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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

From: Dermatologic manifestations in paediatric neurofibromatosis type 2: a cross sectional descriptive multicentric study

  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