A case of acral peeling skin syndrome

We present the case of an 8-month-old boy, from healthy and non-consanguineous parents. He presented palmoplantar blistering and superficial erosions since birth. There were no associated hair, teeth or nail problems. The erosions healed without scar formation ad no milia were observed. No skin biopsy was taken.

Genetic analysis showed a c.337G>T (p.Gly113Cys) mutation in the TGM5 (Transglutaminase 5) gene. Both his parents were carrier of this mutation. This gene is associated with autosomal recessive acral peeling skin syndrome. (1)

Acral peeling skin syndrome is a rare autosomal recessive disorder characterized by superficial peeling on the palmar, plantar and dorsal surfaces of the hands and feet. (2) Blisters are not painful and erosions heal spontaneously, sometimes with residual erythema but without scarring. Symptoms are exacerbated by heat, humidity, friction and exposure to water. (3) It can be present at birth or manifest in early childhood. A mutation in TGM5 is often found but other mutations have been also described. (1) In 2013 a mutation in CSTA gene, encoding cystatin A was described in a family with acral peeling skin syndrome. (4) Histologically, a separation between the stratum corneum and the stratum granulosum with no inflammation is seen. (2)

Acral peeling skin syndrome is probably underreported and often misdiagnosed as localized epidermolysis bullosa simplex. (5,6) Management consists of applying emollients and reducing trauma and maceration.

References

  1. Cassidy AJ, Van Steensel MAM, Steijlen PM, Van Geel M, Van Der Velden J, Morley SM, et al. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. American Journal of Human Genetics. 2005;77(6):909–17.
  2. Levy SD, Goldsmith LA. The peeling skin syndrome. Journal of the American Academy of Dermatology. 1982;7(5):606–13.
  3. Ruiz Rivero J, Campos Dominguez M, Parra Blanco V, Suárez Fernández R. Acral Peeling Skin Syndrome: A Case Report and Literature Review. Actas Dermo-Sifiliograficas [Internet]. 2016;107(8):702–4. Available from: http://dx.doi.org/10.1016/j.adengl.2016.07.010
  4. Krunic AL, Stone KL, Simpson MA, McGrath JA. Acral peeling skin syndrome resulting from a homozygous nonsense mutation in the CSTA gene encoding cystatin A. Pediatric Dermatology. 2013;30(5):87–8.
  5. Szczecinska W, Nesteruk D, Wertheim-Tysarowska K, Greenblatt DT, Baty D, Browne F, et al. Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations. British Journal of Dermatology. 2014;171(5):1206–10.
  6. Kiritsi D, Cosgarea I, Franzke CW, Schumann H, Oji V, Kohlhase J, et al. Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. Journal of Investigative Dermatology. 2010;130(6):1741–6.


Dr. A. Vanneste – Dr. I. Spanoudi-Kitrimi