International Journal of

Rare Diseases and DisordersISSN: 2643-4571

Archive

 Open Access DOI:10.23937/2643-4571/1710061

Heterotopic Ossification in a 2-year-old girl: Fibrodysplasia Ossificans Progressiva

Mridul Singh, Anushka Aggarwal, Sneha Bhosale, Meera Shah, Renu Kumawat, Anita Mahajan and Sundeep Upadhayaya

Article Type: CASE REPORT | Indexed Archive: Volume 7

We report a case of a two-year-old girl presenting with progressive multiple bony swellings over the neck and back, diagnosed as Fibrodysplasia ossificans progressiva (FOP) based on radiological and genetic tests. FOP is an extremely rare disorder of heterotopic ossification which leads to progressive immobility. Efforts to correct deformities by surgical resection further stimulate new bone formation and lead to clinical worsening. Classically, FOP presents as malformation of the great toes and...

 Open Access DOI:10.23937/2643-4571/1710060

A Challenging Rare Case: Rosai-Dorfman Disease Presented as a Single Osseus Lesion in a 16-Month-Old Boy

Lili Miles, MD, Caroline Baughn, MD, Gleidson Silva, MD, Dorothea L. Douglas, MD and Lei Shao, MD

Article Type: Case Report | Indexed Archive: Volume 7

Sinus histiocytosis with massive lymphadenopathy (also known as Rosai-Dorfman disease (RDD)), a rare non-Langerhans cell histiocytosis, was originally recognized in 1969 by Rosai and Dorfman. RDD is characterized by the accumulation of activated histiocytes in various tissues and organs, but most commonly in lymph nodes. RDD is subclassified in two forms. The more common form, nodal RDD, and the rare form, extranodal RDD, which is based on the presence of extranodal tissue involvement. Most extr...

 Open Access DOI:10.23937/2643-4571/1710059

Researching Fabry Disease in Autosomal Dominant Polycystic Kidney Disease Patients

Yakup Özgüngör and Abdulmecit Yildiz

Article Type: Original Article | Indexed Archive: Volume 7

This study aims to determine the frequency of Fabry disease misdiagnosis with autosomal dominant polycystic kidney disease (ADPKD). Additionally, the study aims to characterize the clinical and biochemical features of Fabry disease patients initially diagnosed with ADPKD....

 Open Access DOI:10.23937/2643-4571/1710058

Craniofacial Fibrous Dysplasia: Is Alkaline Phosphatase an Accurate Marker of Disease Activity?

Wyatt Nice, Kezia Daniel, Kathleen Brindle and Rodolfo Curiel

Article Type: Case Report | Indexed Archive: Volume 7

Fibrous dysplasia is a rare benign bone condition in which mature bone is replaced with fibrous tissues. Disease activity is most prominent in the first three decades of life before becoming inactive. Elevations in alkaline phosphatase have been known to be present during times of active disease, however, the clinical utility of using alkaline phosphatase to monitor disease progression remains unclear. We present the case of a 72-year-old woman with a history of craniofacial fibrous dysplasia cl...

 Open Access DOI:10.23937/2643-4571/1710057

Navigating Rarity: Extranodal Presentation of Castleman Disease

Kovuri Umadevi, Lavanya Motrapu, Mohd Imran Ali and Rajarikam Nagarjunachary

Article Type: Case Report | Indexed Archive: Volume 7

Castleman disease (CD) is a rare lymphoproliferative disorder, originally described by Dr. Benjamin Castleman, characterized predominantly by enlarged mediastinal lymph nodes with unknown etiology. While it commonly affects mediastinal lymph nodes, occurrences in neck lymph nodes are less frequent, and presentation in the extremities is exceptionally rare. This report presents a case of a 55-year-old female with a 15-year history of a solitary swelling in her right arm. ...

Volume 7
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