Skin Conditions

Disease overviews, clinically relevant perspectives, and news on the most important research in rare skin conditions.
Jun 18, 2025| Posted in: Congenital And Genetic Conditions, Regulations, Skin Conditions, Treatment

FDA Approves Garadacimab for Hereditary Angioedema

The U.S. Food and Drug Administration (FDA) has…
Jun 16, 2025| Posted in: Advocacy, Autoimmune / Autoinflammatory Disorders, Skin Conditions

Patient Experience With Stevens-Johnson Syndrome

Katie Niemeyer, patient advocate, discusses her experience with…
Jun 4, 2025| Posted in: Autoimmune / Autoinflammatory Disorders, Congenital And Genetic Conditions, Diagnosis, Skin Conditions

Genetic Testing for WHIM Syndrome

Jolan Walter, PhD, MD, Division Chief of Pediatric…

Recent Videos

Consider Rare: Suspecting and Diagnosing Hereditary Angioedema

Hereditary angioedema (HAE) is a rare condition often due to reduced levels C1-inhibitor, which is a protein involved in various physiological processes in plasma, most notably with the complement system.

WHIM Syndrome: Overview, Diagnosis, and Management

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence. However, due to the heterogeneous presentation of the disease, coupled with lack of awareness of the condition, recognition and diagnosis is often delayed.

Cutaneous T-Cell Lymphoma

Cutaneous T-cell lymphoma (CTCL) belongs to the non-Hodgkin lymphoma class of hematologic T-cell lymphoproliferative disorders.[1] Cutaneous T-cell lymphoma is a rare group of malignancies, with an incidence of 6.4 cases per 1 million people. This form of T-cell lymphoma represents around 70% of primary cutaneous lymphomas.

Learn About WHIM Syndrome

WHIM syndrome is a rare, congenital primary immunodeficiency disorder associated with neutropenia that typically presents in childhood or adolescence, predominantly caused by pathogenic variants in the CXCR4 chemokine receptor gene.

 

Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial giant cell tumor (TGCT) is a non-malignant tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).[1-5]

Improving Health Equity in Hereditary Angioedema (HAE): A Panel Discussion

This panel discussion by three clinical research leaders in HAE, Drs. Aleena Banerji, Timothy Craig, and Marc Riedl, provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward.

Optimizing the Efficacy and Safety of Therapy for Fabry Disease

Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body’s cells, called globotriaosylceramide or GL-3. The disorder affects many parts of the body.

Skin Conditions

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Social Wall

Robert Mitchell-Thain, chair of the PBC Foundation, discusses how linerixibat reduces itching in patients with primary biliary cholangitis (PBC).

https://checkrare.com/linerixibat-reduces-itching-in-patients-with-pbc/

#CheckRare #RareDisease #RareGastrointestinal #RareAutoimmune

Has your patient been diagnosed with immunoglobulin A nephropathy (IgAN), or Berger’s disease? They may be eligible to take part in a new clinical research study evaluating an investigational treatment option that may help manage and slow disease progression. See if they may be eligible to help ...advance research for the IgAN community. Click here to see if they may qualify.

https://icanclinicalstudy.alexionclinicaltrials.com/?utm_source=CheckRare&utm_medium=Social&utm_content=Awareness&utm_campaign=ICAN

Leticia Orsatti, MD, discusses results from clinical trials examining the safety and efficacy of nerandomilast to treat patients with idiopathic pulmonary fibrosis (IPF) or progressive pulmonary fibrosis (PPF).

...https://checkrare.com/evaluating-nerandomilast-in-patients-with-rare-pulmonary-fibrotic-conditions/

#CheckRare #RareLung #RareDisease

The FDA has recently approved the following.

Stay up to date with upcoming PDUFA dates at https://checkrare.com/2025-orphan-drugs-pdufa-dates-and-fda-approvals/

#CheckRare #RareDisease #FDAApprovals

The FDA Priority Review Voucher (PRV) program aims to incentivize the development of drugs for rare pediatric and tropical diseases. PRVs act as a way to skip to the front of the FDA’s line to have a future drug reviewed.

