Table 2. Patient clinical characteristics.
| ID | Sex | Nucleotide change | Type of medication | TBSA (%) | Affected skin areas | Reduction in quality of life? | General skin symptoms | Factors that worsens disease |
|---|---|---|---|---|---|---|---|---|
| 1 | F | |||||||
| 2 | M | c.2840T>G | Moisturizer | 18 | Face, scalp, trunk, only mildly in skin folds, mild elsewhere | Yes | Itch | Friction, heat, friction, stress, sun |
| 3 | F | Topical | Back, shoulders, trunk | No | Itch | Heat, sun | ||
| 4 | M | c.1762-3_1767del | Acitretin | 4 | Face, scalp, trunk, only mildly in skin folds | No | Itch | Heat, stress, sun |
| 5* | M | c.2172G>A | Topical | 1 | Trunk, shoulders, back | No | Itch | Heat, stress, sun |
| 6 | M | c.2840T>G | Acitretin | 10 | Back, shoulders, trunk | No | Itch | Stress |
| 7† | F | c.1675C>T | Acitretin | 1 | Small defined area only on one side | No | Itch | Heat, sun |
| 8 | F | c.220-18G>A | Acitretin | 5 | Trunk | No | NA | Sun |
| c.2843_2844delAT | ||||||||
| 9† | M | c.1675C>T | ||||||
| c.2172G>A | ||||||||
| 10 | F | c.1216C>T | Isotretinoin | 6 | Trunk | Yes | Itch | Heat, sun |
| c.2172G>A | ||||||||
| 11 | F | c.2608-2A>C | Acitretin | 17 | Hands, feet | Yes | Itch, pain | Friction, heat, stress, sun |
| 12 | F | c.2608-2A>C | Acitretin | 12 | Face, folds, trunk | Yes | Itch | Friction, heat, stress, sun |
| 13 | F | c.803G>T | Acitretin | 18 | Face, hands, scalp | Yes | Odour, pain | Friction, heat, menstruation, pregnancy, stress, sun |
| c.1386_1390delTTCTA | ||||||||
| 14 | M | c.922_945del | Acitretin | 14 | Folds, only mild elsewhere | No | Itch | Heat, stress, sun |
| 15** | F | c.79delG | None | 2 | Folds, only mild elsewhere | Yes | Itch, odour, pain | Friction, heat, stress, sun |
| 16** | F | c.79delG | Acitretin | 12 | Entire body | Yes | Itch, odour, pain | Friction, heat, stress |
| 17 | F | c.2945C>T | Laser | 1 | Face, scalp, trunk, only mildly in skin folds | Yes | Itch, odour | Heat |
| 18 | F | c.2294C>T | Acitretin | 12 | Lower back, knee folds, waist | No | Itch | Heat |
| 19 | F | c.220-18G>A | Acitretin | 6 | Back, hands, feet, thighs, trunk | Yes | Itch, odour, pain | Heat, stress, sun |
| c.1825_1827delTCC | ||||||||
| 20 | F | c.545-12C>G | Acitretin | 10 | Face, scalp, trunk, only mildly in skin folds | Yes | Itch, pain | Friction, heat, menstruation, stress |
| c.2797G>A | ||||||||
| 21 | F | c.2385T>G | Acitretin | 22 | Entire body, also pharynx | Yes | Itch, odour, pain | Friction, heat, stress, sun |
| 22* | F | c.1720G>T | Isotretinoin | 20 | Folds, mild elsewhere | No | Itch | Heat, stress, sun |
| c.2172G>A | ||||||||
| 23* | F | c.1720G>T | Isotretinoin | 25 | Trunk | No | Itch | Heat, stress, sun |
| c.2172G>A | ||||||||
| 24 | F | c.116A>G | Topical | 1 | Face, genital area, hands | Yes | Itch, odour, pain | Menstruation, stress |
| c.220-18G>A | ||||||||
| 25 | M | Acitretin | 38 | Face, scalp, trunk, only mildly in skin folds | Yes | Itch | Friction, stress, sun | |
| 26†† | F | c.2272C>T | Topical | 2 | Trunk, only mildly in skin folds, mild elsewhere | Yes | Itch, odour | Heat, sun |
| 27†† | M | c.2272C>T | ||||||
| c.2172G>A | ||||||||
| 28 | M | Topical | 10 | Scalp, trunk, only mildly in skin folds | Yes | Itch, pain | Friction, heat, friction, stress |
*, †, **, †† represent patients that are related. Rows that are blank are patients who did not harbour an ATP2A2 variant or they did not answer the questionnaire. TBSA, total body surface area; F, female; M, male; Het, heterozygous; Hom, homozygous; ix, intron x; Mx, transmembrane domain x; A, actuator domain; P, phosphorylation domain; N, nucleotide binding domain.