Segmental schwannomatosis: characteristics in 12 patients.
Adolescent
Adult
Aged
Child
Chronic Pain
/ etiology
Female
Humans
Male
Middle Aged
Mutation
/ genetics
Neoplasm Recurrence, Local
Neurilemmoma
/ complications
Neurofibromatoses
/ complications
Quality of Life
Retrospective Studies
Skin Neoplasms
/ complications
Transcription Factors
/ genetics
Young Adult
LZTR1 mutation
Neurofibromatosis
Segmental schwannomatosis
Journal
Orphanet journal of rare diseases
ISSN: 1750-1172
Titre abrégé: Orphanet J Rare Dis
Pays: England
ID NLM: 101266602
Informations de publication
Date de publication:
22 08 2019
22 08 2019
Historique:
received:
21
03
2019
accepted:
13
08
2019
entrez:
24
8
2019
pubmed:
24
8
2019
medline:
1
7
2020
Statut:
epublish
Résumé
Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature. Our objective was to better describe the demographic and clinical characteristics of this condition. This was a retrospective, bi-center study conducted in two French expert centers for neurofibromatosis and schwannomatosis. The clinical, radiographic, pathological and molecular aspects were extracted from patients' clinical records. Twelve patients with segmental schwannomatosis were identified. Eight were female and 4 were male. The median age at initial symptom was 29 years (range: 6-60 years) and the median age at diagnosis was 34.5 years (range: 13-65 years). Pain was the initial symptom for the majority of patients (7 of 12). The number of tumors was variable with six patients having more than 10 tumors. Peripheral distribution was seen in all patients. Quality of life could be impaired (median Dermatology Life Quality Index score was 4.5 (range: 2-13). The median duration of follow up was 3 years (range: 1-26). Chronic pain was the main complication (9 of 12 patients). Surgical intervention to control chronic pain was performed for 9 patients of whom 5 experienced recurrence of tumors. Molecular investigations revealed heterozygous LZTR1 variants in 3 of 9 patients. Segmental schwannomatosis is a rare condition that may start early in life and often remains undiagnosed for many years. Pain is the main symptom and consequently could impair the quality of life. Surgery seems to be effective, but recurrences are frequent. Some patients carried heterozygous LZTR1 variants. Further studies are needed to better understand this rare condition.
Sections du résumé
BACKGROUND
Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature. Our objective was to better describe the demographic and clinical characteristics of this condition.
METHODS
This was a retrospective, bi-center study conducted in two French expert centers for neurofibromatosis and schwannomatosis. The clinical, radiographic, pathological and molecular aspects were extracted from patients' clinical records.
RESULTS
Twelve patients with segmental schwannomatosis were identified. Eight were female and 4 were male. The median age at initial symptom was 29 years (range: 6-60 years) and the median age at diagnosis was 34.5 years (range: 13-65 years). Pain was the initial symptom for the majority of patients (7 of 12). The number of tumors was variable with six patients having more than 10 tumors. Peripheral distribution was seen in all patients. Quality of life could be impaired (median Dermatology Life Quality Index score was 4.5 (range: 2-13). The median duration of follow up was 3 years (range: 1-26). Chronic pain was the main complication (9 of 12 patients). Surgical intervention to control chronic pain was performed for 9 patients of whom 5 experienced recurrence of tumors. Molecular investigations revealed heterozygous LZTR1 variants in 3 of 9 patients.
CONCLUSION
Segmental schwannomatosis is a rare condition that may start early in life and often remains undiagnosed for many years. Pain is the main symptom and consequently could impair the quality of life. Surgery seems to be effective, but recurrences are frequent. Some patients carried heterozygous LZTR1 variants. Further studies are needed to better understand this rare condition.
Identifiants
pubmed: 31438995
doi: 10.1186/s13023-019-1176-4
pii: 10.1186/s13023-019-1176-4
pmc: PMC6704629
doi:
Substances chimiques
LZTR1 protein, human
0
Transcription Factors
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
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