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

• Lama Altawil, MD,
• Hind Alshihry, MD,
• Huda Alfaraidi, MD,
• Amal Alhashem, MD,
• Ahmed Alhumidi, MD,
• Fowzan S. Alkuraya, MD

Affiliations

Lama Altawil, MD

Department of Dermatology and Dermatologic Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; Correspondence to: Lama Altawil, MD, Department of Dermatology, Prince Sultan Military Medical City, PO Box 7897, Riyadh 11159, Saudi Arabia.

Hind Alshihry, MD

Department of Dermatology and Dermatologic Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia

Huda Alfaraidi, MD

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia

Amal Alhashem, MD

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia

Ahmed Alhumidi, MD

Department of Pathology, King Saud University, Riyadh, Saudi Arabia

Fowzan S. Alkuraya, MD

Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia