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Bilateral Extensive Port-Wine Stain(Naevus Flammeus) With Persistent Aberrant Mongolian Spots : Phakomatosis Pigmentovascularis Type II a In A Nepalese Girl
Joshi Arun,Prasad Sah Shaturghan,Agrawal Sudha C,Agarwalla Arun
Indian Journal of Dermatology , 2000,
Abstract: An 11 year old girl had extensive port-wine stain affecting here trunk and limbs bilaterally and persistent Mongolian spots on her trunk and buttocks since birth. Combination of such congenital cutaneous vascular and pigmentary anomalies is known as phakomatosis pigmentovascularis (PPV) and we report the first such case form Nepal.
Klippel-Trenaunay and Sturge-Weber overlap syndrome with phakomatosis pigmentovascularis  [cached]
Chhajed Monika,Pandit Sadbhavna,Dhawan Neeraj,Jain Amit
Journal of Pediatric Neurosciences , 2010,
Abstract: Klippel-Trenaunay syndrome and Sturge-Weber syndrome are rare disorders with neurologic and cutaneous signs of vascular origin. Phakomatosis pigmentovascularis represents the association of widespread, aberrant, and persistent nevus flammeus and pigmentary abnormalities. We describe a case with features suggestive of overlap between them. A ten-month-old boy presented with seizures, developmental delay, skin lesions on face, trunk and legs, buphthalmos and right lower limb hypertrophy. CT scan of head showed atrophy of brain and calcification. Our case had overlap of Klippel-Trenaunay syndrome and Sturge-Weber syndrome with phakomatosis pigmentovascularis
Bilateral Temporal Triangular Alopecia Associated with Phakomatosis Pigmentovascularis Type IV Successfully Treated with Follicular Unit Transplantation
Robin Unger,Mohammed A. Alsufyani
Case Reports in Dermatological Medicine , 2011, DOI: 10.1155/2011/129541
Abstract: Temporal triangular alopecia (TTA), also known as congenital triangular alopecia, is a nonscarring, noninflammatroy, circumscribed form of alopecia. TTA has been associated with several disorders, such as Phakomatosis Pigmentovascularis. Hair restoration surgery using follicular unit transplantation has been a successful treatment modality for TTA. Herein we report such a success that was sustained for over six years.
Phacomatosis cesioflammea: First case report from India
Goyal Tarang,Varshney Anupam
Indian Journal of Dermatology, Venereology and Leprology , 2010,
Abstract: Phacomatosis cesioflammea is a rare condition defined by the simultaneous presence of both vascular and pigmentary nevus in the same patient. We report a case of a 4-year-old Indian female child who presented with diffuse dermal melanosis on the upper shoulders, upper anterior chest and lower back and extending to involve both sides of the arms and forearms, generalized port-wine stain on the back, shoulders and both upper limbs with sparing of the right palm. At places, the two types of lesions were superimposed on each other and were also present discretely on the back, but in close proximity to each other. There was the presence of melanosis bulbi on the right side of the eye. She was otherwise normal. She was clinically diagnosed as a case of phacomatosis pigmentovascularis cesioflammea. The nonallelic twin spotting phenomenon has been proposed in the pathogenesis of this disorder.
Misdiagnosis of tuberous sclerosis in a Nigerian girl: A case report and review of literature  [cached]
Olubunmi Ogunrin
Annals of African Medicine , 2010,
Abstract: Tuberous sclerosis is a rare neuro-cutaneous syndrome, one of the phakomatosis, characterized by facial angiofibromas (adenoma sebaceum), mental retardation and epilepsy. This classic triad occurs in less than one half of patients, probably in one-third, thus requiring a high index of suspicion to diagnose. Consequently it may easily be misdiagnosed as neurofibromatosis or other medical conditions. This is a case report of tuberous sclerosis in a 13-year-old Nigerian girl that was misdiagnosed as neurofibromatosis because of her cutaneous lesions. This paper discussed the case and reviewed the literature. A comprehensive medical clerkship, thorough physical examination, high index of clinical suspicion and neuroimaging investigations are required to confirm diagnosis.
Case Report  [cached]
Sasi Sekhar T V D,Satish P,Krishnaveni Vanapala,Anvesh Golla
National Journal of Medical Research , 2013,
Abstract: Dyke-Davidoff-Masson Syndrome (DDMS) is characterized by Seizures, facial asymmetry, contralateral hemiplegia and Mental Retardation. Characteristic Radiological features are Cerebral hemiatrophy with homolateral hypertrophy of skull and sinuses We report a Case of DDMS in a 21yr old male who presented with Generalised Tonic Clonic Seizures, Hemiparesis of the left hand and leg with deformity of the left upper limb and left lower limb and also deviation of the mouth to left. [Natl J of Med Res 2013; 3(1.000): 98-99]
Case Report: CT and MRI findings in Lhermitte- Duclos disease
MRH Bayat, J Sarawan
South African Journal of Radiology , 2005,
Abstract: Lhermitte-Duclos disease (LDD) is a rare cerebellar lesion of uncertain origin. It is linked to an autosomal- dominant phakomatosis known as Cowden's disease in 40% of patients. The MRI features of LDD are almost unique and can be considered diagnostic. We report on a patient who presented with the typical MRI features of the above disease, and discuss the imaging features, pathology and genetics. South African Journal of Radiology Vol.9(1) 2005: 30-31
A Case for Case Report  [PDF]
Vivek Gharpure
APSP Journal of Case Reports , 2010,
Abstract: Evidence based medicine (EBM) is becoming popular among clinicians and medical publishers; as clinical research is tested against the touchstone of EBM. Theory of Quality of Evidence, considers randomized controlled trials to be the best quality evidence, while case reports and expert opinions are considered at the lowest ebb
A report on case reports  [cached]
Gopikrishna Velayutham
Journal of Conservative Dentistry , 2010,
Abstract: Case reports are defined as the scientific documentation of a single clinical observation and have a time-honored and rich tradition in medicine and scientific publication. This article discusses the role and relevance of case reports in the current evidence-based medical literature. It also seeks to help and guide authors to understand how to prepare a reasonable and well-written case report and how they may anticipate concerns that peer reviewers may express when scrutinizing their manuscript. An overview of the Journal of Conservative Dentistry′s review process of a manuscript submission is provided for the benefit of future authors. It is important to be able to read a case report critically and to use the information they contain appropriately. This article also discusses the factors to consider in evaluating individual case reports, and discusses a practical conceptual scheme for evaluating the potential value and educational content of a case report.
Case report: Perinephric lymphangiomatosis  [cached]
Gorantla Rajani,Yalapati Anusheela,Dev Bhawna,Joseph Santhosh
Indian Journal of Radiology and Imaging , 2010,
Abstract: Perirenal lymphangiomatosis is a rare benign malformation of the lymphatic system. We report here a case of bilateral perirenal and parapelvic involvement with a normal excretory collecting system.
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