Patient characteristics and treatment modalities
| Characteristics . | n (%) . |
|---|---|
| Total | 9 (100) |
| Age at time of study, y | |
| Median (range) | 14.2 (1.9-18.5) |
| Sex | |
| Male | 2 (22) |
| Female | 7 (78) |
| Ethnicity | |
| Palestinian Arab | 4 (44) |
| Bedouin | 5 (56) |
| Germ line SLC29A3 mutations | |
| Homozygous c.1045delC | 3 (33) |
| Compound heterozygous c.1157G>A/c.1309G>A | 1 (11) |
| Homozygous c.1279G>A | 5 (56) |
| Clinical manifestations | |
| Cutaneous induration w/wo hyperpigmentation w/wo hypertrichosis | 9 (100) |
| Elevated CRP and ESR | 8 (89) |
| Short stature | 8 (89) |
| Sensorineural hearing loss | 6 (67) |
| Anemia | 5 (56) |
| Exocrine pancreatic insufficiency | 3 (33) |
| Type 1 IDDM | 3 (33) |
| Thrombocytopenia | 2 (22) |
| RDD–like tumor mass | 1 (11) |
| Retroperitoneal fibrosis with hydronephrosis and renal failure | 1 (11) |
| Acute arthritis | 1 (11) |
| Glomerulonephritis | 1 (11) |
| Cardiomyopathy | 1 (11) |
| Delayed puberty | 1 (11) |
| Joint deformities | 1 (11) |
| Treatment modalities | |
| Systemic corticosteroids | 5 (56) |
| Methotrexate | 3 (33) |
| Tocilizumab (anti–IL-6R) | 3 (33) |
| Trametinib (MEK inhibitor) | 1 (11) |
| Characteristics . | n (%) . |
|---|---|
| Total | 9 (100) |
| Age at time of study, y | |
| Median (range) | 14.2 (1.9-18.5) |
| Sex | |
| Male | 2 (22) |
| Female | 7 (78) |
| Ethnicity | |
| Palestinian Arab | 4 (44) |
| Bedouin | 5 (56) |
| Germ line SLC29A3 mutations | |
| Homozygous c.1045delC | 3 (33) |
| Compound heterozygous c.1157G>A/c.1309G>A | 1 (11) |
| Homozygous c.1279G>A | 5 (56) |
| Clinical manifestations | |
| Cutaneous induration w/wo hyperpigmentation w/wo hypertrichosis | 9 (100) |
| Elevated CRP and ESR | 8 (89) |
| Short stature | 8 (89) |
| Sensorineural hearing loss | 6 (67) |
| Anemia | 5 (56) |
| Exocrine pancreatic insufficiency | 3 (33) |
| Type 1 IDDM | 3 (33) |
| Thrombocytopenia | 2 (22) |
| RDD–like tumor mass | 1 (11) |
| Retroperitoneal fibrosis with hydronephrosis and renal failure | 1 (11) |
| Acute arthritis | 1 (11) |
| Glomerulonephritis | 1 (11) |
| Cardiomyopathy | 1 (11) |
| Delayed puberty | 1 (11) |
| Joint deformities | 1 (11) |
| Treatment modalities | |
| Systemic corticosteroids | 5 (56) |
| Methotrexate | 3 (33) |
| Tocilizumab (anti–IL-6R) | 3 (33) |
| Trametinib (MEK inhibitor) | 1 (11) |
CRP, C-reactive protein; ESR, erythrocyte sedimentation rate; IDDM, insulin–dependent diabetes mellitus.