scholarly journals Juvenile polyposis syndrome with extraintestinal anomalies: report of a rare case with review of literature

2017 ◽  
Vol 5 (2) ◽  
pp. 720 ◽  
Author(s):  
Kusuma Venkatesh ◽  
Karishma Pillarisetty ◽  
Sreedhara Murthy B. N.
Keyword(s):  
Rare Case ◽  
Positive Family History ◽  
Rare Condition ◽  
Juvenile Polyposis ◽  
Congenital Defects ◽  
Low Grade ◽  
Polyposis Syndrome ◽  
Juvenile Polyposis Coli ◽  
Bleeding Per Rectum ◽  
Sporadic Cases

Juvenile polyposis coli is a rare condition in children with neoplastic potential having an incidence of about 1 in 1,00,000 population. A minority of such patients have extraintestinal abnormalities like cardiac and pulmonary arteriovenous malformations. Juvenile polyposis is a disorder of hamartomatous polyposis syndrome having a malignant potential. The progression of hamartomatous polyp to carcinoma is still elucidated when compared to the understanding of transformation of an adenomatous polyp into a carcinoma via a gatekeeper defect. Here is the report of a rare case of Juvenile polyposis in a 7 year old boy who presented with bleeding per rectum and prolapsed rectum showing multiple polyps. Patient had undergone surgery for closure of ventricular septal defect and pulmonary valvotomy 3 years back. Proctocolectomy was done and the resected colon showed 40 polyps. Histologically polyps contained benign glandular tissue and one of the larger polyps showed low grade epithelial dysplasia. In this case, there was no positive family history and extraintestinal congenital defects are said to be more common in such sporadic cases.

scholarly journals Juvenile Polyposis Syndrome in a Young Patient: A Rare Case Report

2018 ◽  
Vol 3 (2) ◽  
pp. 492-494
Author(s):  
Yamuna Agrawal ◽  
Rajan Shah ◽  
Brikh Raj Joshi ◽  
Vivek Kattel
Keyword(s):  
Case Report ◽  
Young Patient ◽  
Rare Case ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
Rare Syndrome ◽  
Rare Case Report ◽  
Malignant Condition

Juvenile polyposis syndrome prevalence is 1 in 16,000 to 1 in 100,000 which usually present at the age of 20 years. The tumor is likely to change into malignant condition in 20% of cases. Here we present this rare syndrome in a 16-year boy. BJHS 2018;3(2)6:492-494.

scholarly journals Aplasia Cutis Congenita: A Case Report

2018 ◽  
Vol 10 (2) ◽  
pp. 182-186 ◽  
Author(s):  
Tahani Magliah ◽  
Faiza Alghamdi
Keyword(s):  
Case Report ◽  
Positive Family History ◽  
Rare Condition ◽  
Medical Intervention ◽  
Intracranial Extension ◽  
Congenital Defects ◽  
Anterior Fontanel ◽  
Aplasia Cutis Congenita ◽  
Scalp Lesion ◽  
Aplasia Cutis

Background: Aplasia cutis congenita is characterized by congenital focal absence of skin in a newborn. Case Report: A 45-day-old boy presented to the outpatient clinic of dermatology at King Abdul Aziz Medical City, Jeddah, Saudi Arabia, with a flat scalp lesion on the space of the anterior fontanel. There was a positive family history of such condition in his older brother’s scalp, which resolved spontaneously within 3 weeks after labor, without any medical intervention. There were no associated hemangiomata or other congenital defects in his body. The case was admitted to the hospital. Ultrasound of the head showed bullae over the anterior fontanel, well-defined complex cyst, and an isolated subcutaneous lesion, with no evidence of intracranial extension. The baby was started on intravenous infusion of vancomycin (67 mg in dextrose 5% in water) for 3 days, but no improvement occurred to the scalp cyst. The baby started to receive 15 g of 2% mupirocin ointment, topically three times daily. After 2 days, the scalp cyst gradually decreased in size and became dry within 1 week. Follow-up after 3 months showed that the scalp lesion completely healed, leaving a very small atrophic scar and no further management of the lesion was needed. Conclusions: Aplasia cutis congenita is a rare condition of uncertain etiology, but consanguinity may play a role. Its management depends on its pattern, location, underlying causes, and associated anomalies.

scholarly journals A rare case of partial paraxial radial hemimelia in a puppy

2017 ◽  
Vol 62 (No. 12) ◽  
pp. 681-684
Author(s):  
F. Macri ◽  
S. Di Pietro ◽  
A. Palumbo Piccionello ◽  
G. Rapisarda ◽  
G. Lanteri ◽  
...  
Keyword(s):  
Rare Case ◽  
Animal Species ◽  
Rare Condition ◽  
The Body ◽  
Congenital Defects ◽  
Radiographic Findings ◽  
Congenital Deformities ◽  
Limb Deformities ◽  
Congenital Limb ◽  
Congenital Limb Deformities

This article reports a case of a congenital unilateral forelimb defect in a two-month-old male puppy with clinical and radiographic findings. Congenital deformities are structural or functional congenital defects arising from errors during development, and they can affect an isolated portion of the body, the complete body or parts of several systems of the body. The congenital absence of a portion of the proximal epiphysis of the radius is an extremely rare condition in human and animal species. Although similar congenital limb deformities have been infrequently reported in dogs, the present case is, to the best of the authors’ knowledge, the first report of this type of partial forelimb paraxial radial hemimelia in a puppy, and it represents an addition to the scant literature on this topic.

