Abstract:
Introduction. Neurofibromatosis type 1 (NF1) is an autosomal dominant disease caused by a spectrum of
mutations that affect the NF1 gene on chromosome 17q11.2 and one of the most common human genetic
diseases (90%), with a prevalence of one in 3,000 births, without any predilection for sex or race. The
expressiveness of the disease is extremely variable, with manifestations ranging from mild lesions to several
complications, functional disorders and tumors.
Aim of study. To analyze the clinical features of optimizing the diagnostic-curative management of patients
with Neurofibromatosis type 1(NF1) addressed to the Oncological Institute.
Methods and materials. This study was performed at the Oncological Institute of the Republic of Moldova.
The research was of observational–descriptive type, conducted during the years 2017-2020 and the patients
included in the study were diagnosed with Neurofibromatosis type I or Recklinghausen’s disease.
Discussion. The results of the study determined that out of the total number of patients with 18 NF1 hospitalized
for surgical treatment in the Department of Skin Tumors, Melanoma and the locomotor system, 7 (38.8%) of
them were from de novo healthy families and 11 (61.1%) were from families with NF1 present. In all 18 cases,
patients were treated surgically forcutaneous and subcutaneous neurofibroids. And 12 (66.6%) of 18 patients
were treated repeatedly for existing skin manifestations. According to the studies conducted, we determined that
the vast majority of patients opted for removal >2 outbreaks making up a total of 15 (83.3%) cases, fewer cases
were with the removal of 1 outbreak 3 (16.6%) and 2 outbreaks 4 (22.2%) cases. All patients opted for surgical
treatment for aesthetic reasons and fewer cases due to pain, especially on the move. We evaluated that, along
with the skin manifestations, these patients had other manifestations of the disease. Malignancies in our study
were not determined, and treatment was limited to symptomatic postoperatively. In all cases, most
manifestations were present in group 2, both clinically and paraclinical, where more than 2 pathological
manifestations were present at the same time. Osteoarticular manifestations made up 15 (83%), of which with
scoliosis with/ without kyphosis 7 (38.8%), with osteoporosis 4 (22.2%) and stature retardation 4 (22.2%), with
predominance in the group 2 study with patients from families with NF1. Endocrine manifestations accounted
for 6 (33.3%) cases, from 1-3% cases in patients showed clinical and paraclinical signs neuropsychic 1 (5.5%),
cardiovascular 2 (11.1%), digestive 3 (16.6%).
Conclusion. Comparing our own results with other results in the literature, we found that cutaneous
manifestations in our research are as common as 95-100% of cases and malignant tumors in our study were not
highlighted. The diversity of the clinical manifestations of this disease determines us to analyze this group of
patients in more detail, as well as requires the consultation of several specialists - oncologists, family doctors,
surgeons, ophthalmologists, neurologists, traumatologists-orthopedists, therapists, endocrinologists, geneticists,
pediatricians, for the treatment of clinical manifestations as well as the improvement of the lifestyle of these
patients.
