Neurofibromatosis Case Report

von Recklinghausens sickness Case ReportAbstract neurofibromatosis, though not discussed in depth, is not at all a clinical rarity. The former has been describe in all races and does not exhibit ad hoc clinical manifestations and features for breatherence. The hereditary nature has been recognized for long, though the depth of mutations is whitewash a long way in short of understanding. It has got a go on item of 50% mutation govern. It occurs with a frequency of 1 facial expression in approximately 3000 births. Malignant transformation has been reported in a few cases, which underlines the importance of in depth analysis of this condition.IntroductionNeurofibromatosis is integrity of the most common hereditary neurocutaneous disorders with an incidence of 13000. It is autosomal dominant and says no race or sex predilection.1 30 to 50% are de-novo cases occurring referable to spontaneous mutations.2The condition firstly documented in 1882 by the German pathologist Fre derich Von Recklinghausen presents with protean clinical manifestations.3This case is reported due to the severe facial hemi hypertrophy associated with von Recklinghausens disease.Case ReportA 12 year old female patient presented with swelling of left wing side of face since infancy. Swelling was first note at one year of age after which it increased steadily and reached the present sizing. public lecture was slurred. No family history of such a condition was observed. On additional oral examination severe hemi hypertrophy of the maxilla was noted with incidental disfigurement of the face on account of deviation of the nose and tattle to the right (Fig 1). on that point was a soft painless mass on the left forehead measuring four centimeters in length and two centimeters in breadth. There was overgrowth of coarse, stiff hair on the mass. The undress showed patchy pigmentation. Left eye is pushed downwards and remained closed due to the rack exerted by the mass (Fig 23). On palpation the mass was soft to warm with diffuse borders. No fixity to underlying tissue was noted. There was no associated domainal lymphadenopathy. Caf au lait spots (CALS) of surface one to two centimeters and unconsecrated black in color were distributed over the trunk and palms of hands (Fig 4). There was a large CALS of size 10 X 15 centimeters in the back of trunk which was irregular with diffuse borders (Fig 5).Intraoral examination showed a smashed mass extending from right maxillary lateral incisor to left maxillary first premolar. The mass measured 3 X 2 centimeters in size and was firm and non tender on palpation. Maxillary left central incisor was set up embedded and the lateral incisor and canine were partially exposed. CALS were noted on the mass. nodular masses were seen on the palate adjacent to right maxillary premolars, on the mass adjacent to right central incisor and on the left f number lip. There was hemi hypertrophy of the tongue and spacing of t eeth on the left side resulting in malocclusion (Fig 6).CT scan shows the lesion extended well in to the brain- cerebrum, frontal sinus, and eye, nasal and maxillary sinus (Fig 7). Preliminary hematological investigations including serum calcium and alkaline phosphatase were carried out and values were found within design limits.Incisional biopsy was performed from the anterior palate. Hi peakathological examination of H E stained sections showed cells with elongated, bent nuclei scattered by abundant, fine and sinuous collagen fibers. There is presence of nerve bundles, piano vascularity and areas of hemorrhage. Overlying epithelium is orthokeratinized stratified squamous epithelium of normal thickness (Fig 89). diagnosis of neurofibroma was made. Patient was referred to the department of oral surgery for further intercession. railleryPresent knowledge shows that neurofibromatosis consists of at least two diseases which show distinct clinical and genetic features, the periphe ral form or neurofibromatosis 1 (NF1) and the central form or neurofibromatosis 2 (NF2). The to a greater extent common one is the NF1. 4 This is autosomal dominant and 50% of cases are new mutations, 80% of which are of paternal origin. The NF1 gene, one of the largest in the piece genome is a tumor suppressor gene located in the pericentromeric region of chromosome 17. It encodes the neurofibromin protein which consists of 2800 amino acids. Due to the large size of the gene and numerous mutations that whitethorn occur genetic testing is not a viable woof in diagnosis. A protein truncation assay is used to detect stop mutations but this confirms the disease only in two thirds of cases and cannot predict the severity. 5,6 diagnosing is confirmed if two or more of the diagnostic criteria are present. (Table 1) because clinical findings are imperative.Accurate correlations between the genotype and phenotype have not been possible because of the large size of the gene. Still it has been found that the severity of the condition increases with complete gene deletions with occurrence of large numbers of neurofibromas and a significantly higher lifetime risk for malignant peripheral nerve pil number 1case tumors. Familial spinal neurofibromatosis corresponds with mutations at the 3 end of the gene. corporal mosaicism may account for the divided forms of neurofibromatosis.5The clinical manifestations are first seen in childhood as small macules resembling freckles which slowly increase in size and deepen in color. Microscopically melanin pigment is seen in macromelanosomes. The number of caf au lait spots indicates the severity of the disease. In mild forms with fewer spots the neurofibromas occur late in life and may also be circumscribe to one part of the body. Secondary symptoms may arise due to occurrence of neurofibromas. An abrupt increase in size may indicate malignancy or may be due to pregnancy or onrush of puberty.7The central nervous system may be a ffected with neurofibromas cause the optic nerve glioma.8 The skeleton may be affected due to primary defects and also pressure effect from the tumors. Cystic lesions are noted within the bones histologically resembling non-ossifying fibroma.9 Renovascular hypertension occurs due to vascular stenosis. The vary symptoms of neurofibroma include growth disorders, abnormal sexual development and lung abnormalities. trusted forms of neurofibroma shows atypical or incomplete features compared to the classic form. These variants are segmental neurofibroma, gastrointestinal neurofibroma, familial spinal neurofibroma and familial caf au lait spots.8Neurofibroma is a disease with diverse characteristics. Early diagnosis aids in proper monitoring of patient. Genetic counseling is also required in familial cases. Frequent reviews are needed as there is accident of development of malignant peripheral nerve sheath tumor (MPNST) in a subset of NF1. Proper histologic evaluation is essential as it is intemperate to differentiate a neurofibroma with atypical histologic features from a low grade MPNST.Germ-line mutations in genes encoding RAS-ERK signaling pathway components cause a set of related, autosomal dominant developmental disorders, termed RASopathies , which include Noonan syndrome . Noonan syndrome with multiple lentigenes (NS-ML at one time known as LEOPARD syndrome), cardio-facio-cutaneous syndrome (CFCS), Costello syndrome (CS), and neurofibromatosis type 1 (NF-1). RASopathy patients typically reveal short stature, facial dysmorphia, cardiac defects, developmental delay, and other variably penetrant features. 10ConclusionNeurofibormatosis and concomitant symptoms are always associated with numerous manifestations. The condition including von Recklinghausen disease has to be understood in depth for proper diagnostic criteria and treatment protocols. Though, significant steps has been taken for analyzing the molecular pathway and genetic mutations involving th e conditions, the finer details are still out of light as faraway as molecular origin and pathway is concerned. An extensive discussion and calculation is needed in this regard so that debility and mortality rate