scholarly journals A CASE OF FACIAL ASYMMETRY Neurofibromatosis type 1 with subcutaneous mass in occipital region, bilateral lisch nodules of iris and cafe- au- lait spots

2005 ◽  
Vol 2 (4) ◽  
Author(s):  
Köksal Yuca ◽  
Nebi Yılmaz ◽  
Adnan Çınal ◽  
Ömer Etlik ◽  
Muzaffer Kırış
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Facial Asymmetry ◽  
Neurofibromatosis Type ◽  
Occipital Region ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Subcutaneous Mass

Hypophosphatemic Osteomalacia associated with Neurofibromatosis Type-1: A case report and literature review

2020 ◽  
pp. 1-3
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Bone Matrix ◽  
Neurofibromatosis Type ◽  
Lower Limbs ◽  
Laboratory Evaluation ◽  
Lumbosacral Spine ◽  
Café Au Lait Spots ◽  
Hypophosphatemic Osteomalacia ◽  
Subcutaneous Mass

Introduction: Skeleton abnormalities are not uncommon in neurofibromatosis type-1 (NF1), which usually manifest as congenital malformations, such as scoliosis and sphenoid wing dysplasia. However, very rare cases of NF1 have been associated with hypophosphatemic osteomalacia (HO), which is characterized with later onset in adulthood, severe hypophosphatemia and disorder of the mineralization of organic bone matrix. Patient concerns: Here we reported a rare case of a 29-year-old woman presented with weakness and pain in lower limbs for 18 months and aggravated for half a year. On physical examination, her lower limbs’ myodynamia reduced and tenderness in multiple bone areas was detected. Light brown patches and scattered nodules could be seen on her skin, and a soft subcutaneous mass was found in the low back. Laboratory evaluation showed hypophosphatemia. Bone ECT suggested multiple abnormal bone metabolism and MRI scan of lumbosacral spine revealed numerous fractures. Neuroimaging indicated the neurofibromas, and then the biopsy of the subcutaneous lump confirmed neurofibromatosis. Diagnosis: HO associated with NF1 was diagnosed, based on the presence of café-au-lait spots and the results of bone ECT scan and biopsy. Interventions: The patient was treated with oral calcitriol, calcium carbonate d3 and phosphorus, as well as intramuscular carbocalcitonin. Outcomes: During hospitalization, her serum phosphorus level increased and symptoms improved. Conclusion: The case reported here calls attention to that when NF1 patients manifested with weakness and neurology diseases have been excluded, HO should be taken into consideration.

Neurofibromatosis Type 1

2017 ◽  
Author(s):  
David S. Wolf
Keyword(s):  
Learning Disabilities ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Vascular Abnormalities ◽  
Hyperactivity Disorder ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Neurocutaneous Disorder

Neurofibromatosis type 1 is a common, autosomal dominant, monogenetic neurocutaneous disorder. It is characterized by café au lait spots, axillary and inguinal freckling, Lisch nodules, optic pathway gliomas, neurofibromas, and distinctive bony abnormalities. Also associated with this condition are other central nervous system tumors, scoliosis, hypertension, vascular abnormalities, and cognitive issues such as learning disabilities and attention deficit-hyperactivity disorder.

scholarly journals Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study

Cancers ◽  
2021 ◽  
Vol 13 (8) ◽  
pp. 1879
Author(s):  
Marcello Scala ◽  
Irene Schiavetti ◽  
Francesca Madia ◽  
Cristina Chelleri ◽  
Gianluca Piccolo ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Copy Number Variations ◽  
Single Nucleotide Variants ◽  
Multivariate Statistical ◽  
Gene Deletions ◽  
Pathogenic Variants ◽  
Lisch Nodules ◽  
Next Generation Sequencing Ngs

