PMC10308279_01
(A,B) Photographs of vasculitic-like cutaneous lesions affecting lower legs bilaterally; (C) pedigree with proband/affected individual indicated by arrow/black circle; (D) sanger electropherograms of FBN1 gene in family members with blue vertical line indicating deletion of c.1211delC resulting in frameshift mutation in proband (II-1) and reference sequence along top. T, thymine; C, cytosine; A, adenine.
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F1
An initial 4 x 2 cm lesion on the right lower leg had gradually increased in size, followed by scattered 1 cm lesions developing across the left leg and buttocks (Figures 1A,B). This targeted gene panel revealed a frameshift variant in the fibrillin 1 gene: FBN1, NM_000138, c.1211delC, p.P404Hfs*44 het. Sanger sequencing results of parental samples were consistent with the variant having arisen de novo in the proband (Figure 1D).