case_images: PMC10061095_01
case_images: RuV infection-induced cutaneous granulomatous dermatitis. Erythematous plaques on cheeks at visit (A) and after 10-month follow-up (B). (C) Dense lymphohistiocytic infiltrate in the dermis forming a nodule. (D) Necrotizing granulomas in the deep dermis.
case_images: fgene-14-1115027-g001.jpg
case_images: PMC10061095_01_fgene-14-1115027-g001.jpg
case_images: F1
case_images: A 6-year-old girl presented with facial erythematous plaques that had gradually spread into her limbs over the course of a year (Figure 1A). Multiple biopsies of the plaques revealed necrotizing granulomatous inflammation (Figure 1D). Dense lymphocyte infiltrate with lymphoid follicle formation in the dermis with adnexal involvement was also found in a biopsy from the left upper arm (Figure 1C). An increase in the number and size of plaques on her face and limbs had been noted (Figure 1B), and the plaques had remained asymptomatic.
case_images: Timeline of the patient's care.
case_images: fgene-14-1115027-g002.jpg
case_images: PMC10061095_01_fgene-14-1115027-g002.jpg
case_images: F2
case_images: The timeline of the patient's care is summarized in Figure 2.
case_images: Sanger sequence of this family. Chromatograms show that her father is heterozygous for c.352G>T (p.G118X), and her mother is heterozygous for c.328C>G (p.L110V). The proband shows a compound heterozygote of these mutations.
case_images: fgene-14-1115027-g003.jpg
case_images: PMC10061095_01_fgene-14-1115027-g003.jpg
case_images: F3
case_images: Considering RuV-associated granulomas are rare and almost exclusively occur in the context of immune deficiency, and the patient had signs of immunodeficiency, a whole- exome sequencing was performed, and heterozygous mutations in DCLRE1C gene as c.352G>T (p.G118X) and c.328C>G (p.L110V) were detected (Figure 3).