International Journal of

Rare Diseases and DisordersISSN: 2643-4571


 Open Access DOI:10.23937/2643-4571/1710045

Fahr's Syndrome Presenting with Dementia and Severe Hypocalcemia Decades after Total Thyroidectomy in A Woman Affected by Chronic Renal Failure and Psoriatic Arthritis: A Precipitating Role for Risankizumab?

Maurizio Giorelli, Tommaso Scarabino, Donato Iacobone and Pasquale Difazio

Article Type: Case Report | First Published: June 15, 2022

It may exist in an idiopathic form or it can be associated to calcium dysmetabolism due to parathormone (PTH) defect or signaling. Symptoms may span from parkinsonism to psychiatric syndromes, ataxia, convulsive seizures and dementia....

 Open Access DOI:10.23937/2643-4571/1710044

Very Rare Cause of Fixed Obstruction and Severe Asthma: A Case with Keutel Syndrome

Aysegul Canoglu1, Adem Dirican, MD, Sevket Ozkaya, MD and Ali Kutlu, MD

Article Type: Case Report | First Published: June 15, 2022

Keutel syndrome is rare inherited disorder with mutations in the matrix G1a protein (MGP). Most of the patient is diagnosed in early childhood. They admitted to the hospital due to hearing loss, recurrent upper respiratory tract infections, chronic cough....

 Open Access DOI:10.23937/2643-4571/1710043

Predictors of Quality of Life of Children and Adolescents with Osteogenesis Imperfecta

Juliana van de Sande Lee, MD, MSc, Genoir Simoni, MD, Ana Paula Vanz, MSc, Têmis Maria Félix MD, PhD, João Carlos Xikota, MD, PhD, Sílvia Modesto Nassar, TI, PhD, Maria Luiza Cimardi Rupp and Maria Marlene de Souza Pires, MD, PhD

Article Type: Original Article | First Published: April 22, 2022

Knowing the predictors of quality of life (QoL) of children with osteogenesis imperfecta (OI) can optimize their treatment. The present study evaluated a longitudinal cohort of children and adolescents in a reference center for OI. The results showed that we must target reducing fractures and pain and focus on rehabilitation. To evaluate the predictors of quality of life (QoL) of children and adolescents with osteogenesis imperfecta (OI). Descriptive cross-sectional study. Data were taken from a...

 Open Access DOI:10.23937/2643-4571/1710042

Follicular Mucinosis in Childhood: A Rare, but Significant Diagnosis

Maria Luiza Cimardi Rupp, Marice El Achkar Mello, MD, Amanda Amaro Pereira, MD, Maria Marlene de Souza Pires, MD, PhD

Article Type: Case Report | First Published: April 21, 2022

Follicular mucinosis (FM) is a rare cutaneous disease with unclear etiology; it was firstly described by Pinkus, et al. in 1957, who named it mucinous alopecia, referring to a characteristic process of the FM, which leads to alopecia. As this process was not seen on all developments of the disease, in 1959 Jablonska, et al. proposed to name it Follicular mucinosis. Follicular mucinosis is uncommon in children. Using the online searching databases Scielo and PubMed, during the past 10 years, only...

 Open Access DOI:10.23937/2643-4571/1710041

The Rare Disease Advisory Council Expands its Reach into West Virginia Appalachia: A Call to Action

Nadia Falah, MD

Article Type: Letter to the Editor | First Published: April 21, 2022

Patients with rare diseases in rural Appalachia face an additional hurdle in getting care. West Virginia is the only state wholly within the Appalachian region, which is noted for having some of the nation's worst health disparities. The West Virginia Advisory Council on Rare Diseases was established in January 2020 as part of the Rare Disease Advisory Council (RDAC) Acts, with the goal of developing strategies and recommendations to reduce health inequalities among West Virginians with rare dis...

 Open Access DOI:10.23937/2643-4571/1710040

Yellow Nail Syndrome: When Management Seems More Intriguing Than the Diagnosis

Konstantinos Porpodis, Ioanna Filippou, Ioanna Tsiouprou and Theodore Kontakiotis

Article Type: Case Series | First Published: April 08, 2022

Yellow nail syndrome is a rare condition of unknown etiology, which is defined by the triad of yellow, slowly growing thickened nails, lymphedema, and respiratory manifestations. In order to strengthen the literature on this topic, we report the case of a 64-year-old man with yellow nail syndrome and recurrent pleural effusion. The patient was referred to the Emergency Department because of dry cough and gradually worsening dyspnea over the previous two months. A diagnosis of yellow nail syndrom...

 Open Access DOI:10.23937/2643-4571/1710039

Peripheral T-Cell Lymphomas in Algeria: Results from a Multicenter Registry Study

Nadia Boudjera Belarbi, Mohamed Amine Bekadja, Mohanad Tayeb Abad, David Webb and Fatiha Grifi

Article Type: Case Series | First Published: March 24, 2022

Peripheral T-cell lymphomas (PTCLs) are a rare and heterogeneous group of aggressive malignancies derived from mature (postthymic) T lymphocytes. Currently, there are no published data describing the clinical characteristics and outcomes of Algerian patients with PTCL. To describe the clinical characteristics and treatment outcomes of patients included in an Algerian PTCL registry. Multicenter, non-interventional, cohort registry study of all patients with a diagnosis of PTCL attending four spec...

Volume 5
Issue 1