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Master Thesis

Manifestations cutanées de la neurofibromatose de type 2 dans une population pédiatrique : intérêt de l'examen dermatologique dans le diagnostic précoce

Abstract : Objectives: to characterize cutaneous manifestations of neurofibromatosis type 2 (NF2) in a paediatric population.
Methods: this observational, prospective and multicentric study was conducted from April 2019 to April 2020 in 7 academic French hospitals. Patients ≤ 18 included fulfilled the Manchester diagnostic criteria or had a pathogenic mutation identified in the NF2 gene. All patients had a dermatological examination, guided by a standardized questionnaire, and a collection of anamnestic data.
Results: 21 children were included (median age 13 years [range 2-18]; sex-ratio 11 boys/10 girls), including 18 severe forms and 16 sporadic cases. Except one patient completely asymptomatic, all of them presented at least one skin tumour (mean number of tumours 5.9 [1-15]), which led to diagnosis in 4 cases. In the other 17 cases, diagnosis of NF2 resulted from neurosensory complications (n=10), family screening (n=4) or ocular signs (n=3). Before the NF2 diagnosis, 70% of children have at least one “undiagnosed” cutaneous tumour that did not lead to a specific management. Patients’ dermatological examination also found café au lait macules (CALMs) (n=15; 71%) previously described in literature, hypopigmented macules (HPMs) (n=12; 57%), and purple reticulated macules (n=4; 19%).
Conclusion: dermatological and ophthalmic lesions are frequent and precocious in children with sporadic severe NF2, but rarely lead to the diagnosis because of lack of clear guidelines. CALMs and HPMs also seem suggestive, and the sensitivity of reticulated capillary malformation-like lesions remains to be assessed by further studies.
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Master Thesis
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https://dumas.ccsd.cnrs.fr/dumas-02962544
Contributor : Bibliothèque Universitaire de Médecine Nice Connect in order to contact the contributor
Submitted on : Friday, October 9, 2020 - 12:14:43 PM
Last modification on : Wednesday, April 21, 2021 - 3:15:09 AM

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  • HAL Id : dumas-02962544, version 1

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Sophie Legoupil. Manifestations cutanées de la neurofibromatose de type 2 dans une population pédiatrique : intérêt de l'examen dermatologique dans le diagnostic précoce. Human health and pathology. 2020. ⟨dumas-02962544⟩

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