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Published in: BMC Dermatology 1/2012

Open Access 01-12-2012 | Case report

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

Authors: Samson K Kiprono, Baraka M Chaula, Bernard Naafs, John E Masenga

Published in: BMC Dermatology | Issue 1/2012

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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.
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Literature
1.
go back to reference Garcia EG, Carreno RG, Gonzalez MA, Reyes JJ: A crap peeling skin syndrome: a report of two cases. Ultrastruct Pathol 2005, 29: 65–70. 10.1080/01913120590909867CrossRefPubMed Garcia EG, Carreno RG, Gonzalez MA, Reyes JJ: A crap peeling skin syndrome: a report of two cases. Ultrastruct Pathol 2005, 29: 65–70. 10.1080/01913120590909867CrossRefPubMed
2.
go back to reference Fox H: Skin shedding (keratolysis exfoliativa congenita): report of a case. Arch Dermatol Syph 1921, 3: 202. Fox H: Skin shedding (keratolysis exfoliativa congenita): report of a case. Arch Dermatol Syph 1921, 3: 202.
3.
go back to reference Wakade O, Adams B, Shwayder T: Acral peeling skin syndrome: a case of two brothers. Pediatr Dermatol 2009,26(3):328–330. 10.1111/j.1525-1470.2009.00917.xCrossRefPubMed Wakade O, Adams B, Shwayder T: Acral peeling skin syndrome: a case of two brothers. Pediatr Dermatol 2009,26(3):328–330. 10.1111/j.1525-1470.2009.00917.xCrossRefPubMed
4.
go back to reference Bowden PE: Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. J Invest Dermatol 2011, 131: 561–564. 10.1038/jid.2010.434CrossRefPubMed Bowden PE: Peeling skin syndrome: genetic defects in late terminal differentiation of the epidermis. J Invest Dermatol 2011, 131: 561–564. 10.1038/jid.2010.434CrossRefPubMed
5.
go back to reference Levy S, Goldsmith L: The peeling skin syndrome. J Am Acad Dermatol 1982, 7: 909–917.CrossRef Levy S, Goldsmith L: The peeling skin syndrome. J Am Acad Dermatol 1982, 7: 909–917.CrossRef
6.
go back to reference Hashimoto K, Hamzavi I, Tanaka K, Shwayder T: Acral peeling skin syndrome. J Am Acad Dermatol 2000, 43: 1112–1119. 10.1067/mjd.2000.103645CrossRefPubMed Hashimoto K, Hamzavi I, Tanaka K, Shwayder T: Acral peeling skin syndrome. J Am Acad Dermatol 2000, 43: 1112–1119. 10.1067/mjd.2000.103645CrossRefPubMed
7.
go back to reference 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. 10.1086/497707CrossRefPubMedPubMedCentral 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. 10.1086/497707CrossRefPubMedPubMedCentral
8.
go back to reference 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. 10.1038/jid.2009.118CrossRefPubMed 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. 10.1038/jid.2009.118CrossRefPubMed
9.
go back to reference 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. 10.1074/jbc.M010157200CrossRefPubMed 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. 10.1074/jbc.M010157200CrossRefPubMed
10.
go back to reference Mevorah B, Frenk E, Saurat JH, Siegenthaler G: Peeling Skin Syndrome: a clinical, ultrastructural and biochemical study. Br J Dermatol 1987, 116: 117–125. 10.1111/j.1365-2133.1987.tb05799.xCrossRefPubMed Mevorah B, Frenk E, Saurat JH, Siegenthaler G: Peeling Skin Syndrome: a clinical, ultrastructural and biochemical study. Br J Dermatol 1987, 116: 117–125. 10.1111/j.1365-2133.1987.tb05799.xCrossRefPubMed
11.
go back to reference 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. 10.1111/j.1346-8138.2006.00102.xCrossRefPubMed 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. 10.1111/j.1346-8138.2006.00102.xCrossRefPubMed
Metadata
Title
Acral peeling skin syndrome in two East-African siblings: case report
Authors
Samson K Kiprono
Baraka M Chaula
Bernard Naafs
John E Masenga
Publication date
01-12-2012
Publisher
BioMed Central
Published in
BMC Dermatology / Issue 1/2012
Electronic ISSN: 1471-5945
DOI
https://doi.org/10.1186/1471-5945-12-2

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