Table 2 Summary of studies published on skin features in children with neurofibromatosis type 2. ND: not diagnosed; A: adult; C: child; CALMs: café au lait macules; HPMs: hypopigmented macules
Our study | Gugel et al. [13] | Anand et al. [11] | Ruggieri et al. [12] | Mautner et al. [8] | Parry et al. [7] | Evans et al. [2] | |
|---|---|---|---|---|---|---|---|
Cohorte | 21 (C) | 70 (C) | 32 (C) | 22 (C) | 88 (A + C) | 63 (A + C) | 100 (A + C) |
Dermatologist examination | Yes | No | No | No | No | No | No |
Data collection | Prospective | Retrospective | Retrospective | Prospective | Prospective | Prospective | Retrospective |
Median age (years old) | 13 [2–18] | 11 [1–17] | 3,5 [0–15] | 12,5 [4–18] | ND | 34,6 [7–71] | ND |
Sporadic cases | 16 (76%) | 55 (78%) | 32 (100%) | 19 (86%) | ND | 17 (27%) | ND |
Severe phenotype | 18 (85%) | ND | 15 (47%) | 22 (100%) | 62 (71%) | 38 (60%) | 46 (46%) |
Skins tumours | 20 (95%) | 31 (44%) | 20 (62,5%) | 21 (95%) | 52 (59%) | 9 (14%) | 68 (68%) |
Type A/AH | 15 (71%) | ND | 12 (38%) | 19 (86%) | 36 (40%) | ND | ND |
Type B | 11 (52%) | ND | 8 (25%) | 9 (41%) | 42 (47%) | ND | ND |
Type C | 10 (47%) | ND | ND | 4 (18%) | 7 (8%) | ND | ND |
Type D | 2 (9%) | ND | ND | ND | 6 (7%) | ND | ND |
CALMs | 15 (71%) | 1 (1,4%) | 12 (38%) | 8 (36%) | 29 (33%) | 29 (46%) | 43 (43%) |
HPMs | 12 (57%) | ND | 3 (9%) | ND | ND | ND | ND |
purple Lesions | 4 (19%) | ND | ND | ND | ND | ND | ND |