Au Lait Spots Research Articles

A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579+2 T>C (IVS 34+2 T>C) of NF1 gene was identified in the patient and his mother. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.

Bizarre Radiographic Finding of Intraoral Neurofibroma: A Case Report

Neurofibroma(NF) is one of the common well known autosomal dominant inheritable entity with a prevalence of one per 3000 people. Clinically, there are two types of NF:NF 1 with 90% occurrence along with 7 subtypes and NF2. It is a genetic disorder and benign peripheral nerve sheath tumor. It has a neural origin with presence of café –au-lait spots along with multiple nodules over the skin and all over the body. It might be associated with bone malformation and sometimes the central nervous systems is also involved. Diagnosis of neurofibroma is based on clinical criteria. The frequency of oral manifestations is debated in the literature. Some authors report a frequency of 4-7% of cases, whereas others suggest that these manifestations are present in up to 72% of cases. Here the purpose of this case report is to review the disease with intraoral clinical and radiological findings found in a patient having a bizzare radiographic finding of Intraoral Neurofibroma (NF).

Increased arterial stiffness causing resistant hypertension in an adolescent with Neurofibromatosis type 1

Neurofibromatosis type 1 is an autosomal dominant genetic disorder characterized by the presence of café au lait spots, axillary and inguinal freckling, Lisch nodules, and neurofibromas. Hypertension is a relatively frequent complication, usually caused by renal artery stenosis or pheochromocytomas. We describe the case of a 15-year-old boy with neurofibromatosis type 1 who was also diagnosed with resistant hypertension. Despite an extensive evaluation, the etiology of his hypertension remained indeterminate. Estimation of the brachial-ankle pulse wave velocity and ambulatory arterial stiffness index could validate the existence of arterial stiffness. Further, a combination of carvedilol and angiotension receptor blockers was administered, which successfully controlled his resistant hypertension. We propose that the estimation of the brachial-ankle pulse wave velocity measure and ambulatory arterial stiffness index is a noninvasive method, and these two parameters are relatively simple tools that can be used for the detection of arterial stiffness due to neurofibromatosis type 1-related vasculopathy.

A porcine model of neurofibromatosis type 1 that mimics the human disease.

Loss of the NF1 tumor suppressor gene causes the autosomal dominant condition, neurofibromatosis type 1 (NF1). Children and adults with NF1 suffer from pathologies including benign and malignant tumors to cognitive deficits, seizures, growth abnormalities, and peripheral neuropathies. NF1 encodes neurofibromin, a Ras-GTPase activating protein, and NF1 mutations result in hyperactivated Ras signaling in patients. Existing NF1 mutant mice mimic individual aspects of NF1, but none comprehensively models the disease. We describe a potentially novel Yucatan miniswine model bearing a heterozygotic mutation in NF1 (exon 42 deletion) orthologous to a mutation found in NF1 patients. NF1+/ex42del miniswine phenocopy the wide range of manifestations seen in NF1 patients, including café au lait spots, neurofibromas, axillary freckling, and neurological defects in learning and memory. Molecular analyses verified reduced neurofibromin expression in swine NF1+/ex42del fibroblasts, as well as hyperactivation of Ras, as measured by increased expression of its downstream effectors, phosphorylated ERK1/2, SIAH, and the checkpoint regulators p53 and p21. Consistent with altered pain signaling in NF1, dysregulation of calcium and sodium channels was observed in dorsal root ganglia expressing mutant NF1. Thus, these NF1+/ex42del miniswine recapitulate the disease and provide a unique, much-needed tool to advance the study and treatment of NF1.

Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells

Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas. NF1 encodes the tumour suppressor protein neurofibromin, which negatively regulates the small GTPase Ras, with the constitutive activation of Ras signalling resulting from NF1 mutations being thought to underlie neurofibroma development. We previously showed that knockdown of neurofibromin triggers epithelial-mesenchymal transition (EMT) signalling and that such signalling is activated in NF1-associated neurofibromas. With the use of a cell-based drug screening assay, we have now identified the antiallergy drug tranilast (N-(3,4-dimethoxycinnamoyl) anthranilic acid) as an inhibitor of EMT and found that it attenuated the expression of mesenchymal markers and angiogenesis-related genes in NF1-mutated sNF96.2 cells and in neurofibroma cells from NF1 patients. Tranilast also suppressed the proliferation of neurofibromin-deficient cells in vitro more effectively than it did that of intact cells. In addition, tranilast inhibited sNF96.2 cell migration and proliferation in vivo. Knockdown of type III collagen (COL3A1) also suppressed the proliferation of neurofibroma cells, whereas expression of COL3A1 and SOX2 was increased in tranilast-resistant cells, suggesting that COL3A1 and the transcription factor SOX2 might contribute to the development of tranilast resistance.

Accurate Classification of NF1 Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.

Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recognizable NF1 clinical features—café-au-lait (CALs) spots and axillary and/or inguinal freckling—appear early in childhood but are rather non-specific. Thus, the identification of causative variants is extremely important for early diagnosis, especially in paediatric patients. Here, we aimed to identify the underlying genetic defects in 72 index patients referred to our centre for NF1. Causative mutations were identified in 58 subjects, with 29 being novel changes. We evaluated missense and non-canonical splicing mutations with both protein and splicing prediction algorithms. The ratio of splicing mutations detected was higher than that reported in recent patients’ series and in the Human Gene Mutation Database (HGMD). After applying in silico predictive tools to 41 previously reported missense variants, we demonstrated that 46.3% of these putatively missense mutations were forecasted to alter splicing instead. Our data suggest that mutations affecting splicing can be frequently underscored if not analysed in depth. We confirm that hamartomas can be useful for diagnosing NF1 in children. Lisch nodules and cutaneous neurofibromas were more frequent in patients with frameshifting mutations. In conclusion, we demonstrated that comprehensive in silico analysis can be a highly specific method for predicting the nature of NF1 mutations and may help in assuring proper patient care.

Alteraciones de la pigmentación

ConceptDyschromia is a disease causing changes in the skin's pigmentation. Melanin is principally responsible for skin colour and alterations in the synthesis of melanin or the number of active melanocytes can cause changes in skin colour. Some dyschromias can be markers of an associated systemic disorder (multiple lentigines or café au lait spots). DiagnosisA detailed history and physical examination are sufficient to diagnose most cases of dyschromia. Wood's lamp can be very useful in people with pale skin to make the affected areas more obvious. TreatmentIn the treatment of acquired hyperpigmentation such as melasma or solar lentigos, it is vital to stress that prevention is the most effective treatment. The daily use of sunscreen and avoiding hours of maximum sunshine are the most important measures. Healthcare professionals should be aware of the impact of hyperpigmentation such as vitiligo on their patients’ quality of life.

A child with multiple café au lait macules: Rare presentation of plexiform neurofibromatosis with facial dysmorphism, alopecia, proptosis, stridor, and limb length discrepancy

Multiple cafe au lait macules are one of the cornerstones in diagnosing neurofibromatosis Type 1 (NF 1). NF 1 is often a multisystem neurocutaneous disorder, plexiform NF being one of the most important variants of this phacomatosis. Here, a rare case of a 2.5-year-old male child without positive family history has been described who presented with multiple large cafe au lait spots, alopecia, dysmorphic facies, proptosis, protrusion and deviation of tongue, biphasic stridor, bilateral neck swelling, and abnormal gait due to foreshortened left leg. Magnetic resonance imaging revealed abnormal soft-tissue infiltration of cavernous sinus through sphenoid bone, retro-orbital, retropharyngeal, parapharyngeal spaces, floor of mouth, and encasement of unilateral neck vessels and compression over trachea. Indirect laryngoscopy revealed unilateral vocal cord palsy most likely due to recurrent laryngeal nerve involvement. Biopsy confirmed the diagnosis of NF. Pediatricians and dermatologists should be aware of syndromic causes and their varied presentations while encountering a child with multiple large cafe au lait spots.

