Rare Diseases in Dermatology: New and Emerging Therapies

For Rare Disease Day on February 29, Topical Conversations will be exploring some of the rare diseases seen in dermatology. In this installment, James Q Del Rosso, DO, reviews some new and emerging therapies for congenital ichthyoses, epidermolysis bullosa, and facial angiofibromas related to tuberous sclerosis. 

Watch Part 1 to hear Dr Todd Schlesinger discuss subacute cutaneous lupus erythematosus and dermatomyositis.

Watch Part 2 to hear Dr Naiem Issa discuss tuberous sclerosis complex and a breakthrough new treatment.

An emerging therapy for congenital ichthyoses 

Dr Del Rosso begins by reviewing an emerging treatment for congenital ichthyoses, a group of rare genetic keratinization disorders that leads to dry, thickened, and scaling skin and requires lifelong management. 

The Phase 3 ASCEND study is currently underway and focusing on 2 moderate-to-severe subtypes, lamellar ichthyosis and X-linked ichthyosis, that affect about 80,000 individuals in the United States. The ASCEND study is investigating the efficacy and safety of a topical isotretinoin, TMB-001, in a patented special delivery system. 

A topical formulation of isotretinoin may help reduce systemic absorption, potentially allowing for chronic use over larger areas of the body and shows promise for those affected by congenital ichthyoses. 

A new approval for epidermolysis bullosa 

Dr Del Rosso also lauds a newly approved therapy for epidermolysis bullosa, a topical gel birch triterpenes for the treatment of partial thickness wounds in patients 6 months and older with junctional epidermolysis bullosa and dystrophic epidermolysis bullosa. 

As the first FDA-approved treatment for wounds associated with junctional epidermolysis bullosa, topical gel birch triterpenes is a promising development for patients facing daily challenges from open wounds, one of the most visible and difficult-to-manage symptoms of epidermolysis bullosa. 

A topical option for facial angiofibromas 

Another recent approval making progress for rare diseases in dermatology is a topical sirolimus gel for the treatment of facial angiofibromas associated with tuberous sclerosis. By inhibiting the mTOR pathway that leads to cellular proliferation, this therapy, approved for 6 years of age and older, is a significant step forward in managing cutaneous manifestations of tuberous sclerosis.