Progressive symmetrical erythrokeratoderma associated with punctate palmoplantarkeratoderma

A Particular Case of Autosomal Recessive Progressive Symmetrical Erythrokeratodermia (PSEK) and a Review of the Literature.

“…Cutaneous lesions and their progression are comparable to our patient's, as are histologic findings of the biopsied lesions [2,3,5,[7][8][9][10][11][12][13][15][16][17]. However, our patient never developed thrombocytopenia.…”

“…In literature, 12 patients were treated with oral retinoids, 1 of which with etetrinate [4], 1 patient assumed isotretinoin [9], while 10 patients were treated with acitretin [2,3,5-8,10-13,18], as in our case, and one of them was then switched to isotretinoin [10]. Topical keratolytics were used in monotherapy in one patient 16 , while in association with systemic retinoids in 4 patients [2,4,8,13]. Other local treatments associated with systemic therapy were topical 0.025% tretinoin in two cases [2,11] and topical calcipotriol in one patient [9].…”

“…Due to its rarity, only case reports of PSEK are described in the literature (Table 1). Of the 21 patients described [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16]18], in one patient [10] the c.434A>G genomic variant in the KDSR gene, determining the p.Asn145Ser variant at the protein level, was found. Takeichi et al [18] described four patients who carried different mutations of the KDSR gene, with two clinically resembling Harlequin ichthyosis.…”