RESUMO
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.
Assuntos
Dor Crônica/etiologia , Neurilemoma/complicações , Neurilemoma/genética , Neurofibromatoses/complicações , Neurofibromatoses/genética , Neoplasias Cutâneas/complicações , Neoplasias Cutâneas/genética , Adolescente , Adulto , Idoso , Criança , Dor Crônica/genética , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Recidiva Local de Neoplasia , Qualidade de Vida , Estudos Retrospectivos , Fatores de Transcrição/genética , Adulto JovemRESUMO
The aim of this study was to define the skin patterns at high risk for upper airway infantile haemangioma. A retrospective multicentre French observational study was conducted between January 2006 and January 2015 and all confirmed airway haemangioma were included. Thirty-eight patients with airway haemangioma from 9 centres were included. Thirty-one patients had a cutaneous or mucosal haemangioma: 21 with a location considered at high risk for airway haemangioma (large segmental mandibular haemangioma), 4 with a very mild facial involvement (lower lip or S1 (frontotemporal segment according to Haggstrom and Frieden)) and 6 with either lesions of the neck or body, or association of both. We report here the largest cohort of airway haemangioma. A third of patients do not completely fit with the definition of the high-risk area of airway haemangioma. Segmental lower lip and neck involvement also seem to be very suggestive areas. Clinicians must be able to recognize these areas.
