From: Distinction between clonal and paraclonal cutaneous involvements in VEXAS syndrome
Skin biopsy specimen number | Treatment at the time of the biopsy | Clinical features | Histological pattern | DNA extraction of quality? | Sanger sequencing results |
---|---|---|---|---|---|
Patient #1 (male, 78 years-old, UBA1 mutation p.Met41Thr) | |||||
No. 1 | None | Erythema nodosum | Septal panniculitis | Yes | UBA1-wild type |
No. 2 | None | Erythema nodosum | Septal panniculitis | Yes | UBA1-wild type |
No. 3 | Cortancyl | Papules | Neutrophilic dermatosis | Yes | UBA1-mutated |
Patient #2 (male, 72 years-old, UBA1 mutation p.Met41Thr) | |||||
No. 1 | None | Papules | Leukocytoclastic vasculitis | No | NA |
Patient #3 (male, 63 years-old, UBA1 mutation p.Met41Leu) | |||||
No. 1 | Methotrexate | Papules, nodules | Leukocytoclastic vasculitis | Yes | UBA1-wild type |
No. 2 | Methotrexate, abatacept | Papules, purpura | Leukocytoclastic necrotizing vasculitis | Yes | UBA1-wild type |
No. 3 | Etanercept | Papules | Neutrophilic dermatosis | Yes | UBA1-mutated |
Patient #4 (male, 64 years-old, UBA1 mutation p.Met41Val) | |||||
No. 1 | None | Erythema nodosum | Septal panniculitis | No | NA |
No. 2 | None | Livedo | Subnormal | No | NA |
Patient #5 (male, 87 years-old, UBA1 mutation p.Met41Val) | |||||
No. 1 | None | Macules, purpura | Leukocytoclastic vasculitis | No | NA |