Table 1.
Synthesis of data from reviewed articles, all diseases combined, according to their number, study design, samples’ main characteristics (number of subjects, average size, location), comparator strategies and main outcomes
| N | Design (n) | Sample | Comparator.s (n) | Main outcomes (n) | ||||
|---|---|---|---|---|---|---|---|---|
| Total | M (sd) | Range | Locations (n) | |||||
| Overall | 48 | Quanti (27) | 3265 | 121,89 (66,67) | 26–244 |
Europe (12) North America (7) West Africa (4) South America (1) East Asia (1) Australia (1) |
Database.s extraction.s (15): Non-affected (8) Other disease.s (3) Both (4) Recruited sample (5): Non-affected (3) Other disease.s (2) N/A (9) |
Impaired Quality of Life (global, health related, skin specific) (14) Worse emotional state (anxiety, depression, well-being) (7) Disease severity impact (6) Disease visibility impact (5) Appearance self-awareness / Body image or related attitudes (4) Self-esteem (2) Psychiatric comorbidities (2) |
| Mixed (2) | 23 | 11,5 | 10–23 |
Europe (1) South America (1) |
Non-affected (1) N/A (1) |
Vulnerable skin Discrimination / stigma during childhood and adolescence (teasing, bullying) Discomfort in social interactions (dealing with strangers’ reactions) Transmission guilt-trip / genetic inheritance concerns Importance of social support (family, friends, patient’s community) Altered daily life functioning (mobility, skin self-care) Altered romantic & sex life Limits academic & professional aspirations Lack of interest and support from the medical field Unpredictability of the disease evolution Parental distress / investment |
||
| Quali (19) | 415 | 21,32 (16,15) | 3–62 |
Europe (5) Southern Africa (4) North America (2) Caribbean (2) West Africa (2) Central Africa (1) Middle East (1) East Asia (1) Australia (1) |
Recruited sample (1): Non-affected (1) N/A (18) |
|||
| Albinism | 16 | Quanti (6) | 430 | 75,83 (27,05) | 38–105 |
West Africa (4) Southern Africa (1) South America (1) |
Recruited sample (4): Other disease.s (2) Non-affected (2) N/A (2) |
Worse emotional state (anxiety, depression, well-being) (3) Psychiatric comorbidity (1) Impaired Quality of Life (1) Social support (1) Stigma (1) |
| Quali (10) | 199 | 19,9 (17,18) | 3–62 |
Southern Africa (4) Caribbean (2) West Africa (2) Central Africa (1) East Asia (1) |
Recruited sample (1): Non-affected (1) N/A (9) |
Others’ attitudes / discrimination, stigma (7) Health care gaps (4) Importance of social support (family, community) (4) Superstitions & beliefs (4) Knowledge about albinism (3) |
||
| Neurofibromatosis 1 | 16 | Quanti (8) | 1009 | 126,13 (61,38) | 37–228 |
Europe (5) North America (3) |
Database.s extraction.s (6): Non-affected (4) Other disease.s (0) Both (2) Recruited sample (3): Non-affected (2) Other disease.s (1) N/A (1) |
Impaired Quality of Life (health related, skin specific) (5) Disease visibility (4) Self-esteem (2) Worse emotional state (2) Appearance self-consciousness/Body-image (2) Psychological distress (1) Loneliness (1) Disease severity (1) |
| Mixed (1) | 13 | – | – | South America (1) | Non-affected (1) |
Affected body-image / self-consciousness (6) Affected aspiration, self-esteem & self-confidence (5) Social functioning (5) Unpredictable disease progression (5) Pain (4) Knowledge about NF1 (4) |
||
| Quali (7) | 158 | 22,57 (18,21) | 6–60 |
Europe (3) North America (2) Middle East (1) Australia (1) |
N/A (7) | |||
| Ichthyosis | 10 | Quanti (8) | 1193 (including about 270 subjects < 18 yrs) | 149,13 (71,73) | 26–241 | Europe (5) North America (3) |
Database.s extraction.s (2): Non-affected (1) Other disease.s (0) Both (1) Recruited sample (1): Non-affected (1) N/A (5) |
Impaired Quality of Life (5) Disease severity impact (4) Worse emotional state (2) Family burden (1) |
| Mixed (1) | 10 | – | – | Europe (1) | N/A (1) |
Body discomfort (2) Time-consuming skin care (2) |
||
| Quali (1) | 25 | – | – | Europe (1) | N/A (1) | |||
| Birthmarks | 6 | Quanti (5) | 634 (including about 10 adolescents) | 126,8 (87,46) | 52–244 |
Europe (2) North America (1) East Asia (1) Australia (1) |
Database.s extraction.s (3) Non-affected (1) Other disease.s (1) Both (1) Recruited sample (1): Other disease.s (1) N/A (1) |
Impaired Quality of Life (3) Body image / attitudes (2) Psychiatric & medical comorbidities (1) Social support (1) Disease severity impact (1) Disease visibility impact (1) Worse emotional state (well-being) (1) |
| Quali (1) | 23 | – | – | Europe (1) | N/A (1) | |||