scholarly journals XERODERMA PIGMENTOSA WITH MULTIPLE CUTANEOUS MALIGNANCIES– A RARE CASE REPORT AND REVIEW OF LITERATURE

2013 ◽  
Vol 03 (01) ◽  
pp. 76-78
Author(s):  
Rohan Shetty ◽  
Girish B. S. ◽  
Rajesh Ballal ◽  
Harish S. Permi ◽  
Pramodh Makannavar ◽  
...  
Keyword(s):  
Rare Case ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Skin Aging ◽  
Malignant Neoplasms ◽  
Review Of Literature ◽  
Rare Case Report ◽  
The Face ◽  
Xeroderma Pigmentosa ◽  
Increase In Risk

AbstractXeroderma pigmentosa is a rare autosomal recessive disorder, characterized by photosensitivity, pigmentary changes, premature skin aging, and marked increase in risk of developing malignant neoplasms of the skin and eyes. Here we present a 13 year old girl with xeroderma pigmentosa who developed multiple cutaneous malignancies in the face and upper limb.

scholarly journals Solitary Trichoepithelioma of Nose: A Rare Case Report and Review of Literature

2015 ◽  
Vol 6 (3) ◽  
pp. 115-117
Author(s):  
Sachin Lal Shilpakar ◽  
Bivek Aryal ◽  
Shyam Thapa Chettri ◽  
Apar Pokharel ◽  
Deepak Paudel
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Histopathological Examination ◽  
Hair Follicles ◽  
Review Of Literature ◽  
Solitary Lesion ◽  
Biological Potential ◽  
Rare Case Report ◽  
The Face ◽  
Head Neck

ABSTRACT The trichoepithelioma is a benign cutaneous neoplasm which is derived from hair follicles. It is common in the face, but there are only three reports of the solitary occurrence on the nose. It is often not recognized because of its rarity, controversial classification, origin and biological potential. The objective of this paper is to present a case of solitary trichoepithelioma on the nose, histopathological examination and treatment. It should be considered as a differential diagnosis of a solitary lesion of nose which is confused with basal cell carcinoma. The confirmation by histopathological examination is essential. How to cite this article Sah BP, Shilpakar SL, Aryal B, Chettri ST, Pokharel A, Mishra S, Paudel D. Solitary Trichoepithelioma of Nose: A Rare Case Report and Review of Literature. Int J Head Neck Surg 2015;6(3):115-117.

scholarly journals Surgical Correction of Cardiac Defects with Ellis Van Crevald Syndrome – A Rare Case Report

2021 ◽  
Vol 24 (1) ◽  
pp. E009-E013
Author(s):  
DIR Choudhury ◽  
Saikat DasGupta ◽  
Mauin Uddin ◽  
Siddhartha Shankar Howlader ◽  
PK Chanda ◽  
...  
Keyword(s):  
Case Report ◽  
Mitral Valve ◽  
Mitral Regurgitation ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Surgical Repair ◽  
Autosomal Recessive Disorder ◽  
Cardiac Defects ◽  
Rare Case Report

Ellis-Van Creveld (EVC) syndrome is an autosomal recessive disorder. Around 150 cases are described in published literature and in Bangladesh, it is even rare.  The patient usually comes with short stature, dental deformity, and cardiac deformity. Here, we present the case of a patient with ostium primum atrial septal defect (ASD) with moderate mitral regurgitation who underwent surgical repair of ASD and mitral valve replacement.

scholarly journals Meckel Gruber Syndrome: a rare case report

2017 ◽  
Vol 5 (1) ◽  
pp. 262
Author(s):  
Manish Verma ◽  
Shruti Sharma ◽  
Kiran Suthar ◽  
Beena Thada
Keyword(s):  
Renal Failure ◽  
Case Report ◽  
Rare Case ◽  
Autosomal Recessive ◽  
Pulmonary Hypoplasia ◽  
Autosomal Recessive Disorder ◽  
Polycystic Kidneys ◽  
Rare Autosomal Recessive Disorder ◽  
Live Births ◽  
Rare Case Report

Meckel gruber syndrome or dysencephalia splanchnocystica, is a rare autosomal recessive disorder caused by failure of mesodermal induction. Worldwide incidence of MGS is 1 per 13,500-140,000 live births. It is characterized by triad of occipital Meningoencephalocele, polycystic kidneys and post-axial polydactyly. Most fetuses affected with this syndrome die before birth due to oligohydramnios, renal failure or pulmonary hypoplasia. We report a rare case of MGS who delivered live at birth with classical features.

Intraosseous Neurofibroma of Mandible in a 5-Year-Old: A Rare Case Report and Review of Literature

2021 ◽  
Author(s):  
Arunkumar Kamalakaran ◽  
Balaji Jayaraman ◽  
Supraja Raghavendran ◽  
Rohini Thirunavukkarasu ◽  
Mariammal Ayyappan ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Review Of Literature ◽  
Rare Case Report

scholarly journals The subdural extramedullary angiolipoma: A rare case report and review of literature

2016 ◽  
Vol 4 (1) ◽  
Author(s):  
Yue-hua Lyu ◽  
Zong-hui Liang ◽  
Yu-lin Xi ◽  
Hua-li Zhao
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Review Of Literature ◽  
Rare Case Report

scholarly journals Bilateral Sturge Weber Syndrome- a rare case report

2013 ◽  
Vol 5 (1) ◽  
pp. 129-132 ◽  
Author(s):  
P Singh ◽  
S Singh
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Unusual Case ◽  
The Other ◽  
Advanced Stage ◽  
Weber Syndrome ◽  
Rare Case Report ◽  
The Face ◽  
Bilateral Condition ◽  
Sturge Weber Syndrome

Background: Sturge-Weber syndrome is a rare congenital neuro- oculo- cutaneous disorder. Objective: To report a very rare unusual case of bilateral manifestation of Sturge Weber syndrome. Case: We report an unusual case of a 17-year-old female with advanced stage of bilateral glaucoma associated with facial nevus extending to the other half of the face as well and bilateral intracranial calcification. Conclusion: Sturge -Weber syndrome can manifest as a bilateral condition. Nepal J Ophthalmol 2013; 5(9):129-132 DOI: http://dx.doi.org/10.3126/nepjoph.v5i1.7841

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