Alan Mendelsohn, MD, Chief Medical Officer at Timber Pharmaceuticals, gives a detailed overview of congenital ichthyosis.

As Dr. Mendelsohn explains, congenital ichthyosis is a rare genetic skin disorder characterized by dry, thickened, and scaling skin. Individuals with this condition may experience limited range in motion, chronic itching, an inability to sweat, and increased risk of infections. Congenital harlequin ichthyosis is a devastating subtype where skin over the entire body is thickened which can inhibit eating and breathing.

Dr. Mendelsohn also notes that there is no approved targeted therapy for congenital ichthyosis. Symptom management for the condition is most often achieved with topical treatments (e.g., emollients, keratolytics, frequent baths, pumice stones) aimed at reducing the scaling and/or improving skin lubrication.

To learn more about congenital ichthyosis and other rare skin disorders, visit https://checkrare.com/diseases/skin-conditions/