Neurofibromatosis type 1 (NF1) is a proteiform genetic condition caused by pathogenic variants in NF1 and characterized by a heterogeneous phenotypic presentation. Relevant genotype–phenotype correlations have recently emerged, but only few pertinent studies are available. We retrospectively reviewed clinical, instrumental, and genetic data from a cohort of 583 individuals meeting at least 1 diagnostic National Institutes of Health (NIH) criterion for NF1. Of these, 365 subjects fulfilled ≥2 NIH criteria, including 235 pediatric patients. Genetic testing was performed through cDNA-based sequencing, Next Generation Sequencing (NGS), and Multiplex Ligation-dependent Probe Amplification (MLPA). Uni- and multivariate statistical analysis was used to investigate genotype–phenotype correlations. Among patients fulfilling ≥ 2 NIH criteria, causative single nucleotide variants (SNVs) and copy number variations (CNVs) were detected in 267/365 (73.2%) and 20/365 (5.5%) cases. Missense variants negatively correlated with neurofibromas (p = 0.005). Skeletal abnormalities were associated with whole gene deletions (p = 0.05) and frameshift variants (p = 0.006). The c.3721C>T; p.(R1241*) variant positively correlated with structural brain alterations (p = 0.031), whereas Lisch nodules (p = 0.05) and endocrinological disorders (p = 0.043) were associated with the c.6855C>A; p.(Y2285*) variant. We identified novel NF1 genotype–phenotype correlations and provided an overview of known associations, supporting their potential relevance in the implementation of patient management.

A clinical, genetic and audiological study of patients and families with bilateral acoustic neurofibromatosis

1993 ◽  
Vol 107 (1) ◽  
pp. 6-11 ◽  
Author(s):  
W. J. Neary ◽  
V. E. Newton ◽  
M. Vidler ◽  
R. T. Ramsden ◽  
R. H. Lye ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Neurofibromatosis Type ◽  
Team Approach ◽  
Clinical Genetic ◽  
Acoustic Neuromas ◽  
Café Au Lait Spots ◽  
Lisch Nodules ◽  
Hereditary Disorders

AbstractThe neurofibromatoses consist of at least two distinct autosomal dominant hereditary disorders. Neurofibromatosis type 1 (NF1) is due to a lesion on chromosome 17q. Neurofibromatosis type 2 (NF2) is caused by a defect on chromosome 22q. The hallmark of NF2 is the development, in the second and third decades, of bilateral acoustic neuromas. NF1 is characterized by the appearance of cafe-au-lait spots and neurofibromas in addition to iris hamartomas, or Lisch nodules, of the eye, during the first and second decades.Ten families were personally studied. A total of 16 members were found to be affected with NF2. A protocol for evaluation and review of subjects and relatives of NF2 families is proposed. A team approach, coordinating the expertise of multiple specialties is recommended.

Structure of Lisch nodules in neurofibromatosis Type 1

1991 ◽  
Vol 12 (1) ◽  
pp. 11-17 ◽  
Author(s):  
T. H. Williamson ◽  
A. Garner ◽  
A. T. Moore
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Lisch Nodules

scholarly journals Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta

2013 ◽  
Vol 2013 ◽  
pp. 1-4
Author(s):  
Masato Kimura ◽  
Shuhei Kakizaki ◽  
Kengo Kawano ◽  
Shinichi Sato ◽  
Shigeo Kure
Keyword(s):  
Thoracic Aorta ◽  
Neurofibromatosis Type 1 ◽  
Aortic Coarctation ◽  
Autosomal Dominant ◽  
Genetic Disorder ◽  
Neurofibromatosis Type ◽  
Lisch Nodules ◽  
Atypical Coarctation ◽  
Graft Interposition

Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. Clinical features are café-au-lait macules, intertriginous freckling, dermal neurofibroma, iris hamartoma (Lisch nodules), and learning disability. NF1 vasculopathy is a serious but underrecognized complication involving the cerebrovascular and cardiovascular systems. The incidence of hypertension in patients with NF1 is around 1% and is associated mainly with renal artery stenosis in children. Only a few cases of thoracic aortic coarctation in association with hypertension and neurofibromatosis have been reported. Here we describe the case of a 4-year-old girl who presented with NF1 and hypertension due to atypical coarctation of the thoracic aorta. The diagnosis of coarctation of the thoracic aorta at the Th5-to-Th6 level was made following catheterization with a pressure gradient of 40 mmHg. The patient underwent surgery comprising resection of the coarctation of the thoracic aorta and graft interposition. On the basis of our findings, annual assessment of blood pressure is advised for patients with NF1.

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