A patient with features of both Neurofibromatosis I and Neurofibromatosis II on MR imaging

Neurofibromatosis (NF) type II is a neurocutaneous disease with an autosomal dominant pattern of inheritance with its gene locus on chromosome 22q 12 with bilateral acoustic schwannoma being the hallmark of this disease. NF II is considered central neurofibromatosis while NF I is the peripheral neurofibromatosis. This case report presents a case of a 15 year old female who came with complaint of bilateral tinnitus, hearing loss, low grade fever and weakness in bilateral lower limbs , which on imaging work up showed bilateral acoustic schwannoma, meningioma and small cord ependymoma giving the classical features of neurofibromatosis II along with unique features of cafe au lait spots, cutaneous neurofibromas, plexiform neurofibromas, and focus of altered signal intensity in white matter tracts of left frontal lobe which are unique to NF1. To our knowledge no such previous case report with overlapping features of both NF-1 and NF-2 has been described before.

Neurofibromatosis-associated Malabsorption

We report on a case of a young woman who presented with anemia secondary to malabsorption in the setting of neurofibromatosis with intestinal involvement. A 25-year-old woman presented with symptomatic iron deficiency anemia. There was no history of menorrhagia or pregnancy and she was eating a regular diet. For the prior 18 months, she suffered from diarrhea and weight loss. Her family history was significant for both her mother and brother having neurofibromatosis type 1. She, herself, had been previously diagnosed with neurofibromatosis based on café au lait spots. Her exam was significant for several café au lait spots, a 2.5cm neurofibroma on the chest, a firm yet non-tender abdomen, and a body mass index of 17.3. Labs revealed a microcytic anemia of 6.4g/dL with an associated ferritin of 2.7ng/mL. Further laboratory testing revealed a low serum copper of 29μg/dL, hypoalbuminemia of 2.0g/dL, and a low 25-OH vitamin D at 6.1ng/mL. Thiamine, vitamin E, vitamin B12, folate and IgA tissue transglutaminase were normal. A CT scan showed multiple segments of severely thickened jejunal and ileal loops. Some areas contained polypoid luminal masses. A conglomeration of low-density masses was noted throughout the small bowel mesentery (Figure 1). The terminal ileum and proximal duodenum were not involved. A subsequent diagnostic push enteroscopy revealed markedly dilated lacteals in the jejunum (Figure 2). Jejunal biopsies confirmed diffuse mucosal involvement by neurofibroma with associated dilated lacteals (Figure 3). This led to a diagnosis of small bowel neurofibromatosis-associated malabsorption. Neurofibromatosis type 1 is an autosomal dominant condition associated with gastrointestinal tumors in up to 25% of cases.1 Neurofibromatosis causing lymphatic obstruction of the extremities with resultant lymphedema is well reported. Neurofibromatosis involving the small bowel may present with occult bleeding, intussusception, or constipation.3-5 In the case described here, infiltration of the mesentery as well as the small bowel with neurofibromatosis resulted in dilated lacteals, associated hypoalbuminemia, as well as multiple vitamin deficiencies. The patient's anemia and copper improved with parenteral iron and copper supplementation, but her hypoalbuminemia and diarrhea persisted. Because of extensive small bowel involvement, surgical resection was deferred and she was referred to a nutritionist for dietary manipulation.Figure: CT demonstrating segments of thickened jejunal and ileal loops, polypoid luminal masses. and a conglomeration of low-density masses throughout the small bowel mesentery.Figure: Push enteroscopy revealing markedly dilated lacteals in the jejunum.Figure: Jejunal biopsies showing diffuse neurofibroma with dilated lacteals.

