E-ISSN 2149-2018
 

Case Report 


A case report of neurofibromatosis Type 1 – plexiform variant

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat.

Abstract
Neurofibromatosis type 1 is a neurocutaneous disorder which is autosomal dominant. The incidence is 1 in 2500 births. It was earlier termed Von Recklinghausen’s disease. The clinical features range from café-au lait spots, multiple neurofibromas of the skin along with plexiform variants, axillary freckling, optic glioma and Lisch nodules. This paper reports a case of Neurofibromatosis type 1 with review of literature.

Key words: Neurofibromatosis, neurofibromas, café-au lait spots, genetic


 
ARTICLE TOOLS
Abstract
PDF Fulltext
Print this article Print this Article
How to cite this articleHow to cite this article
Citation Tools
Related Records
 Articles by Supriya Bhat
Articles by Subhas Gogineni Babu
Articles by Renita Lorina Castelino
Articles by Kumuda Rao
Articles by Medhini Madi
Articles by Saidath K Bhat
on Google
on Google Scholar
Article Statistics
 Viewed: 788
Downloaded: 377
Cited: 0

REFERENCES
1. Huson SM, Compston DAS, Clark P et al: A genetic study of von Recklinghausen neurofibromatosis in south east Wales. 1. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26: 704-711. [DOI via Crossref]    [Pubmed]    [PMC Free Fulltext]   
2. Crowe FW, Schull WJ, Neel JV. Description of clinical material. In: A Clinical, Pathological, and Genetic Study of Multiple Neurofibromatosis. Springfield, IL: Charles C. Thomas; 1956:57-141
3. Viskochil D, Buchberg AN, Xu G et al: Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell. 1990; 62: 1887- 1892.
4. Wallace MR, Marchuk DA, Anderson LB et al: Type 1 neurofibromatosis gene: identification of a larger transcript disrupted in three NG1 patients. Science. 1990; 249: 181- 186. [DOI via Crossref]   
5. Xu GF, OÂ’Connell P, Viskochil D, Cawthon R, Robertson M, Culver M et al: The neurofibromatosis type1 gene encodes a protein related to GAP. Cell 1990; 62: 599- 608. [DOI via Crossref]   
6. Boyd KP, Korf BR, Theos A. Neurofibromatosis type 1. J Am Acad Dermatol. 2009 July ; 61(1): 1-16. [DOI via Crossref]    [DOI via Crossref]   
7. Dimitrova V,Yordanova I, Pavlova V, Valtchev V, Gospodinov D, Parashkevova, Balabanov C. A case of neurofibromatosis type 1. J of IMAB - Annual Proceeding (Scientific Papers) 2008;14(1):63-67.
8. National Institutes of Health Consensus Development Conference Statement: Neurofibromatosis. Arch Neurol (Chicago) 1988;45: 575- 578. [DOI via Crossref]   
9. Huson SM, Harper PS, Compston DAS: Von Recklinghausen neurofibromatosis: clinical and population study in South East Wales. Brain. 1988; 111: 55- 81.
10.García de Marcos JA, Dean Ferrer A, Alamillos Granados F, Ruiz Masera JJ, García de Marcos MJ, Vidal Jiménez A, et al. Gingival neurofibroma in a neurofibromatosis type 1 patient. Med Oral Patol Oral Cir Bucal. 2007;12:287-91
11.Ferner RE, Gutmann DH: International consensus statement on malignant peripheral nerve sheath tumours in neurofibromatosis 1. Cancer Res. 2002; 62: 1573- 1577.
12.Friedman JM, Arbiser J, Epstein JA et al: Cardiovascular disease in neurofibromatosis 1: report of the Nf1 cardiovascular task force. Gen Med 2002; 4: 105- 111.
13.North KN, Riccardi V, Samango-Sprouse C et al: Cognitive function and academic performance in neurofibromatosis 1: Consensus statement from the Nf1 Cognitive Disorders Task Force. Neurology. 1997; 48: 1121- 1127. [DOI via Crossref]   
14.Ruggieri M, Huson SM: The clinical and diagnostic implications of mosaicism in the neurofibromatoses. J Neurol 2001; 56:1433. [DOI via Crossref]   
15.Tonsgard JH, Yelavarthi KK, Cushner S et al: Do Nf1 gene deletions result in a characteristic phenotype? Am J Med Genet. 1997; 73: 80- 86.
16.Mahajan A, Dixit J, Bhardwaj A.Gingival enlargement in neurofibromatosis type 1: a case report and literature review. J Contemporary Dent Pract. 2010;11:57-63.
17.Shapiro SD, Abramovitch K, Van Dis ML et al. Neurofibromatosis: oral and radiographic manifestations. Oral Surg Oral Med Oral Pathol. 1984;58: 493-498. [DOI via Crossref]   
18.Visnapuu V, Peltonen S, Ellila T et al. Periapical cemental dysplasia is common in women with NF1. Eur J Med Genet. 2007;50: 274-280. [DOI via Crossref]    [Pubmed]   
19.Maruyama M, Fushiki H, Watanabe Y. Solitary neurofibroma of the floor of the mouth: a case report. Case Rep Otolaryngol. 2011;2011:967896. [DOI via Crossref]   
20.Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J Med Genet 2007;44:81-88. [DOI via Crossref]    [Pubmed]    [PMC Free Fulltext]   

