Pathogenic variants in the KDSR gene give rise to a Mendelian disorder called PERIOPTER syndrome. The disease is caused by a disruption in ceramide synthesis, with an impact on both skin and bone marrow. Patients with PERIOPTER syndrome show intermittent thrombocytopenia and/or associated anemia as well as disorders of keratinization. We present two siblings with identical compound heterozygous pathogenic variants in the KDSR gene, but with different clinical manifestations.
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Variable skin findings in two siblings with KDSR mutations manifesting in PERIOPTER syndrome.
Pediatr Dermatol
March 2023
Department of Dermatology, University Hospital Leuven, Leuven, Belgium.
Pathogenic variants in the KDSR gene give rise to a Mendelian disorder called PERIOPTER syndrome. The disease is caused by a disruption in ceramide synthesis, with an impact on both skin and bone marrow. Patients with PERIOPTER syndrome show intermittent thrombocytopenia and/or associated anemia as well as disorders of keratinization.
View Article and Find Full Text PDFFormation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mutations in patients.
Hum Mol Genet
March 2022
Lipid Pathobiochemistry Group, German Cancer Research Center (DKFZ), 69120 Heidelberg, Germany.
Functional skin barrier requires sphingolipid homeostasis; 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR gene may cause erythrokeratoderma variabilis et progressive-4, later specified as PERIOPTER syndrome, emphasizing a characteristic periorifical and ptychotropic erythrokeratoderma. We report another patient with compound heterozygous mutations in KDSR, born with generalized harlequin ichthyosis, which progressed into palmoplantar keratoderma.
View Article and Find Full Text PDFThe PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification.
J Eur Acad Dermatol Venereol
January 2019
Faculty of Medicine, Institute of Human Genetics, Medical Center, University of Freiburg, Freiburg im Breisgau, Germany.
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