Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutation

Lama Altawil; Hind Alshihry; Huda Alfaraidi; Amal Alhashem; Ahmed Alhumidi; Fowzan S Alkuraya

doi:10.1016/j.jdcr.2021.06.006

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. doi: 10.1016/j.jdcr.2021.06.006. eCollection 2021 Aug.

Authors

Lama Altawil¹, Hind Alshihry¹, Huda Alfaraidi², Amal Alhashem^{2

3}, Ahmed Alhumidi⁴, Fowzan S Alkuraya^{2

5}

Affiliations

¹ Department of Dermatology and Dermatologic Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
² Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
³ College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
⁴ Department of Pathology, King Saud University, Riyadh, Saudi Arabia.
⁵ Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

No abstract available

Keywords: 3-ketodihydrosphingosine reductase; EKVP4; HI, harlequin ichthyosis; KDSR; KDSR, 3-ketodihydrosphingosine reductase; PSEK; PSEK, progressive symmetrical erythrokeratoderma; Progressive symmetrical erythrokeratoderma; genodermatosis; harlequin; ichthyoses.

Publication types

Case Reports