Fig. 1
From: Vasculitis in a patient with mevalonate kinase deficiency (MKD): a case report
A. Palpable purpura mainly affecting the lower limbs in a 2-year-old boy with Mevalonate Kinase Deficiency (MKD). B. Skin biopsy of this patient showed vasculitis affecting superficial and deep dermal small vessels in addition to vessels in the subcutis. There is a predominant mononuclear perivascular infiltrate composed of lymphocytes and macrophages, with nuclear dust. (Haematoxylin and Eosin stain, original magnification × 200). C. Pedigree of a 2-year-old boy with mevalonate kinase deficiency presenting with vasculitis (black square). Genetic testing revealed compound heterozygosity of c.928G > A (p.V310M) and c.1129G > A (p.V377I) variant in MVK gene in this patient. D. Sanger sequencing electropherogram of MVK c.928G > A (p.V310M) and c.1129G > A (p.V377I) mutations in the patient (II-1) and their heterozygosity in the parents. The c.928G > A mutation was inherited from the mother (I-1), and the c.1129G > A variant was inherited from the father (I-2)