Café-au-lait spots in neurofibromatosis type 1 and in healthy control individuals: hyperpigmentation of a different kind?

2006 ◽  
Vol 297 (10) ◽  
pp. 439-449 ◽  
Author(s):  
Sofie De Schepper ◽  
Joachim Boucneau ◽  
Yves Vander Haeghen ◽  
Ludwine Messiaen ◽  
Jean-Marie Naeyaert ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Café Au Lait Spots ◽  
Healthy Control

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.

Biometric and refractive errors evaluation in patients with neurofibromatosis type 1

2020 ◽  
pp. 112067212093440
Author(s):  
Aldo Vagge ◽  
Paolo Corazza ◽  
Roberta Vagge ◽  
Giulia Agosto ◽  
Michele Iester ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Healthy Subjects ◽  
Corneal Thickness ◽  
Neurofibromatosis Type ◽  
Controlled Study ◽  
Control Group ◽  
Refractive Errors ◽  
P Values ◽  
Healthy Control

Purpose: To analyze biometric changes and prevalence of refractive in patients with neurofibromatosis type 1 (NF1). Methods: Retrospective, case-controlled study involving patients affected by NF1 and healthy control subjects. Data on biometric measurements such as axial length (AL), central corneal thickness (CCT), anterior chamber depth (ACD), lens thickness (LT), keratometry (K1 and K2) values, and white-to-white (WTW), obtained by use of optical low-coherence reflectometry on a Lenstar LS 900® (Haag-Streit AG, Switzerland) were collected and analyzed. Cycloplegic refractions were then performed. Results: Overall, 166 eyes of 83 patients diagnosed with NF1 (mean age 21.6 ± 9.8) were enrolled and compared with 178 eyes of age-matched healthy subjects (mean age 22.6 ± 6.6). One hundred sixty-six (22.8%) and 33 of 178 (18.5%) eyes were myopic in NF1 patients and healthy subjects, respectively. The prevalence of hyperopia in the NF1 group was 12 of 166 (7.2%) whereas in the healthy control group was 14 of 178 (8.9%). Twenty-nine of 166 (17.4%) and 34 of 178 (19.1%) eyes presented astigmatism in NF1 and control group, respectively. These differences were not statistically significant ( p-values > 0.05). Refractive errors such as myopia, hyperopia, and astigmatism were similar between the two groups. The difference of AL, CCT, ACD, LT, K values, and WTW were no statistically significant between the two groups ( p-values > 0.05). Conclusion: Refractive errors and ocular biometric parameter seem not to be an addition findings of NF1.

scholarly journals Legius Syndrome in a 13 Month Old Boy: A Case Report

2017 ◽  
Vol 2 (1) ◽  
Keyword(s):  
Learning Disabilities ◽  
Case Report ◽  
Developmental Delay ◽  
Neurofibromatosis Type 1 ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Café Au Lait Spots ◽  
Legius Syndrome

Legius syndrome is autosomal dominant and caused by mutations in the SPRED1 gene. Clinical manifestations include multiple cafe-au-lait spots, axillary/ inguinal freckling and a degree of macrocephaly, without the non-pigmentary signs of neurofibromatosis type 1 (NF1). Learning disabilities, developmental delay and ADHD are also known.

Bilateral Congenital Pseudarthrosis of the Tibia with Neurofibromatosis Type 1: Case Report and Literature Review

2021 ◽  
pp. 1-9
Author(s):  
Bunyamin Ari ◽  
Sabit Numan Kuyubasi ◽  
Admin
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Correction Osteotomy ◽  
Pathological Fractures ◽  
Café Au Lait Spots ◽  
The Right ◽  
Fibular Grafting ◽  
Gene Mutation Analysis

Congenital pseudoarthrosis of the tibia (CTP) is a pathology characterized by dysplasia and pathological fractures in the tibia which fail to heal on its own. Its relationship with neurofibromatosis type 1 is already known. A very rare case; an 13 year old child diagnosed with NF1, accompanying bilateral CTP was presented in this article. She also had occasional blood pressure attacks and café au lait spots. She was diagnosed with NF, by gene mutation analysis and the BT results reported that pseudoarthrosis affected both tibiae. The patient was successfully treated by performing fibular grafting and external fixation operation of the tibia with internal and Ilizarov technique. Correction osteotomy was performed and grafted with 20 cc synthetic bone graft on the part of the right tibia where the bowing deformity was observed; the left tibia was not osteotomized as the bowing deformity was slighter. As a result of the 13-month follow-up,

scholarly journals Neurofibromatosis type 1 (NF1) gene: Beyond café au lait spots and dermal neurofibromas

2016 ◽  
Vol 26 (7) ◽  
pp. 645-648 ◽  
Author(s):  
Sirkku Peltonen ◽  
Roope A. Kallionpää ◽  
Juha Peltonen
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Café Au Lait Spots ◽  
Nf1 Gene

A Case of Neurofibromatosis type 1 with Moya Moya Disease

Pulse ◽  
2018 ◽  
Vol 10 (1) ◽  
pp. 34-37
Author(s):  
SJ Bhuiyan
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
The Body ◽  
Global Developmental Delay ◽  
Optic Glioma ◽  
Left Middle Cerebral Artery ◽  
Café Au Lait Spots ◽  
Moya Moya Disease ◽  
The Right

A 5 years old boy with multiple café au lait spots came with intermittent weakness of the right side of the body and seizures. The child had global developmental delay. His MRI and MRA showed thickening of the optic nerves, abnormal signal in multiple areas of the brain with non-visuation of the left middle cerebral artery. The child was diagnosed to have neurofibromatosis type 1 with seizures with bilateral optic glioma with Moya Moya disease.Pulse Vol.10 January-December 2017 p.34-37

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