Multiple Malignancies in a Young Patient

SESSION TITLE: Non-Small Cell Lung Cancer SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: Fanconi anaemia (FA) is associated with chromosomal fragility and a high risk of cancers, including leukaemia and solid tumours. 3% of patients develop more than one cancer in their lifetime. We report a case of a 31 year old man with FA who was diagnosed concurrently with myelodysplastic syndrome and squamous cell carcinoma of the lung. CASE PRESENTATION: He presented to an acute hospital with cough and breathlessness of 1 month’s duration. A chest radiograph showed right lower lobe collapse and he also had thrombocytopenia with 2% blasts. Bone marrow aspiration showed myelodysplastic syndrome (deletion 20q). Bronchoscopy showed an endobronchial tumour obstructing the right lower lobe and an eventual diagnosis of Stage 3A squamous cell carcinoma was made. He had been healthy prior to his diagnosis of cancer with no developmental abnormalities. He was of normal height (167cm) and head circumference (53.5cm) and had no skeletal abnormalities. There were café au lait spots on his back and right neck. He worked as a delivery driver and had smoked for 5 pack years prior to his diagnosis. A review of his family history revealed significant history of malignancy. His sister had been diagnosed with skin cancer and lymphoma at the age of 35, and there was a history of lung cancer in both sides of his family. There was no history of consanguinity in his family. In view of his young age and family history, he underwent genetics testing and FA was eventually diagnosed. DISCUSSION: Squamous cell carcinomas have been described in FA, although these are more commonly of the head and neck. A review of the literature showed very few reported cases of FA with squamous cell carcinoma of the lung (1). These patients usually tolerate chemotherapy and radiotherapy poorly due to a defect in DNA damage response and prognosis is often poor (2). After extensive discussion with a multidisciplinary team, the patient was deemed not to be suitable for chemotherapy because of his myelodysplastic syndrome. He was treated with an attenuated dose of radical radiotherapy to the lung with palliative intent. This was complicated by 2 admissions for haemoptysis which were managed with bronchial artery embolization and platelet transfusions. Of date, he has tolerated 15 fractions of radiotherapy with twice a week platelet transfusions. The last staging scan showed mild reduction in the size of the endobronchial tumour. CONCLUSIONS: FA is a rare disease with an incidence of 1 in 200 000-400 000. Squamous cell carcinoma associated with FA is even rarer and there are currently no proven therapies. Reference #1: Cathart-Rake, Lopez-Chavaz. Young Male with Fanconi Anemia and EGFR-Mutant Non-Small-Cell Lung Cancer. J Thorac Oncol. 2014 Nov;9(11):e83-5 Reference #2: A.R. Venkitaraman. A growing network of cancer-susceptibility genes. N Engl J Med, 348 (19) (2003), pp. 1917-1919 DISCLOSURE: The following authors have nothing to disclose: Hui Zhong Chai, Qiao Li Tan No Product/Research Disclosure Information

PP-35 Clinical features and therapeutic options in children with neurofibromatosis 1: a single centre experience

Background Neurofibromatosis type 1 (NF1) is a genet-ic disorder that affects the growth and development of nerve cell tissue, with subsequent development of mul-tiple benign tumours of the nervous system and the skin, as well as the areas of abnormal skin colour and other clin-ical manifestations. Our study aimed to examine the in-cidence of clinical features and diagnostic parameters of NF1, as well as to identify the current therapeutic options. Methods We analysed retrospectively the medical doc-umentation of the patients of the Clinic of Neurology and Psychiatry for Children and Youth in Belgrade, in the peri-od from 2003–2016, fulfilling clinical diagnostic criteria for NF1. In addition to demographic data, the clinical mani-festations were obtained based on diagnostic criteria, ad-ditional clinical manifestations and supplementary diag-nostic tests. In statistical analysis, we used the methods of descriptive statistics, χ² and Mann-Whitney test. In order to identify the current treatment for the NF1, we analysed the recent pharmacological data, as well as the clinical tri-als registered in the ClinicalTrials.gov registry. Results The study group consisted of 65 patients (35 males/30 females) up to 18 years old at the first exam-ination. Multiple cafe au lait spots (patches of tan or light brown skin) were present in all patients (65, 100%). The frequency of axillary and inguinal freckles and Lisch nodules were 70.8% and 61.5%, respectively, while neu-rofibromas (cutaneous, subcutaneous and plexiform) were present in 66.2% of patients. Glioma optic pathway (GOP) was present in 13.2%, pathological findings of visu-al evoked potentials (VEP) were recorded in one third of patients, epilepsy with 10.8% and pathological electroen-cephalographic (EEG) patterns were described at 27.7% patients. Unidentified bright objects (UBO) on the MRI were described in 50.0% of patients, with no statistical dif-ferences regarding to the age of patients (p=0.635). Char-acteristic bone lesions were diagnosed in 27.7% patients, and positive family history was in 63.1%. Mental disorders and learning disabilities were diagnosed in 26.2% of patients. Furthermore, there was no correlation between the appearance of axillary/inguinal spots and Lisch nod-ules regarding to the age of patients (p=0.419; p=0.521, respectively); however, there was a statistically significant correlation between GOP and VEP (p=0.003). The current NF1 treatment includes the symptomatic therapy, includ-ing surgery and chemotherapy, while the specific treat-ment is not available yet. A total of 122 clinical trials were identified in the ClinicalTrials.gov registry; however, there are only few, phase 2, interventional studies in children: with mTOR inhibitors (sirolimus and everolimus) and RAS kinase inhibitor (tapifarnib). Conclusion NF1 is a multi-system disease that requires multidisciplinary approach and monitoring. The wide range of clinical features, inability to predict the severity of features/complications and limited therapeutic options make NF1 management a real clinical challenge. Future directions: to find therapeutic strategies or specific mol-ecule(s) to prevent/treat the harmful NF1 complications.

Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth.

Neurofibromatosis type I (NF1) microdeletion syndrome, which is present in 4-11% of NF1 patients, is associated with a severe phenotype as it is caused by the deletion of NF1 and other genes in the 17q11.2 region. The variable expressivity of the disease makes it challenging to establish genotype-phenotype correlations, which also affects prognosis and counselling. We here describe a 3-year-old NF1 patient with an atypical deletion and a complex phenotype. The patient showed overgrowth, café au lait spots, inguinal freckling, and neurological abnormalities. The extent of the deletion was determined by means of array comparative genomic hybridisation, and its breakpoints were isolated by means of long-range polymerase chain reaction. Sequence analysis of the deletion junction fragment revealed the occurrence of an Alu-mediated recombination that led to the generation of a chimeric gene consisting of three exons of RNF135 and eleven exons of SUZ12. Interestingly, the deletion shares a common RNF135-centred region with another deletion described in a non-NF1 patient with overgrowth. In comparison with the normal RNF135 allele, the chimeric transcript was 350-fold over-expressed in peripheral blood, and the ADAP2 gene located upstream of RNF135 was also up-regulated. In line with this, the deletion causes the loss of a chromatin TD boundary, which entails the aberrant adoption of distal cis-acting regulatory elements. These findings suggest that RNF135 haploinsufficiency is related to overgrowth in patients with NF1 microdeletion syndrome and, for the first time, strongly indicate a position effect that warrants further genotype-phenotype correlation studies to investigate the possible existence of previously unknown pathogenic mechanisms.

Café Au Lait Spots as a Marker of Neuropaediatric Diseases

Café Au Lait Spots as a Marker of Neuropaediatric Diseases

Halolike Phenomenon Around a Café au Lait Spot Superimposed on a Mongolian Spot.

An 8-month-old Caucasian infant with neurofibromatosis type 1 presented with a congenital plexiform neurofibroma and multiple café au lait spots. A pale area surrounded one of the café au lait spots located on the left gluteus in the area of dermal melanocytosis. This halolike phenomenon results from the disappearance of the Mongolian spot around the café au lait spots, revealing normal pigmented skin. This sign has been described rarely in the literature and the pathogenic mechanism is unclear.

Fanconi Anaemia – A Rare Case Report

Fanconi anaemia is a rare and most common form of inherited aplastic anaemia. It is mostly autosmal (except one x link) recessive disorder characterized by diverse congenital malformations, progressive pancytopenia, and predisposition to both haematological malignancy and solid tumours. Congenital malformation varies from patient to patient and may affect the skeletal system as well as organ systems. Highly variable phenotypic presentation with clinical menifestations makes difficult for diagnosis in some cases. Chromosomal breakage study induce by Mitomycin-C (MMC)/Diepoxybutane(DEB) provide a unique cellular marker for the diagnosis.The incidence of FA is approximately 1 to 5 per million. In Bangladesh, so far no study or even any case was reported. In this case report, a two years nine months old male child presented with generalized weakness , recurrent episodes of fever and physical deformities. It was found him short stature, microcephaly, trianguler face,generalized hyperpigmentation with café au lait spots,absent both thumbs with flexor deformity of both wrists. Peripheral smear found bicytopenia, bone marrow aspiration and biopsy showed hypoplastic marrow mildly elevated LDH, X-ray and USG showed bone and organ agenesis and chromosomal breakage study is also positive.

