosis with scaling over both palms and soles with sclerodactyly of all fingers, increased sweating, loss of teeth with periodontitis and recurrent skin infections. History of first-degree consanguinity among the patients was present. Loss of teeth can be prevented by prompt administration of oral retinoids during the eruption of permanent teeth. Despite meticulous attention, many patients are still identified with PLS. Therefore, clinicians should be aware of this entity to avoid delay in diagnosis.

白比隆−雷佛利症候群是一種罕見的遺傳性常染色體隱性遺傳病。一名34歲女性患有瀰漫性角化過度,在雙側手掌和足底出現鱗屑,並且所有手指指端硬化,有出汗增多、牙周炎和牙齒脫落及復發性皮膚感染。病患者中有第一血親病史。通過在恆齒萌牙階段及時施用口服類維生素A,可以防止牙齒脫落。儘管小心謹慎地診治,許多患者仍未能被識別為白比隆−雷佛利症候群。因此,醫生應該要知道有這種病,以避免延誤診斷。

Keywords: Cathepsin C, hyperkeratosis, Palmoplantar keratoderma, Periodontitis, Pyoderma

關鍵詞: 組織蛋白酶C、角化過度、掌蹠角化病、牙周炎、膿皮病