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Table 1 Clinical and histological features of included patients and biopsies, and results of the DNA extraction and sequencing

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