How to Cite this Article
Pubmed Style

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat. A case report of neurofibromatosis Type 1 – plexiform variant. Appl Med Res. 2016; 2(2): 43-46. doi:10.5455/amr.20160723024023


Web Style

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat. A case report of neurofibromatosis Type 1 – plexiform variant. http://www.ejmamr.com/?mno=224988 [Access: December 15, 2018]. doi:10.5455/amr.20160723024023


AMA (American Medical Association) Style

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat. A case report of neurofibromatosis Type 1 – plexiform variant. Appl Med Res. 2016; 2(2): 43-46. doi:10.5455/amr.20160723024023



Vancouver/ICMJE Style

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat. A case report of neurofibromatosis Type 1 – plexiform variant. Appl Med Res. (2016), [cited December 15, 2018]; 2(2): 43-46. doi:10.5455/amr.20160723024023



Harvard Style

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat (2016) A case report of neurofibromatosis Type 1 – plexiform variant. Appl Med Res, 2 (2), 43-46. doi:10.5455/amr.20160723024023



Turabian Style

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat. 2016. A case report of neurofibromatosis Type 1 – plexiform variant. Applied Medical Research, 2 (2), 43-46. doi:10.5455/amr.20160723024023



Chicago Style

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat. "A case report of neurofibromatosis Type 1 – plexiform variant." Applied Medical Research 2 (2016), 43-46. doi:10.5455/amr.20160723024023



MLA (The Modern Language Association) Style

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat. "A case report of neurofibromatosis Type 1 – plexiform variant." Applied Medical Research 2.2 (2016), 43-46. Print. doi:10.5455/amr.20160723024023



APA (American Psychological Association) Style

Supriya Bhat, Subhas Gogineni Babu, Renita Lorina Castelino, Kumuda Rao, Medhini Madi, Saidath K Bhat (2016) A case report of neurofibromatosis Type 1 – plexiform variant. Applied Medical Research, 2 (2), 43-46. doi:10.5455/amr.20160723024023





Most Viewed Articles
  • Applied Medical Research (AMR) is starting
    Editorial Team
    Appl Med Res. 2015; 1(1): i-i
    » Abstract

  • Preeclampsia at molecular level
    Randa Abdel Kader ElDesouki, Fawzia Ahmed Habib
    Appl Med Res. 2015; 1(2): 65-72
    » Abstract & References » doi: 10.5455/amr.20150314055636

  • Design and characterization of microsponge loaded controlled release epicutaneous gel of lornoxicam
    Purnima Panday, Neha Shukla, Dharmesh Sisodiya, Vikas Jain, Suresh Chand Mahajan
    Appl Med Res. 2015; 1(1): 16-21
    » Abstract & References » doi: 10.5455/amr.20150127052147

  • High Sensitivity C-Reactive Protein: Could it be used as a Cardiovascular Risk Predictor in Hemodialysis Patients?
    Sefer Usta, Hamit Serdar Basbug, Yavuz Cakiroglu
    Appl Med Res. 2015; 1(1): 12-15
    » Abstract & References » doi: 10.5455/amr.20150127120710

  • Maternal anemia during pregnancy in Bahrdar Town, Northwestern Ethiopia: A facility-based retrospective study
    Mulugeta Melku, Aster Agmas
    Appl Med Res. 2015; 1(1): 2-7
    » Abstract & References » doi: 10.5455/amr.20150129110510

