Table 1 Characteristics of the population, genetic data, and dermatologic, ophthalmologic, neurologic and ENT features. yo: years old; M: male; F: female; CALMs: café-au-lait macules; HPMs: hypopigmented macules

Sex

11 M/10F

Median age at time of study

13 ± 4,2 yo [range 2–18]

Median age at first sign

8 ± 4,3 yo [range 0–15]

Symptoms leading to diagnosis / Median age at diagnosis

Neurological complications (n = 10)/9 ± 3,2 yo [range 6–15]

Family screening (n = 4)/11 ± 1,2 yo [range 8–11]

Cutaneous signs (n = 4)/12 ± 5,4 yo [range 3–15]

Ocular signs (n = 3)/4 ± 6,4 yo [range 2–14]

Phenotype

severe = 18/moderate = 2/asymptomatic = 1

Family history

Negative 16/Positive 5

Dermatological features

 Median Number of skin tumours/median age of onset

5 ± 4,5 [range 0–15]/7 ± 5,4 yo [range 0–16]

 Type A or AH

2 ± 3,9 [range 0–15]/(n = 15)

 Type B

0,5 ± 1,4 [range 0–5]/(n = 11)

 Type C

0 ± 2,4 [range 0–8]/(n = 10)

 Type D

0 ± 0,2 [range 0–1]/(n = 2)

 CALMs

1 ± 1,6 [range 0–5]/(n = 15)

 HPMs

1 ± 2,1 [range 0–7]/(n = 12)

 Purple lesion

0 ± 0,5 [range 0–2]/(n = 4)

Ophtalmological features

 Retinal lesions

0 ± 0,37 yo [range 0–1]/(n = 9)

 Posterior cataracts

6 ± 7 yo [range 4–17]/(n = 4)

 Strabismus

1 ± 4,5 yo [range 0–10]/(n = 8)

 Optic meningioma

total (n = 4)/unilateral (n = 3)/bilateral (n = 1)

Neurological features

 Median number of tumour

7 ± 4,4 [range 0- > 10]/(n = 18)

 Tumour location

 Brain

n = 14

 Spine

n = 14

 Cranial nerves (except N.VIII)

n = 7

 Histological type

 Schwannoma

2 ± 1,7 [range 0- > 10]/(n = 14)

 Meningioma

2 ± 1,5 [range 0–4]/(n = 12)

 Ependymoma

0 ± 3,6 [range 0–12]/(n = 5)

 Astrocytoma

(n = 0)

ENTs features

 Vestibular schwannoma

total (n = 19)/unilateral (n = 2)/bilateral (n = 17)