Cutaneous and Systemic Findings in Mosaic Neurofibromatosis Type 1.

Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1. We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015. All patients had pigmentary changes, alone (n = 39) or in combination with neurofibromas (n = 1). Twenty-four cases fulfilling the definition of MNF1 had six or more café au lait spots with or without freckling within the affected segment. They all lacked any other National Institutes of Health criteria of NF1. No patient had juvenile xanthogranuloma (JXG) or nevus anemicus (NA). Two children with MNF1 had epilepsy and two others developed malignancy (Hodgkin's lymphoma and ganglioneuroblastoma). Pigmentary changes are the most frequent presentation of MNF1 in children. MNF1 must be considered with segmentary distribution of freckling and café au lait spots. Other frequent cutaneous findings in NF1, such as JXG or NA, seem to be exceptional in MNF1. Although the possibility of systemic complications and cancer risk seem to be low, patients must be followed up.

Segmental Neurofibromatosis

ABSTRACT Segmental neurofibromatosis is a rare condition that most commonly affects women and presents as neurofibromas, café au lait spots, and freckling. The neurofibromas usually occur in a dermatomal pattern, whereas the café au lait spots may follow Blaschko’s lines. There is often no family history. The etiology is due to a postzygotic mutation in the gene encoding neurofibromin. Histopathology reveals a tumor with haphazardly arranged spindle cells and a pale myxoid stroma from mucin deposition and fibroplasia. There have been few reported cases of segmental neurofibromatosis. In this case report, we will discuss the clinical features, histopathology, differential diagnosis, and management of segmental neurofibromatosis.

PP - MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B IN CHILD: CASE REPORT

Multiple endocrine neoplasias are autosomal dominant genetic syndromes. The MEN type 2B is featured by mucosal neuromas with tumoral involvement in thyroid, parathyroid and adrenal. Individuals present marfanoid and dolichocephalic body, narrow face, thick and protruding lips, overbite, anterior diastema, and may have nodular lesions on the tongue and oral mucosa. The patient, S.A.S., female, African American, 5 years, accompanied by her father, appeared in 1FAODO-UFMS suspected of retention cyst or pyogenic granuloma. On examination, there were thin and elongated limbs, café au lait spots on trunk, front and hypertelorism bossa, primary teeth, permanent teeth formation, nodular sessile based on lower gingival mucosa, on region of the 72 to 83 elements, 3 cm, slightly delimited and firm to the touch, subjected to biopsy. Histopathology found numerous circular nerve bundles and discreet perineural thickening in connective tissue. She was diagnosed with multiple endocrine neoplasias, and was referred to the endocrinologist, pediatrician and genetic study. Furthermore the father had the same soft nodules and massive stock pedunculated mass in the posterior side of the thorax, suggesting neurofibromatosis. Thorough intraoral examination and viewing the patient as a whole is essential because oral abnormalities are usually linked to systemic diseases, and early oral diagnosis results will improve life quality, and favorable prognosis.

Neurofibromatosis Type 1 in Four Children Cases

Neurofibromatosis Type 1 (NF-1 or Von Recklinghausen disease) is an autosomal dominant genetic disease, characterized by an extreme variability of its clinical expression which is also found in the same family. Our work focuses on the exploitation of four cases of patients with NF-1 who were enrolled in the paediatric neurology consultation at Rabat Children’s Hospital. They are two infants and two children. Otherwise the diagnosis was made in front of the existence of cafe au lait and lentiginous spots in two boys, also the existence of cafe au lait spots and abnormalities in brain imaging in two girls. Thus an evolution was marked by a favorable outcome for three patients and neurological sequelae in one patient.