A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature.
Abstract: Case report A A 10-year-old female patient born from non-consanguineous healthy parents after a regular pregnancy developed, at the age of 3 months, diffuse hyperkeratotic, pruritic plaques on her face, forearms, wrists, perineal and sacral regions in a mosaic pattern distribution, growing progressively. Laboratory and instrumental investigations and a skin biopsy were performed, and both the patient and her parents underwent genetic testing. Histology described acanthosis and orthokeratotyc hyperkeratosis in a basket-weave pattern. Genetic investigations revealed, in our patient, a pathogenic paternal variant and the deletion of the corresponding maternal allele associated with the autosomal recessive form of Progressive Symmetrical Erythrokeratodermia (PSEK).
Discussion A review of the literature showed similarities and differences with this case. Diagnosis of autosomal recessive PSEK was made, uniquely associated in our patient with another genetic mutation of the KRT2 gene. Systemic retinoids and topical emollients were started, leading to a significant reduction of hyperkeratosis and a progressive resolution of the lesions. The most interesting feature was their further evolution, with the onset of sparing areas, suggestive of revertant mosaicism, although not confirmed by histology.
Conclusion This is the first case of Progressive Symmetrical Erythrokeratodermia associated with both the c.879G>A genomic variant in the KDSR gene and the p.Ala517Gly genetic variant of the KRT2 gene. A clinical picture was suggestive of revertant mosaicism observed in the patient, which, to date, has never been described in the literature. Systemic therapy with oral retinoids in association with topical keratolytics.
Boyden LM, Vincent NG, Zhou J et al. Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma. Am J Hum Genet. 2017 Jun 1;100(6):978-84. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5473720/
Guaraldi Bde M, Jaime TJ, Guaraldi Rde M et al. Eritroqueratodermia simétrica progressiva–Relato de caso. An Bras Dermatol. 2013;88(1):109–12. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699941/
Asha GS, Lakshmi DV, Shilpa K et al. Late Onset Progressive Symmetric Erythrokeratoderma with Pseudo Ainhum. Indian J Dermatol. 2016 Jul-Aug;61(4):448-50.
Raza N, Ejaz A, Zill-e-Humayun. Progressive symmetrical erythrokeratoderma with perioral involvement. J Coll Physicians Surg Pak. 2006 Nov;16(11):729-31. https://pubmed.ncbi.nlm.nih.gov/17052427/
Chu DH, Arroyo MP. Progressive and symmetric erythrokeratoderma. Dermatol Online J. 2003 Oct;9(4):21. https://pubmed.ncbi.nlm.nih.gov/14594594/
Arroyo MP. A young boy with symmetric hyperkeratotic plaques: progressive symmetric erythrokeratoderma (PSEK). J Drugs Dermatol. 2002 Dec;1(3):326-8. https://pubmed.ncbi.nlm.nih.gov/12851993/
Akman A, Masse M, Mihci E et al. Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations. Clin Exp Dermatol. 2008 Aug;33(5):582-4. https://pubmed.ncbi.nlm.nih.gov/18462442/
Gupta LK, Saini P, Khare AK et al. Progressive symmetric erythrokeratoderma: report of an Indian family. Int J Dermatol. 2014 May;53(5):e317-9. https://pubmed.ncbi.nlm.nih.gov/24601895/
Bilgin I, Bozdağ KE, Uysal S et al. Progressive symmetrical erythrokeratoderma - response to topical calcipotriol. J Dermatol Case Rep. 2011 Sep 21;5(3):50-2. https://pubmed.ncbi.nlm.nih.gov/22187580/
Altawil L, Alshihry H, Alfaraidi H et al. Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation. JAAD Case Rep. 2021 Jun 12; 14:55-58. https://pubmed.ncbi.nlm.nih.gov/34277909/
Yan HB, Zhang J, Liang W et al. Progressive symmetric erythrokeratoderma: report of a Chinese family. Indian J Dermatol Venereol Leprol. 2011 Sep-Oct;77(5):597-600. https://pubmed.ncbi.nlm.nih.gov/21860161/
Prabhu S, Shenoi SD, Pai SB et al. Progressive and symmetric erythrokeratoderma of adult onset: A rare case. Indian Dermatol Online J. 2010 Jul;1(1):43-5. https://pubmed.ncbi.nlm.nih.gov/23130195/
Tiwary AK, Kumar P. Progressive Symmetrical Erythrokeratoderma Associated with Punctate Palmoplantarkeratoderma. Indian Dermatol
Online J. 2019 Mar-Apr;10(2):183-6. https://pubmed.ncbi.nlm.nih.gov/30984600/
Guo BR, Sun LD, Cui Y et al. Progressive symmetrical erythrokeratoderma: report of two Chinese families and evaluation for mutations in the loricrin, connexin 30.3, and connexin 31 genes. Clin Exp Dermatol. 2013 Dec;38(8):925-7. https://pubmed.ncbi.nlm.nih.gov/23678955/
Sunil G, Usha K. Symmetrical progressive erythro-keratoderma. Indian J Dermatol Venereol Leprol. 1999 Jul-Aug;65(4):191-2. https://ijdvl.com/symmetrical-progressive-erythro-keratoderma/
Ghorpade A, Ramanan C. Progressive symmetric erythokeratoderma. Indian J Dermatol Venereol Leprol. 1995 Mar-Apr;61(2):116-7. https://pubmed.ncbi.nlm.nih.gov/20952910/
Agrawal US, Jain KS, Kuldeep CM. Symmetrical Progressive Erythrokeratoderma. Indian J Dermatol Venereol Leprol. 1987 Nov-Dec;53(6):360-1. https://pubmed.ncbi.nlm.nih.gov/28145356/
Takeichi T, Torrelo A, Lee JYW et al. Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia. J Invest Dermatol. 2017 Nov;137(11):2344-53. https://pubmed.ncbi.nlm.nih.gov/28774589/
Bariana TK, Labarque V, Heremans J et al. Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation, causing thrombocytopenia. Haematologica. 2019 May;104(5):1036-45. https://pubmed.ncbi.nlm.nih.gov/30467204/
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