Bullous Lesions on the Acral Parts of the Limbs – Acral Peeling Skin Syndrome. Minireview

Česká verzia

Authors: E. Sticová ^1,2; M. Květoň ³
Authors place of work: 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 the journal: Čes-slov Derm, 98, 2023, No. 2, p. 105
Category:

Summary

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.

Keywords:

histopathology – acral peeling skin syndrome – TGM5 – bullous dermatosis

Zdroje

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.