Marantic Endocarditis: A Rare Early Presentation Of Invasive Ductal Carcinoma Of The Breast by Madiha Butt, Zahra Rafique, Fazeelat Iftikhar, Farooq, Khadija Rafique, Muhammad Adil

“… Non-bacterial thrombotic endocarditis also known as Libman-sack endocarditis is a rare disease involving mostly mitral and aortic valves. …”
Get full text

Primary Esophageal Lymphoma: A Histopathological Experience from Two Tertiary Hospitals, Western Saudi Arabia by Jaudah Al-Maghrabi, Sahar Al-Maghrabi

“…PEL is an extremely rare disease with male predominance. DLBCL is the most common pathological type in our community. …”
Get full text

Oral Surgery Procedures in a Patient Affected by Hereditary Angioedema Type I by Chiara Cinquini, Simonetta Santarelli, Alberto Marianelli, Marco Nisi, Mario Gabriele, Antonio Barone

“…Hereditary Angioedema (HAE) is a rare disease characterized by a deficiency or a reduced function of the plasma protein C1 esterase inhibitor (C1-INH), which is involved in the downregulation of several inflammatory pathways. …”
Get full text

Combination of metagenomic next-generation sequencing and morphology for identifying Coccidioides immitis: a case report by Hong Liu, Kaixin Zhou, Chaoran Zhong, Ming Guan

“…As coccidioidomycosis is a rare disease in China, its pathogen-specific diagnostic methods are limited. …”
Get full text

Rosai-Dorfman Disease: Self-Resolving Unilateral Lymphadenopathy and a Brief Review of Literature by Joshua Feriante, Richard T. Lee

“…We therefore advocate observation as a mainstay of treatment for most cases of this rare disease with intervention only being pursued in symptomatic cases. …”
Get full text

Osmotic Demyelination Syndrome due to Rhabdomyolysis and Hyperosmolar Hyperglycemic Syndrome following Cardiogenic Shock by Kosuke Katano, Nozomi Fuse, Yoshitaka Asano, Kimihiro Osada, Akira Miyabe, Ryuma Ishihara, Atsushi Tosaka, Yuriko Satoh, Masako Maeda, Taisuke Mizumura, Akio Oshima, Toshitake Tamamura, Yoichi Sugimura

“…Osmotic demyelination syndrome (ODS) is a relatively rare disease that causes rapid demyelination, resulting in pontine and central nervous system damage with various symptoms, including impaired consciousness. …”
Get full text

Foudroyant Course of an Extensive Clostridium septicum Gas Gangrene in a Diabetic Patient with Occult Carcinoma of the Colon by Maximilian Hartel, Asad Kutup, Axel Gehl, Jozef Zustin, Lars G. Grossterlinden, Johannes M. Rueger, Wolfgang Lehmann

“…Spontaneous gas gangrene is a rare disease in which Clostridium septicum frequently can be detected. …”
Get full text

Incidence of Stroke in Young Adults: A Review by Carmine Marini, Tommasina Russo, Giorgio Felzani

“…Stroke in subjects under 45 years of age is not such a rare disease and requires specific preventive programs.…”
Get full text

Porphyria Cutanea Tarda in a Patient with End-Stage Renal Disease: A Case of Successful Treatment with Deferoxamine and Ferric Carboxymaltose by Natacha Rodrigues, Fernando Caeiro, Alice Santana, Teresa Mendes, Leonor Lopes

“…Porphyria cutanea tarda (PCT) is a rare disease, with a strong association with hepatitis C virus. …”
Get full text

A Case of a Spinal Extradural Arachnoid Cyst by Yousuke Kojimahara, Shintaro Tsuge, Keiji Hasegawa, Katsunori Fukutake, Kazumasa Nakamura, Akihito Wada, Hiroshi Takahashi

“…A spinal extradural arachnoid cyst (SEAC) is a relatively rare disease. This case shows that surgical ligation of a communicating tract and cystectomy are necessary and contrast-enhanced CT was useful for the identification of the position of the communication pathway before surgery.…”
Get full text

Large Granular Lymphocytic Leukemia: A Report of Response to Rituximab by Uroosa Ibrahim, Sara Parylo, Shiksha Kedia, Shafinaz Hussein, Jean Paul Atallah

