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Table 1 Summary of genetic results and treatment reported in cases of JIA associated with HI

From: Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinical spectrum of the disease? Report of a child treated with etanercept and review of the literature

  Parents Genetics Treatment
Auriti et al, (2020) Case 1 [20] unrelated compoud heterozygosity c.4036delG and c.7444C > T genomic variants in the ABCA12 gene NSAIDs (ineffective); intra articular triamcinolone hexacetonide 1 mg/kg) at 2 years
Auriti et al, (2020) Case 2 [20] unrelated compound heterozygosity c.224 T > A, c6610C > T, C164G > A c.346G > T in ABCA12 gene; variant c.817G > A in heterozygosity in TGM1 gene Ibuprofen (effective, but relapse at discontinuation); repeated IACI and weekly MTX, at 2 months: clinical and radiological resolution of all joint except both ankles because of anterolateral compartments tendon synovitis
Clement et al (2007) [21]; Rajpopat et al (2011) [6]; Raghuvanshi S et al (2015) [22] unknown ABCA12 mutation NSAIDs (ineffective); Etoricoxib (temporarily effective); MTX (temporarily effective) Etanercept; total Hip arthroplasty by the age of 17* (see Rajpopat et al. Arch. Dermatol, June 2011); subsequently tried on adalimumab, MTX, then leflunomide. Reported worsening of skin condition and increased skin infections
Rajpopat et al (2011) [6], unknown Unknown NSAIDs for 1 year
Raghuvanshi S, et al (2015) [22], Rajpopat et al (2011) [6] unknown Unknown Intensive physiotherapy, splints and intra-articular injections.
Chan et al (2003) [23] unrelated Unknown Prednisolone. Ibuprofen was started concurrently, and maintained until she was 11 years of age, then replaced by rofecoxib. MTX was added at the age of 9 years.
  1. Abbreviations: NSAIDs Nonsteroidal anti-inflammatory drug, IACI Intra-Articular Corticosteroids Injection, MTX Methotrexate