  • Effect of a methanol extract of Allium cepa Linn. on incisional wound healing in alloxan-induced diabetic mice
    David Emery Tsala, Mendimi Nkodo Joseph, Tatsimo Simplice, Nnanga Nga, Edmond Jacques, Miaffo David
    Appl Med Res. 2015; 1(3): 90-93
    » Abstract & References » doi: 10.5455/amr.20150427021827

  • A newborn with a missing cerebrum
    Anne Weissenstein, Gloria Villalon, Elisabeth Luchter, Stefan Bittmann
    Appl Med Res. 2015; 1(1): 37-38
    » Abstract & References » doi: 10.5455/amr.20150201030834

  • Open peer review: An initiative to look out for
    Ganesh Singh Dharmshaktu
    Appl Med Res. 2015; 1(1): 1-1
    » Abstract & References » doi: 10.5455/amr.20150128101319

  • A comparative study of transabdominal preperitoneal (TAPP) verses totally extra-peritoneal (TEP) Mesh repair of inguinal hernia
    Shaukat Jeelani, Malik Suhail Ahmad, Hanief Mohamed Dar, Malik Faizan Abass, Azhar Mushtaq, Ubaid Ali
    Appl Med Res. 2015; 1(2): 60-64
    » Abstract & References » doi: 10.5455/amr.20150403124300

  • Clinicopathological characteristics of colorectal cancers at KHMC
    Ahmad Telfah, Mohammad Obeidat, Ayman Abu-Kamar, Ahmad Bawaneh, Abdulmajeed Arabeiat, Hani Al-Kafaween, Luna Fayyad
    Appl Med Res. 2015; 1(1): 22-25
    » Abstract & References » doi: 10.5455/amr.20150126103723

  • Most Downloaded
  • Applied Medical Research (AMR) is starting
    Editorial Team
    Appl Med Res. 2015; 1(1): i-i
    » Abstract

  • Disseminated Mycobacterium scrofulaceum infection in a patient with lymphoma
    Yu-Wen Wang, Chuan-Chuan Hung, Chi-Chou Tseng, Ping-Jen Chen, Chien-Ming Chao
    Appl Med Res. 2015; 1(2): 84-86
    » Abstract & References » doi: 10.5455/amr.20150331112559

  • Design and characterization of microsponge loaded controlled release epicutaneous gel of lornoxicam
    Purnima Panday, Neha Shukla, Dharmesh Sisodiya, Vikas Jain, Suresh Chand Mahajan
    Appl Med Res. 2015; 1(1): 16-21
    » Abstract & References » doi: 10.5455/amr.20150127052147

  • Hemifacial Microsomia with bilateral ear involvement.
    ananya madiyal, VIDYA AJILA, SHRUTHI HEGDE, subhas babu, priyadharshini alva
    Appl Med Res. 2015; 1(4): 140-143
    » Abstract & References » doi: 10.5455/amr.20150730064612

  • Effect of a methanol extract of Allium cepa Linn. on incisional wound healing in alloxan-induced diabetic mice
    David Emery Tsala, Mendimi Nkodo Joseph, Tatsimo Simplice, Nnanga Nga, Edmond Jacques, Miaffo David
    Appl Med Res. 2015; 1(3): 90-93
    » Abstract & References » doi: 10.5455/amr.20150427021827

  • Human Colon Microbiota and Mucosal Immune System
    Ridvan CETIN, Sedat DEVELI, Asel OZTURK, Omer AYKUTLUG, Ahmet KORKMAZ
    Appl Med Res. 2015; 1(4): 135-139
    » Abstract & References » doi: 10.5455/amr.20150930023220

  • Maternal anemia during pregnancy in Bahrdar Town, Northwestern Ethiopia: A facility-based retrospective study
    Mulugeta Melku, Aster Agmas
    Appl Med Res. 2015; 1(1): 2-7
    » Abstract & References » doi: 10.5455/amr.20150129110510

  • Sociodemographic and Obstetrical Factors Associated with Low Birth Weight: Community Based Retrospective Study in an Urban Slum of Western India
    Prakash B Patel, Neha R Bavarva, Manan J Patel, Jayesh J Rana, Shreyash R Mehta, Rajkumar K Bansal
    Appl Med Res. 2015; 1(3): 94-98
    » Abstract & References » doi: 10.5455/amr.20150504014512

  • Preeclampsia at molecular level
    Randa Abdel Kader ElDesouki, Fawzia Ahmed Habib
    Appl Med Res. 2015; 1(2): 65-72
    » Abstract & References » doi: 10.5455/amr.20150314055636