“…A response to rituximab in refractory cases such as ours has been reported and may guide us towards exploring other immune-based therapeutics in this rare disease.…”
Get full text

Rectal Ischemia Mimicked Tumor Mass by Nicolaos Zikos, Panagiota Aggeli, Evangelia Louka, George Pappas-Gogos

“…Ischemic proctitis is a rare disease which is usually encountered in elderly with comorbidities. …”
Get full text

Oral Capecitabine Achieves Response in Metastatic Eccrine Carcinoma by Kristian Larson, Hani M. Babiker, Andrew Kovoor, Joy Liau, Jordan Eldersveld, Emad Elquza

“…We wish to highlight this rare disease and discuss presentation, diagnosis, and management as it is most often misdiagnosed leading to advanced metastatic disease when patients present to the oncologist. …”
Get full text

Rapid Destruction of the Humeral Head Caused by Subchondral Insufficiency Fracture: A Report of Two Cases by Kenichi Goshima, Katsuhiko Kitaoka, Junsuke Nakase, Hiroyuki Tsuchiya

“…Rapidly destructive arthritis (RDA) of the shoulder is a rare disease. Here, we report two cases, with different destruction patterns, which were most probably due to subchondral insufficiency fractures (SIFs). …”
Get full text

Three-Dimensional Ultrasound Findings in Cornelia de Lange Syndrome: A Case Report by Yoichiro Akahori, Hisashi Masuyama, Yumi Masumoto, Yuji Hiramatsu

“…Through detailed observation including abnormalities of fingers, we could exemplify this very rare disease as an antenatal diagnoses for fetal growth retardation.…”
Get full text

Case Report: Innovative anesthetic approaches for whole lung lavage in an infant with pulmonary alveolar proteinosis by Jiaxiang Chen, Xiaoli Shi, Youbing Tu, Yuanzhen Chen, Xueqing Wang, Jing Shen, Liang Xu, Ligang Meng

“…IntroductionPulmonary alveolar proteinosis (PAP) is a rare disease in infancy characterized by the accumulation of lipoprotein material within the alveoli, leading to impaired gas exchange, ventilation-perfusion mismatch, and, in severe cases, respiratory failure that may result in death. …”
Get full text

Estimating the Burden of Cost in Chronic Graft-versus-Host Disease: A Human Capital Approach by Chris A. Jones, Luca P. Fernandez, Peter Weimersheimer, Neil A. Zakai, Michael Sharf, Oscar A. Mesa, Christian Peters, Antonio di Carlo, Mitchell C. Norotsky

“…Our choice of a ten-year time horizon is novel to the field of rare disease and was determined to be meaningful after consultations with present co-authors, including five physicians, one of whom is a transplant surgeon. …”
Get full text

Gender and Ocular Manifestations of Connective Tissue Diseases and Systemic Vasculitides by Maria M. Choudhary, Rula A. Hajj-Ali, Careen Y. Lowder

“…Systemic sclerosis is a rare disease but, again, it is more common in women with a female to male ratio of 8 : 1. …”
Get full text

PHYLLOID TUMORS OF MAMMARY GLANDS. CURRENT STATE OF THE PROBLEM by A. D. Zikiryakhodzhaev, I. M. Shirokikh, N. V. Kharchenko, G. M. Zapirov, E. K. Saribekyan, N. V. Ablitsova, A. V. Ermakov, M. A. Kunda, V. S. Sidorenko, H. S. Gevorgyan

“…Phylloid (leaf-shaped) breast tumors are a rare disease and constitute 0.3–0.5% of all breast tumors. …”
Get full text

A Newborn with Cleft Palate Associated with PTEN Hamartoma Tumor Syndrome by Ulf Nestler, Daniel Gräfe, Vincent Strehlow, Robin-Tobias Jauss, Andreas Merkenschlager, Annika Schönfeld, Florian Wilhelmy

“…<b>Conclusion</b>: Since the amount of prospective data remains limited, and the estimation of tumor risk during infancy and adulthood is very difficult, we advocate for early and broad genetic testing in suspected cases, to gain more insights into this rare disease and allow for better counseling for patients and their families.…”
Get full text