IgG4-Related Sclerosing Disease Causing Spinal Cord Compression: The First Reported Case in Literature by Nooraldin Merza, Ahmed Taha, John Lung, Anthony W. Benderman, Stephen E. Wright

“…It is an extremely rare disease that most frequently affects the pancreas causing autoimmune pancreatitis. …”
Get full text

Langerhans Cell Histiocytosis of the Cranial Base: Is Low-Dose Radiotherapy Effective? by Andreas Meyer, Michael Stark, Johann H. Karstens, Hans Christiansen, Frank Bruns

“…Langerhans cell histiocytosis (LCH) is a rare disease of unknown etiology with different clinical features. …”
Get full text

Adrenal Hemangioma: A Case of Retroperitoneal Tumor by Genta Iwamoto, Kota Shimokihara, Takashi Kawahara, Daiji Takamoto, Masahiro Yao, Jun-ichi Teranishi, Masako Otani, Hiroji Uemura

“…Adrenal hemangioma is a rare disease, with only some 60 cases reported previously. …”
Get full text

A Case of Nasopharyngeal Mycobacteriosis with Bony Erosion of the External Skull Base by Kohei Matsuo, Satoshi Tanaka, Masayuki Sakata, Hiroki Takeda, Akihiro Nagata, Masashi Mori, Rie Ito, Yoshifumi Yamamoto, Kiyonobu Ueno, Atsuhiko Uno

“…Primary nasopharyngeal mycobacteriosis is a rare disease. We present a case in which skull base bone erosion appeared and was alleviated during the course of the treatment. …”
Get full text

Effect of Intranasal Calcitonin in a Patient with McCune-Albright Syndrome, Fibrous Dysplasia, and Refractory Bone Pain by Tayane Muniz Fighera, Poli Mara Spritzer

“…McCune-Albright syndrome (MAS) is a rare disease defined by the triad of polyostotic fibrous dysplasia of bone, café-au-lait skin spots, and precocious puberty. …”
Get full text

Difficult to Treat Focal, Stiff Person Syndrome of the Left Upper Extremity by Nathan E. Esplin, John W. Stelzer, Timothy B. Legare, Sayed K. Ali

“…This case represents a case of a rare disease that was refractory to all known therapies. …”
Get full text

Orofacial Granulomatosis among Pediatric Patients Well Controlled by Corticosteroid Treatment: A Rare Case Series by Taku Kimura, Ken-Ichiro Sakata, Shunichiro Takezaki, Takuya Asaka, Shohei Oshima, Aya Yanagawa-Matsuda, Yoshimasa Kitagawa

“…Orofacial granulomatosis (OFG) is a rare disease entity characterized by nonnecrotizing granulomatous inflammation in the oral and maxillofacial regions, typically characterized by recurrent or persistent edema, primarily in the lips and occasionally in the gingiva. …”
Get full text

A Case of Primary Amyloidosis Involving Liver, Stomach, Intestines, and Heart without Evident Kidney Involvement by L. S. Kholopov, N. B. Gubegrits, O. A. Dyadyk, Yu. E. Chirkov, Yu. V. Tsohoyeva

“…Systemic amyloidosis caused by the synthesis and deposition of immunoglobulin light chains (AL amyloidosis) is a relatively rare disease that involves heart, kidneys, peripheral nervous system, gastrointestinal tract, and has a large number of various clinical manifestations. …”
Get full text

Epidemiological perspectives of amyloidosis in Argentina: a cohort study analysing incidence and mortality patterns among a population affiliated to a medical care programme by María Lourdes Posadas-Martínez, Delfina Cirelli, Florencia De Florio, María Adela Aguirre, Elsa Mercedes Nucifora, Patricia Beatriz Sorroche, María Soledad Sáez, Valeria Inés Aliperti, Jimena Vicens, Marcelina Carretero

“…In addition, an increase in the incidence and mortality rate was observed throughout the period studied.Conclusion The results of this study indicate that amyloidosis remains a rare disease but with an increase in incidence in recent years, especially in elderly people. …”
Get full text

Brazilian Thoracic Association recommendations for the management of lymphangioleiomyomatosis by Bruno Guedes Baldi, Paulo Henrique Ramos Feitosa, Adalberto Sperb Rubin, Alexandre Franco Amaral, Carolina Salim Gonçalves Freitas, Cláudia Henrique da Costa, Eliane Viana Mancuzo, Ellen Caroline Toledo do Nascimento, Mariana Sponholz Araujo, Marcelo Jorge Jacó Rocha, Martina Rodrigues de Oliveira, Tatiana Senna Galvão, Pedro Paulo Teixeira e Silva Torres, Carlos Roberto Ribeiro Carvalho