Click here to visit CheckRare’s chart tracking issued PRVs and ...their current status https://checkrare.com/priority-review-voucher/

#CheckRare #RareDisease #PriorityReview

Matt Winton, PhD, Senior Vice President and Chief Operating Officer of Inozyme Pharma, discusses results from an analysis characterizing disease severity and progression in patients with ENPP1 deficiency.

...https://checkrare.com/disease-severity-and-progression-in-patients-with-enpp1-deficiency/

#CheckRare #ENPP1 #RareMetabolic #RareGenetic

NEW: Check out our Rare Disease Recognition and Awareness Days page to stay up to date on the latest rare disease awareness programs.

https://checkrare.com/rare-disease-awareness-days-and-recognition-page/

#CheckRare #RareDisease #RareDiseaseAwareness

Erin Sullivan, Executive Director of Sisters’ Hope Foundation, discusses her family’s experience with adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP).

https://checkrare.com/a-familys-experience-with-alsp/

#CheckRare #ALSP #RareNeurology ...#RareGenetic

Genetic Testing for WHIM Syndrome: reducing barriers, proper panel analysis, and how to deal with variants of uncertain significance.

Learn more at https://checkrare.com/genetic-testing-for-whim-syndrome/

#CheckRare #WHIMSyndrome #RareGenetic #RareAutoimmune #RareSkin

💡Rare Disease Spotlight: SYNGAP1-Related Disorders

Learn more about this rare disease with our latest article https://checkrare.com/the-current-landscape-of-syngap1-related-disorders/

#CheckRare #RareDisease #SYNGAP1 #RareNeurology #RareGenetic

📢Tomorrow, June 10th at 1:00pm EST

Join us for a Live CME Webinar on Skeletal Involvement in Lysosomal Disorders with Ozlem Goker-Alpan, MD, and Ravi Kamath, MD, PhD.

Click the link to sign up: https://us06web.zoom.us/webinar/register/WN_fCXmUAdMTdysE_HnDniVJw#/registration
...
#CheckRare #LiveCME #RareDisease

Annette Bakker, PhD, Chief Executive Officer of the Children’s Tumor Foundation, discusses repurposing shelved assets for rare diseases.

https://checkrare.com/repurposing-shelved-assets-for-rare-diseases/

#CheckRare #RareDisease

Kimberly LeBlanc, Genetic Counselor, Director of the UDN Coordinating Center at Harvard Medical School, discusses approaching variants of uncertain significance in rare diseases.

https://checkrare.com/the-undiagnosed-disease-network/

#CheckRare #UndiagnosedDiseaseNetwork #UDN ...#RareDisease

Sanjay Ahuja, MD, Pediatric Hematologist, Innovative Hematology and the IHTC, discusses the U.S. FDA approval of Qfitlia (fitusiran) for patients with hemophilia A or B.

https://checkrare.com/phase-3-studies-lead-to-approval-of-fitusiran-for-hemophilia-a-and-b/

#CheckRare ...#RareHematology #Hemophilia

The U.S. Food and Drug Administration has recently approved the following treatments.

Stay up to date with new rare disease treatments approvals at https://checkrare.com/2025-orphan-drugs-pdufa-dates-and-fda-approvals/

#CheckRare #FDAApproval #RareDisease

Yuliya Linhares, MD, chief of Lymphoma Services at Miami Cancer Institute, provides an overview of cutaneous T-cell lymphoma #CTCL and discusses some strategies for shortening the diagnostic journey of this rare cancer. #CheckRare #RareDisease
...https://checkrare.com/ctcl-shortening-the-diagnostic-journey-and-starting-treatment-early/

The I CAN Study is now enrolling adults diagnosed with immunoglobulin A nephropathy (IgAN) to evaluate an investigational study treatment option that may improve kidney function and slow the progression of the disease in adults. Click here to learn more.

...https://icanclinicalstudy.alexionclinicaltrials.com/?utm_source=CheckRare&utm_medium=Social&utm_content=Awareness&utm_campaign=ICAN

David Curren, patient advocate and board member for Breath of Hope Rhode Island, discusses his grandson’s diagnostic journey with idiopathic pulmonary hemosiderosis.

https://checkrare.com/a-patients-diagnostic-journey-with-idiopathic-pulmonary-hemosiderosis-iph/

#CheckRare ...#RareLung #IPH