Table 1.
Patient characteristics of 13 pediatric DITRA patients treated with biological agents
| Case | Age at onset/genetically confirmed diagnosis in months | sex | Mutation c (p) nomenclature | Zygosity | Previous treatment failures with nonbiological agents |
Author |
|---|---|---|---|---|---|---|
| 1 | 72/96 | M |
c.115 + 6 T > C (p.Arg10Argfs*) |
ho | CSA, MPP, ACI | [28] |
| 2 | “infancy”/“adolescence” | M |
c.115 + 6 T > C (p.Arg10Argfs*) |
ho | ACI, CSA, PUVA, PRED, MTX, APRE | [8] |
| 3 | 1/72 | M |
c.115 + 6 T > C (p.Arg10Argfs*) |
ho | CS, MTX, ACI,CSA | [15] |
| 4 | 0.5/6 | M |
c.80 T > C (p.Leu27Pro) |
ho | – | [31] |
| 5 | 2/36 | M |
c.80 T > C (p.Leu27Pro) |
ho | Topical CS, systemic RET | [5] |
| 6 | 41/48 | M |
c.80 T > C (p.Leu27Pro) |
ho | CS, MTX | [19] |
| 7 | 2/17 | F |
c.80 T > C (p.Leu27Pro) |
ho | CSA, ACI | [10] |
| 8 | 1/2 | M |
c. 80 T > C (p.Leu27Pro) |
ho | Topical CS, ACI | [6] |
| 9 | 1/60 | F |
c. 80 T > C (p.Leu27Pro) |
ho | CS, ACI, CSA | [3] |
| 10 | NA/"adolescence" | M |
c.368C > T (p.Thr123Met) |
ho | MTX, ACI | [24] |
| 11 | 84/NA | F |
c.142C > T/c.338C > T (pArg48Trp)/p.Ser113Leu) |
comp het | PRED, ACI, ISO, MTX, CSA | [26] |
| 12 | 7/60 | M |
c.227C > T/c.338C > T (p.Pro76Leu)/(pSer113Leu) |
comp het | MTX, CS | Patient reported here |
| 13 | 36/48 | M |
c.227C > T/c.338C > T (p.Pro76Leu/p.Ser113Leu) |
comp het | CS, CSA, THAL, DAP | [3] |
Abbr.:ACI-acitretin, APRE-apremilast, CS-corticosteroids, CSA-ciclosporine, DAP-dapsone, ho-homozygosity, het-heterozygosity, comp het-compound heterzygosity, ISO-isotretinoin MPP-methylprednisolone, MTX-methotrexate, NA-not available, PRED-prednisolone, PUVA-psoralen plus UVA, RET-retionoids, THAL-thalidomide.