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. 2021 Sep 8;157(11):1–6. doi: 10.1001/jamadermatol.2021.3344

Table. Patient Characteristics.

Patient No. First symptoms/delay between skin lesions and other symptoms Initial diagnosis Clinical presentation of skin involvements Histopathological classification of skin involvements (clinical appearance) Hematological disorder UBA1 variation (VAF)/other variated genes/karyotype abnormalities Fever/arthralgia RP Venous thromboembolism Pulmonary involvement
1 Skin/3 mo Eosinophilic pustular folliculitis

  • Tender red/violaceous papules

  • Firm erythematous purpuric plaques

  • Livedo racemosa

 ND (1 tender red/violaceous papule, 1 firm erythematous purpuric plaque)

  • MDS-MLD

  • MM

 c.T122C/NA/NK No Yes No Yes
2 Skin and venous thromboembolism Cutaneous PAN

  • Tender red/violaceous papules

  • Firm erythematous purpuric plaques

  • Livedo racemosa

  • ND (2 tender red/violaceous papules, 3 firm erythematous purpuric plaques)

  • PAN (tender subcutaneous nodules)

 MDS-SLD c.T122C/ZRSR2, BRCA, DNMT3A/Del(6q) Yes No Yes No
3 Skin/4 mo Insect bites Inflammatory edematous papules on neck and trunk ND (2 inflammatory edematous papules) CCUS c.A121C/NA/NK No Yes No No
4 Skin/3 y Cutaneous localization of myelodysplastic syndrome

  • Tender red/violaceous papules

  • Firm erythematous purpuric plaques

  • Inflammatory edematous papules on neck and trunk

  • Livedo racemosa

 ND (1 tender red/violaceous papule, 1 firm erythematous purpuric plaque)

  • ET

  • CCUS

 c.A121C/DNMT3A, CALR/-7 No No No No
5 Cytopenia/1 y SS Inflammatory edematous papules on neck and trunk ND (2 inflammatory edematous papules) MDS-MLD c.118-1G>C/NA/−Y No Yes Yes No
6 Venous thromboembolism/3 y SS

  • Tender red/violaceous papules

  • Firm erythematous purpuric plaques

 ND (2 tender red/violaceous papules)

  • MDS-MLD

  • MGUS

 c.T122C/NA/NK No No Yes No
7 Skin/6 y SS Tender red/violaceous papules ND (3 tender red/violaceous papules) MDS-MLD c.A121C (58%)/NA/Not documented Yes No No No
8 Venous thromboembolism/1 y Unspecified autoinflammatory disease Firm erythematous purpuric plaques ND (1 firm erythematous purpuric plaque) MDS-EB c.A121G (34%)/TP53/Not documented Yes No Yes Yes
Total

  • Skin (5/8)

  • Venous thromboembolism (3/8)

  • Cytopenia (1/8)

  • Tender red/violaceous papules (5/8)

  • Firm erythematous purpuric plaques (5/8)

  • Inflammatory edematous papules on neck and trunk (3/8)

  • Livedo racemosa (3/8)

  • ND (8/8)

  • PAN (1/8)

  • c.T122C (3/8)

  • c.A121C (3/8)

  • c.A121G (1/8)

  • c.118-1G>C (1/8)

 Yes (3/8) Yes (3/8) Yes (4/8) Yes (2/8)

Abbreviations: CCUS, clonal cytopenia of undetermined significance; ET, essential thrombocytopenia; MDS-EB, myelodysplastic syndrome with excess blasts; MDS-MLD, MDS with multilineage dysplasia; MDS-SLD, MDS with single-lineage dysplasia; MGUS, monoclonal gammopathy of undetermined significance; MM, multiple myeloma; NA, not applicable; ND, neutrophilic dermatosis; NK, normal karyotype; PAN, polyarteritis nodosa; RP, relapsing polychondritis; VAF, variant allele frequency; Y, y chromosome.