  • High-fat diet and low-dose streptozotocin induced type 2 diabetes: a methodological critique
    Zeynep Ozturk
    Appl Med Res. 2016; 2(2): 41-42
    » Abstract & References » doi: 10.5455/amr.20160610011150

  • Most Cited Articles
  • A comparative study of transabdominal preperitoneal (TAPP) verses totally extra-peritoneal (TEP) Mesh repair of inguinal hernia
    Shaukat Jeelani, Malik Suhail Ahmad, Hanief Mohamed Dar, Malik Faizan Abass, Azhar Mushtaq, Ubaid Ali
    Appl Med Res. 2015; 1(2): 60-64
    » Abstract & References » doi: 10.5455/amr.20150403124300
    Cited : 3 times [Click to see citing articles]

  • Sociodemographic and Obstetrical Factors Associated with Low Birth Weight: Community Based Retrospective Study in an Urban Slum of Western India
    Prakash B Patel, Neha R Bavarva, Manan J Patel, Jayesh J Rana, Shreyash R Mehta, Rajkumar K Bansal
    Appl Med Res. 2015; 1(3): 94-98
    » Abstract & References » doi: 10.5455/amr.20150504014512
    Cited : 2 times [Click to see citing articles]

  • High Sensitivity C-Reactive Protein: Could it be used as a Cardiovascular Risk Predictor in Hemodialysis Patients?
    Sefer Usta, Hamit Serdar Basbug, Yavuz Cakiroglu
    Appl Med Res. 2015; 1(1): 12-15
    » Abstract & References » doi: 10.5455/amr.20150127120710
    Cited : 2 times [Click to see citing articles]

  • Open Fracture Wound Infections Caused by Aeromonas species
    Tung-Lung Wu, Chung-Da Wu, Chung-Hsing Yu, Chi-Chou Tseng, Huan-Tee Chan, Po-Yih Chen, Wei-Ming Chen, Wei-Ting Lin
    Appl Med Res. 2015; 1(2): 39-45
    » Abstract & References » doi: 10.5455/amr.20150318032102
    Cited : 2 times [Click to see citing articles]

  • Determination of Minimum inhibitory concentrations of Common Biocides to Multidrug-Resistant Gram-negative bacteria
    Rajendran Vijayakumar, Mohammad Saleh Al- Aboody, Meshal K. AlFonaisan, Wael Al Turaiki, Suresh Mickymaray, Premanathan Mariappan, Suliman A. Alsagaby, Tim Sandle
    Appl Med Res. 2016; 2(3): 56-62
    » Abstract & References » doi: 10.5455/amr.20161012082036
    Cited : 2 times [Click to see citing articles]

  • Preeclampsia at molecular level
    Randa Abdel Kader ElDesouki, Fawzia Ahmed Habib
    Appl Med Res. 2015; 1(2): 65-72
    » Abstract & References » doi: 10.5455/amr.20150314055636
    Cited : 1 time [Click to see citing article]

  • Psychometric Properties of the SF-12, Penn Shoulder Score, and Visual Analogue Scale-Pain for Rotator Cuff Retears
    Jyothi Menon, Joseph C. Cappelleri, Jack Mardekian, Nicholas J. Vendetti, Marko Mychaskiw, Joseph Thomas III
    Appl Med Res. 2015; 1(3): 109-117
    » Abstract & References » doi: 10.5455/amr.20150701024630
    Cited : 1 time [Click to see citing article]

  • Cutaneous tuberculosis: a clinicopathological study of 50 cases from a tertiary care referral hospital
    Rajpal Singh Punia, Phiza Aggarwal, Reetu Kundu, Harsh Mohan, Mala Bhalla, Deepak Aggarwal
    Appl Med Res. 2015; 1(3): 104-108
    » Abstract & References » doi: 10.5455/amr.20150412074909
    Cited : 1 time [Click to see citing article]

  • High-fat diet and low-dose streptozotocin induced type 2 diabetes: a methodological critique
    Zeynep Ozturk
    Appl Med Res. 2016; 2(2): 41-42
    » Abstract & References » doi: 10.5455/amr.20160610011150
    Cited : 1 time [Click to see citing article]

  • Intestinal Bacteroides vulgatus showing resistance to metals
    Aline Ignacio, Viviane Nakano, Mario J Avila-Campos
    Appl Med Res. 2015; 1(2): 46-50
    » Abstract & References » doi: 10.5455/amr.20150401012721
    Cited : 1 time [Click to see citing article]