The Orphan Drug Act of 1983 (ODA) put in place a set of financial and marketing incentives to stimulate the development of drugs to treat rare diseases, and since its passage, more than 600 orphan drug and biologic products have been brought to market in the United States. Rapid growth in orphan drug approvals in conjunction with high orphan drug prices have triggered concern that drug makers are exploiting certain aspects of the ODA for financial gain and that some pharmaceutical drugs are receiving orphan status where it is not warranted. The landscape of approved therapies for rare skin diseases has not been well described. In this article, we provide a descriptive analysis of the United States Food and Drug Administration-approved orphan drugs for the treatment of rare dermatologic conditions and skin-related cancers since the enactment of the ODA. We discuss policy issues that emerge from the analysis and suggest areas for future research. Next, we elucidate ODA loopholes using dermatologic drugs as examples and propose potential reforms. Finally, we consider future directions for orphan drug development in the field of dermatology.

Aplasia cutis congenita (ACC) is a rare disease that is characterized by complete or partial absence of skin at birth, either in a localized or widespread region. Melanocytic nevi refers to tumor-like malformations of the skin or mucous membrane caused by benign proliferation of melanocytes. It is classified as a giant congenital melanocytic nevus (GCMN) when the diameter of the largest nevus exceeds 20 cm. The co-occurrence of ACC and GCMN is extremely rare, to the best of our knowledge. We report a case of coexistence of ACC and GCMN of infancy in a 2-month-old male infant. The lesions consisted of a large hyperpigmented plaque occupying most of the trunk and pelvic region, and smaller hyperpigmented plaques on the trunk, head, and extremities. Additionally, there were large, sharply marginated, triangular, depressed atrophic plaques covered by thin, translucent, glistening epithelial membranes in the center of the GCMN on the back. The presumptive diagnosis was coexistence of GCMN and ACC. This could be a manifestation of SCALP syndrome, a rare neuro-cutaneous condition characterized by the presence of Sebaceous nevus, Central nervous system (CNS) malformations, Aplasia cutis congenita, Limbal dermoid and Pigmented (giant melanocytic) nevus.

Visit for more related articles at Rare Disorders: Diagnosis & Therapy

Kindly submit your article through Editorial Tracking or through raredisord@emedicalscience.com

With Regards
Sofia
Journal Co-ordinator
Journal of Rare Disorders: Diagnosis & Therapy