Acral peeling skin syndrome in two East-African siblings: case report

BMC Family Practice

John E Masenga²  Bernard Naafs¹  Baraka M Chaula²  Samson K Kiprono² 

[1] Stichting Tropendermatologie, Munnekeburen, The Netherlands;Department of Dermatology, Regional Dermatology Training Center at KCMC, Box 8332, Moshi, Tanzania

关键词: Siblings;    African;    Acral peeling skin syndrome;   

Others  :  855293
DOI  :  10.1186/1471-5945-12-2

 received in 2011-12-06, accepted in 2012-03-19,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Kiprono et al; licensee BioMed Central Ltd.

【 图 表 】

【 参考文献 】

• [1]Garcia EG, Carreno RG, Gonzalez MA, Reyes JJ: A crap peeling skin syndrome: a report of two cases. Ultrastruct Pathol 2005, 29:65-70.
• [2]Fox H: Skin shedding (keratolysis exfoliativa congenita): report of a case. Arch Dermatol Syph 1921, 3:202.
• [3]Wakade O, Adams B, Shwayder T: Acral peeling skin syndrome: a case of two brothers. Pediatr Dermatol 2009, 26(3):328-330.
• [4]Bowden PE: Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. J Invest Dermatol 2011, 131:561-564.
• [5]Levy S, Goldsmith L: The peeling skin syndrome. J Am Acad Dermatol 1982, 7:909-917.
• [6]Hashimoto K, Hamzavi I, Tanaka K, Shwayder T: Acral peeling skin syndrome. J Am Acad Dermatol 2000, 43:1112-1119.
• [7]Cassidy AJ, van Steensel MAM, Steijlen P, van Geel M, van der Velden J, Morley SM, Terrinoni A, Melino G, Candi E, McLean WHI: A homozygous missense mutation in TGM abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet 2005, 77:909-917.
• [8]Kharfi M, El Fekih N, Ammar D, Jaafoura H, Schwonbeck S, van Steensel MA, Fazaa B, Kamoun MR, Fischer J: A missense mutation in TGM causes acral peeling skin syndrome in a Tunisian family. J Invest Dermatol 2009, 129:2512-2515.
• [9]Candi E, Oddi S, Terrinoni A, Paradisi A, Ranalli M, Finazzi-Agro A, Melino G: Transglutaminase 5 cross-links loricrin, involucrin, and small proline-rich proteins in vitro. J Biol Chem 2001, 276:35014-35023.
• [10]Mevorah B, Frenk E, Saurat JH, Siegenthaler G: Peeling Skin Syndrome: a clinical, ultrastructural and biochemical study. Br J Dermatol 1987, 116:117-125.
• [11]Mizuno Y, Suga Y, Hasegawa T, Haruna K, Kohroh K, Ogawa H, Ikeda S, Shimizu T, Komatsu N: A case of peeling skin syndrome succesfully treated with topical calcipotriol. J Dermatol 2006, 33:430-432.