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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

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

  Patients
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)