Table 1.
Patient characteristics and clinical manifestations (n = 2)
Patient | Sex | Age (y) | Diagnosis | Skin at birth | Skin present | Hair | Atopic manifestation | Serum IgE (IU/mL) | BSA | IGA | TLSS | Age of improvement |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | 43 | Genetic | ED | ED | TI, short, easily broken | Rhinitis, food allergy | 22 | Total | 4 | E3I2L2 | None |
2 | F | 46 | Genetic | Other | ILC + ED | TI | Asthma, rhinitis, atop. dermatitis, food allergy | 159 | >50% | 2 | E1I1L0 | None |
3 | M | 21 | Genetic | ED | ILC + ED | TI, easily broken | Atop. dermatitis, food allergy | >5000 | Total | 4 | E3I3L2 | None |
4 | F | 9 | Genetic | Normal | ILC + ED | TI, short | Rhinitis, food allergy | 4524 | Total | 4 | E1I1L2 | None |
5 | F | 8 | Genetic | Other | ED | TI, short, easily broken | Asthma, rhinitis, food allergy | >5000 | Total | 4 | E3I3L3 | 1.5 y |
6 | F | 24 | Genetic | ED | ILC + ED | TI, short, easily broken | Rhinitis, food allergy | 4083 | >75% | 3 | E3I3L2 | 5 y |
7 | F | 22 | Genetic | ED | ILC + ED | TI | Food allergy | >5000 | Total | 3 | E2I2L2 | None |
8 | M | 24 | Genetic | ED + ILC | ILC | TI, easily broken | Asthma, rhinitis, atop. dermatitis, food allergy | >5000 | >75% | 3 | E2I2L2 | 12 y |
9 | M | 36 | Genetic | Normal | ILC | TI | None | >5000 | Total | 2 | E2I1L2 | None |
10 | F | 6 | Genetic | ED | ILC + ED | TI, short, easily broken | Asthma, rhinitis, atop. dermatitis, food allergy | Not available | >50% | 3 | E2I3L3 | 1 y |
11 | F | 3 | Genetic | ED | ILC + ED | TI | Atop. dermatitis, food allergy | >5000 | <50% | 3 | E2I1L1 | 1 y |
12 | M | 39 | Genetic | ED | ILC + ED | TI, short easily broken | Asthma, rhinitis, atop. dermatitis, food allergy | 3522 | >50% | 3 | E1I2L3 | 12 y |
13 | M | 43 | Genetic | ED | ILC | TI | Asthma, rhinitis, atop. dermatitis, food allergy | 136 | <25% | Not available | Missing | 14 y |
14 | M | 36 | Genetic | ED | ILC | TI, easily broken | Asthma, rhinitis, atop. dermatitis, food allergy | >5000 | >50% | 2 | E2I2L0 | 25 y |
Abbreviations: BSA, body surface area; ED, erythroderma; IGA, Investigator's Global Assessment; ILC, ichthyotic linearis circumflexa; TI, trichorrhexis invaginata; TLSS, total lesional sign score (see also Table S1).