acral peeling skin syndrome in two east-african siblings case report肢端的剥落皮肤综合症在两个奇兄弟姐妹情况报告.pdfVIP

Kiprono et al. BMC Dermatology 2012, 12:2 /1471-5945/12/2 CASE REPORT Open Access Acral peeling skin syndrome in two East-African siblings: case report Samson K Kiprono1*, Baraka M Chaula1†, Bernard Naafs1,2† and John E Masenga1† Abstract Background: Acral peeling skin syndrome is a rare autosomal recessive genodermatosis due to a missense mutation in transglutaminase 5. The skin peeling occurs at the separation of the stratum corneum from the stratum granulosum. Case presentation: We present a case of two siblings who developed continuous peeling of the palms and soles from the first year of life. This peeling was more severe on the soles than palms and on younger sibling than elder sibling. Peeling is worsened by occlusion and sweating. Conclusions: Sporadic cases of Acral Peeling Skin Syndrome occur in African population. There is variability in time of presentation and clinical severity even within families. Keywords: Acral peeling skin syndrome, African, Siblings Background older sibling (Figure 2). It was associated with hyperhidro- Peeling Skin Syndrome is a rare autosomal recessive skin sis and became foul smelling when occluded. The peeling disorder characterized by an asymptomatic superficial of the skin was aggravated by sweating, prolonged expo- exfoliation due to separation of the stratum corneum [1]. sure to water and occlusion. There was neither associated It was first described in the early twentieth century [2] and pain nor pruritus. broadly classified into localized and generalized forms. They came from a family of five siblings. Their par- The generalized form is further subdivided into inflamma- ents and the other three siblings did not