Authors: E. Sticová 1,2; M. Květoň 3 Authors‘ workplace: Ústav patologie, 3. LF UK a FN Královské Vinohrady, přednosta prof. MUDr. Radoslav Matěj, Ph. D. 1; Kožní oddělení, Krajská nemocnice Liberec, primářka MUDr. Dana Frydrychová 2; Pracoviště klinické a transplantační patologie, Institut klinické a experimentální medicíny, přednosta MUDr. Luděk Voska 3 Published in: Čes-slov Derm, 98, 2023, No. 2, p. 105 Category:
The authors describe a case of a 30-year-old man with a long-standing history of thin-walled blisters on the skin of his hands and feet. Histopathology and molecular genetics confirmed the acral peeling skin syndrome. The authors provide an overview of current knowledge about this rare disorder and its differential diagnosis.
histopathology – acral peeling skin syndrome – TGM5 – bullous dermatosis
1. CAÑUETO, J., BUENO, E., RODRÍGUEZ-DIAZ, E. et al. Acral peeling skin syndrome resulting from mutations in TGM5. J. Eur. Acad. Dermatol. Venereol., 2016, 30(3), p. 477–480.
2. CASSIDY, A. J., VAN STEENSEL, M. A., STEIJLEN, P. M. et al. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am. J. Hum. Genet., 2005, 77, p. 909–917.
3. COULOMBE, P. A., KERNS, M. L., FUCHS, E. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. J. Clin. Invest., 2009, 119(7), p.1784 – 1793.
4. HAS, C. Peeling Skin Disorders: A Paradigm for Skin Desquamation. J. Invest. Dermatol., 2018, 138(8), p. 1689–1691.
5. KRUNIC, A. L., STONE, K. L., SIMPSON, M. A. et al. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatr. Dermatol., 2013, 30, p. 87–88.
6. MATHEW, R., OMOLE, O. B., RIGBY, J. et al. Adult - -onset acral peeling skin syndrome in a non-iden tical twin: a case report in South Africa. Am. J. Case Rep., 2014, 15, p. 589–592.
7. RAMSAY, M., NGCUNGCU, T., GRAYSON, W. Keratolytic Winter Erythema: An Update. Dermatopathology, 2019, 6(2), p. 126–132.
8. RUIZ RIVERO, J., CAMPOS DOMINGUEZ, M., PARRA BLANCO, V. et al. Acral Peeling Skin Syndrome: A Case Report and Literature Review. Actas Dermosifiliogr., 2016, 107(8), p. 702–704.
9. SARIKA, G. M., IBRAHIM, R., ZLOTOGORSKI, A. et al. Acral peeling skin syndrome resulting from a novel homozygous mutation in the CSTA gene-A report of two cases. Pediatr. Dermatol., 2021, 38(6), p. 1546–1548.
Don‘t have an account? Create new account
Enter the email address that you registered with. We will send you instructions on how to set a new password.