scholarly journals A Rare Case of Juvenile Polyposis Syndrome in a 13-year-old Girl from a Rural Area

Cureus ◽  
2019 ◽  
Author(s):  
Murk Lakhani ◽  
Zainab Mohsin ◽  
Sarmad Pirzada ◽  
Imrana Zulfikar
Keyword(s):  
Rural Area ◽  
Rare Case ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

A Rare Case of Congenital Missing Mandibular Second Molar: Report and Review of Literature

2020 ◽  
Author(s):  
Deepashri H Kambalimath
Keyword(s):  
Tooth Development ◽  
Rare Condition ◽  
Review Of Literature ◽  
Indian Literature ◽  
Missing Teeth ◽  
Second Molar ◽  
The World ◽  
Mandibular Second Molar ◽  
Sporadic Cases ◽  
Genetic And Environmental Factors

Congenital missing permanent second molar is an extremely rare condition. Non syndromic mandibular second molar agenesis associated with other anomalies has occasionally been reported in literature, but isolated sporadic cases are rarely observed. Number of interactions between genetic and environmental factors during the process of tooth development might be the causative etiology for agenesis. This report presents an isolated case of hypodontia with absence of bilateral mandibular second molar agenesis in a healthy 18 year old female patient is presented and literature review on prevalence of most missing teeth with incidence of missing second molar in various regions of the world and in various regions of Indian continent is presented. No such case has been reported in Indian literature so far.

SMAD4 juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia presenting in a middle-aged man as a large fungating gastric mass, polyposis in both upper and lower GI tract and iron deficiency anaemia, with no known family history

2020 ◽  
Vol 13 (12) ◽  
pp. e236855
Author(s):  
Wendy Chang ◽  
Patricia Renaut ◽  
Casper Pretorius
Keyword(s):  
Family History ◽  
Autosomal Dominant ◽  
Signs And Symptoms ◽  
Juvenile Polyposis ◽  
Hereditary Haemorrhagic Telangiectasia ◽  
Gi Tract ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome ◽  
History Of ◽  
Gastric Mass

Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are rare autosomal dominant diseases, where symptoms manifest at childhood. A 32-year-old man with no family history of JPS or HHT with SMAD4 gene mutation who developed signs and symptoms only at the age of 32, when he was an adult. In this article, we highlight the steps taken to diagnose this rare pathology, explain its pathophysiology and management.

scholarly journals Germline Mutations in BMPR1A/ALK3 Cause a Subset of Cases of Juvenile Polyposis Syndrome and of Cowden and Bannayan-Riley-Ruvalcaba Syndromes*

2001 ◽  
Vol 69 (4) ◽  
pp. 704-711 ◽  
Author(s):  
Xiao-Ping Zhou ◽  
Kelly Woodford-Richens ◽  
Rainer Lehtonen ◽  
Keisuke Kurose ◽  
Micheala Aldred ◽  
...  
Keyword(s):  
Germline Mutations ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome

scholarly journals Choledochal Cyst Coexisting with Gallbladder Carcinoma - An Uncommon Case Report

2017 ◽  
Vol 16 (4) ◽  
pp. 602-605
Author(s):  
Jahangir Hossain Bhuiyan ◽  
Mohibul Aziz ◽  
Omar Faruk ◽  
Mahbub Hasan
Keyword(s):  
Choledochal Cyst ◽  
Gallbladder Carcinoma ◽  
Medical Science ◽  
Rare Condition ◽  
Exploratory Laparotomy ◽  
Abdominal Ultrasound ◽  
Low Grade ◽  
College Hospital ◽  
Medical College ◽  
Operative Recovery

Choledochal Cyst is a relatively rare condition. Even rarer is a choledochal cyst in association with a gallbladder carcinoma. This study reports a rare case of choledochal cyst coexisting with gallbladder carcinoma in a Bangladeshi patient. A 35 year old lady presented at IBN Sina Medical College Hospital, Kallyanpur, Dhaka with the history of recurrent right upper quadrant abdominal pain from childhood, which became severe for last 4 days before admission. The pain was colicky in nature and radiated to the back. Episodes were associated with low-grade fever, anorexia as well as vomiting. The preoperative diagnosis was made by abdominal ultrasound and MRCP. Exploratory laparotomy, enbloc cholecystectomy with excision of the choledochal cyst and roux-en-Y hepaticojejunostomy was also done. Post operative recovery was uneventful. Patient was followed up for six months and no obvious complication was noticed. Early suspicion of this rare pancreato-billiary disease is important because surgical treatment is the only way to avoid the complications of the disease.Bangladesh Journal of Medical Science Vol.16(4) 2017 p.602-605

The Prevalence of Hereditary Hemorrhagic Telangiectasia in Juvenile Polyposis Syndrome

2012 ◽  
Vol 55 (8) ◽  
pp. 886-892 ◽  
Author(s):  
Margaret O’Malley ◽  
Lisa LaGuardia ◽  
Matthew F. Kalady ◽  
Joseph Parambil ◽  
Brandie Heald ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Juvenile Polyposis ◽  
Juvenile Polyposis Syndrome ◽  
Polyposis Syndrome
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