scholarly journals “Transforming the Beast to A Beauty”- Fifteen Years into the Making - Case Report of Congenital Neurofibromatosis

2019 ◽  
Vol 7 (3) ◽  
pp. 388-391
Author(s):  
Smilja Tudzarova-Gjorgova ◽  
Sandra Gjorgova-Gjeorgjievski ◽  
Boro Ilievski

BACKGROUND: In 1882, the German pathologist Friedrich Daniel von Recklinghausen described a series of patients with a combination of cutaneous lesions and tumours of the peripheral and central nervous system. Succeeding this paper, all of the patients with similar symptoms were given the diagnosis “von Recklinghausen disease”. In the 20th century, a distinction was made between Neurofibromatosis type 1 (NF1) and Neurofibromatosis type 2 (NF2) with the help of molecular testing. CASE REPORT: We are presenting the results from multiple surgical esthetic and reconstructive surgical procedures performed on a female patient with severe congenital neurofibromatosis during 15 years (2000-2015). The external appearance of our patient was not reflected in the general public’s beauty standards. Convinced that she was unusual and unaccepted by the society, she gathered all of the strength and became our patient at 15 years of age. CONCLUSION: Transforming the patient’s life in the next fifteen years improved her overall health and her life quality.

2016 ◽  
Vol 09 (02) ◽  
pp. 110
Author(s):  
Sudhir Singh ◽  
Ananda B ◽  
◽  

Neurofibromatosis (NF) is a rare condition characterized by hamartomas of neural crest origin. NF is divided into NF type 1 (NF1) and NF type 2 (NF2) based on clinical features. We report a case of a 10-year-old Indian male who presented with NF1 along with unilateral pediatric glaucoma and eye globe enlargement. Pediatric glaucoma association with NF1 further adds rarity the disease.


2022 ◽  
pp. 004947552110686
Author(s):  
Pallavi Hegde ◽  
Deepti Jaiswal ◽  
Varsha M Shetty ◽  
Kanthilatha Pai ◽  
Raghavendra Rao

Reactions in leprosy represent sudden shift in the immunological response and are seen in 11–25% of affected patients. It can be seen before, during or after the completion of multidrug therapy (MDT). 1 Two types of reactions are recognized; Type 1 reaction (T1R), seen in borderline leprosy, affecting mainly skin and nerves; type 2 reaction (T2R) or erythema nodosum leprosum (ENL), seen in lepromatous leprosy, characterized by systemic features in addition to cutaneous lesions. Trophic ulcers and ulcerating ENL are well known entities while cutaneous ulceration in T1R is extremely rare; we describe an immune-competent woman with cutaneous ulceration as a presenting feature to highlight the need to recognize this entity at the earliest opportunity.


2020 ◽  
Vol 2 (10) ◽  
pp. 1926-1930
Author(s):  
Nicolas Plais ◽  
Peter H. Connolly ◽  
Renaud Lafage ◽  
Debra Jacobs ◽  
Virginie Lafage ◽  
...  

2021 ◽  
pp. 204589402110295
Author(s):  
Hirohisa Taniguchi ◽  
Tomoya Takashima ◽  
Ly Tu ◽  
Raphaël Thuillet ◽  
Asuka Furukawa ◽  
...  

Although precapillary pulmonary hypertension (PH) is a rare but severe complication of patients with neurofibromatosis type 1 (NF1), its association with NF2 remains unknown. Herein, we report a case of a 44-year-old woman who was initially diagnosed with idiopathic pulmonary arterial hypertension (IPAH) and treated with PAH-specific combination therapy. However, a careful assessment for a relevant family history of the disease and genetic testing reveal that this patient had a mutation in the NF2 gene. Using immunofluorescence and Western blotting, we demonstrated a decrease in endothelial NF2 protein in lungs from IPAH patients compared to control lungs, suggesting a potential role of NF2 in PAH development. To our knowledge, this is the first time that precapillary PH has been described in a patient with NF2. The altered endothelial NF2 expression pattern in PAH lungs should stimulate work to better understand how NF2 is contributing to the pulmonary vascular remodeling associated to these severe life-threatening conditions.


Author(s):  
Gen Udagawa ◽  
Takuya Naganawa ◽  
Akira Kumasaka ◽  
Yasuhiro Fujimoto ◽  
Yuichi Akagi ◽  
...  

2012 ◽  
Vol 19 (3) ◽  
pp. 285-290
Author(s):  
Denisa Kovacs ◽  
Luiza Demian ◽  
Aurel Babeş

Abstract Objectives: The aim of the study was to calculate the prevalence rates and risk ofappearance of cutaneous lesions in diabetic patients with both type-1 and type-2diabetes. Material and Method: 384 patients were analysed, of which 47 had type-1diabetes (T1DM), 140 had type-2 diabetes (T2DM) and 197 were non-diabeticcontrols. Results: The prevalence of the skin lesions considered markers of diabeteswas 57.75% in diabetics, in comparison to 8.12% in non-diabetics (p<0.01). The riskof skin lesion appearance is over 7 times higher in diabetic patients than in nondiabetics.In type-1 diabetes the prevalence of skin lesions was significantly higherthan in type-2 diabetes, and the risk of skin lesion appearance is almost 1.5 timeshigher in type-1 diabetes than type-2 diabetes compared to non-diabetic controls.Conclusions: The diabetic patients are more susceptible than non-diabetics todevelop specific skin diseases. Patients with type-1 diabetes are more affected.


2016 ◽  
Vol 17 ◽  
pp. 774-781 ◽  
Author(s):  
Nina Mikirova ◽  
Ronald Hunnunghake ◽  
Ruth C. Scimeca ◽  
Charles Chinshaw ◽  
Faryal Ali ◽  
...  

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