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

Overall

48

Quanti (27)

3265

121,89 (66,67)

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

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)

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)

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)

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)

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)

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)

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)

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)