“…ABSTRACT Lymphangioleiomyomatosis (LAM) is a rare disease, characterized as a low-grade neoplasm with metastatic potential that mainly affects women of reproductive age, in which there is proliferation of atypical smooth muscle cells (LAM cells) and formation of diffuse pulmonary cysts. …”
Get full text

Association of Epicardial Adipose Tissue Thickness with Cardiovascular Risk in Acromegaly by Bulent CAN, Fatma OLCAY COSKUN, Sercin OZKOK, Mumtaz TAKIR

“…Objective: Acromegaly is a rare disease associated with increased mortality. Reports on coronary artery disease in acromegaly are controversial. …”
Get full text

Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman by Patrizia Del Monte, Carla Micaela Cuttica, Alessandro Marugo, Luca Foppiani, Daniela Audenino, Tomasz Tadeusz Godowicz, Francesca Marta Elli, Giovanna Mantovani, Emilio Di Maria

“…Our report illustrates the natural history of a patient with PHP1A, which went undiagnosed until the age of 64 years, with multi-hormonal resistance and clinical sequelae evolving throughout life, and underlines the importance of diagnosing this rare disease, which has a great impact on patients and their family life.…”
Get full text

Malignant Lymphoma in the Parasellar Region by Takao Koiso, Hiroyoshi Akutsu, Shingo Takano, Tetsuya Yamamoto, Eiichi Ishikawa, Yasushi Okoshi, Akira Matsumura

“…T2 hypointensity of a lesion in MR imaging in addition to an elevated serum level of soluble interleukin-2 receptor (sIL-2R) in a patient with a sellar lesion can be useful clues for the differential diagnosis of this rare disease.…”
Get full text

Benign Metastasizing Leiomyoma: A Rare Type of Lung Metastases—Two Case Reports and Review of the Literature by Rokana Taftaf, Sandra Starnes, Jiang Wang, Ralph Shipley, Tariq Namad, Rana Khaled, Nagla Abdel Karim

“…Benign metastasizing leiomyoma (BML) is a rare disease that usually occurs in women of reproductive age. …”
Get full text

Blastomycosis in Quebec (1981–90): Report of 23 Cases and Review of Published Cases from Quebec by G St-Germain, G Murray, R Duperval

“…This survey confirms that blastomycosis is a rare disease in this endemic area and that patterns of therapy are changing.…”
Get full text

Clinical Phenotype of Fucosidosis in Cuba by Víctor Jesús Tamayo Chang, George Alberto Pérez Benítez

“…<strong>Foundation:</strong> fucosidosis is a rare disease, lysosomal storage, with a wide spectrum of clinical findings. …”
Get full text

A Dose-Response Relationship to Radiotherapy for Cutaneous Lesions of Langerhans Cell Histiocytosis by Mark K. Farrugia, Carl Morrison, Francisco Hernandez-Ilizaliturri, Saif Aljabab

“…Langerhans cell histiocytosis (LCH) is a rare disease, afflicting approximately 4.6 and 1-2 per 1 million children and adults, respectively. …”
Get full text

Unusual Cutaneous Manifestations in a Patient with a History of Hepatitis B: A Case of Scleromyxedema and Literature Review by Gao A, Tian X, Lang D, Chen Y

“…The scarcity of epidemiological data and lack of standardized treatment guidelines for SM in China underscore the challenges clinicians face in diagnosing and managing this rare disease. This case reinforces the importance of multidisciplinary collaboration, particularly when co-infections such as HBV are present. …”
Get full text

Vaginal Dysplasia and HIV: An African American and Caribbean American Cohort Study by Lunthita M. Duthely, Jose A. Carugno, Cayla Y. Suthumphong, Erica B. Feldman, JoNell E. Potter

“…Vaginal cancer is a rare disease with poor clinical outcomes and limited therapeutic options. …”
Get full text

A Systematic Literature Review of the Epidemiology, Health-Related Quality of Life Impact, and Economic Burden of Immunoglobulin A Nephropathy by Christina Soeun Kwon, Patrick Daniele, Anna Forsythe, Christopher Ngai

“…**Conclusion:** While economic evidence in IgAN remains sparse, management of ESRD is a major cost driver. IgAN is a rare disease where disease progression causes increasing patient burden, underscoring the need for therapies that prevent kidney function decline and HRQoL deterioration while reducing mortality.…”
Get full text