Rare Disease

A BLA is expected to be submitted by Q3 of 2024.

Timber Pharmaceuticals has been developing TMB-001 for the treatment of congenital ichthyosis.

The company is set to meet with the FDA in August to discuss the epidermolysis bullosa drug’s anticipated BLA.

Patients with the rare autosomal recessive genodermatosis are prone to extreme photosensitivity and changes in skin pigmentation.

Researchers conducted a review of treatments for the rare disease in the pediatric population.

New pharmacokinetic phase 3 data will be presented at the 2023 Society for Pediatric Dermatology meeting next week.

In rare cases, chromhidrosis may be associated with underlying medical conditions, such as hyperthyroidism, dermatitis herpetiformis, and multiple myeloma.

In the case of one patient, researchers found that topical tapinarof cream demonstrated therapeutic efficacy in nonulcerated necrobiosis lipoidica.

Scientists have found a new therapy for the severe inflammatory skin disorder.

Phase 3 data of Oleogel-S10 was presented in a late-breaking session at AAD 2023 in New Orleans.

Timber Pharmaceuticals is on its way to developing the first FDA-approved treatment for congenital ichthyosis subtypes.

Yale School of Medicine is a testing site for a potential new congenital ichthyosis treatment.

Today is Rare Disease Day. The Food and Drug Administration (FDA) defined a rare disease as a condition affecting less than 200,000 people in the United States.

The autoinflammatory condition is associated with mutations in the NOD2 gene and usually affects children younger than 4 years.

Researchers have linked the neurodegenerative disorder to several autoimmune diseases, including the rare skin condition bullous pemphigoid.

Granulomatous dermatitis includes a group of reactive dermatologic disorders characterized by distinct histopathological patterns, clinical manifestations, and associated diseases.

Pemphigus is defined as a group of autoimmune, blistering disorders caused by circulating autoantibodies that bind to desmogleins, proteins that are vital to epidermal intercellular adhesion.

Preventing generalized pustular psoriasis may be possible based on recent data.

An expert dermatologist reviews generalized pustular psoriasis in 2 patients and how he would approach treatment and management.

Arthritis mutilans, often called resorptive arthritis, is the most severe and rare form of psoriatic arthritis, affecting only about 5-16% of patients.

Erythrodermic psoriasis, affecting about 1-2% of psoriatic patients, is a rare, potentially life-threatening variant of psoriasis.

Harlequin ichthyosis is a rare skin disorder with thick, large, plate-like scales over the entire body that later develop into erythroderma.

Pustular psoriasis (PP) is a rare and potentially serious inflammatory skin disorder affecting about 1% of patients with psoriasis.

Hidradenitis suppurativa is a chronic inflammatory skin condition that presents with painful, deep, and inflamed lesions found in flexural, apocrine gland-bearing sites.

Argyria is a rare dermatologic condition that presents with blue or grey mucocutaneous discoloration following cutaneous exposure or ingestion of silver.

ICYMI, this week we had stories about blastic plasmacytoid dendritic cell neoplasm, epidermolysis bullosa, an interview with Seth Matarasso, MD, and more.

Epidermolysis bullosa is a broad term used to identify a group of genetic disorders that result in skin blistering and fragility.

Erythropoietic protoporphyria (EPP) is a life-long and debilitating disorder resulting from defects in the enzymes in heme synthesis. Patients with the disease are cast indoors due to extreme photosensitivity.

MD is a type of delusional parasitosis where patients report that their skin contains parasites, toxins, fibers, or other foreign material.

Click here to answer this week's poll.