Faculty Bibliography

Spinal muscular atrophy type 0 is the most severe phenotype of the disease, with patients presenting with contractures, weakness, and respiratory failure at birth, and is typically fatal within weeks. We describe the case of a patient with spinal muscular atrophy type 0 who was treated with both nusinersen and onasemnogene abeparvovec. She has made modest motor improvements since treatment initiation with a 30-point improvement in CHOP-INTEND score, and continues to make motor gains at age 13 months without regression of function, although she remains profoundly weak. Although she has had motor improvements, she has also had continued systemic complications from her spinal muscular atrophy, including chronic respiratory failure, dysphagia, congenital heart malformation, digit necrosis, and diffuse macular rash. This case highlights the challenges in treating those with more severe disease phenotypes and raises questions of how some systemic complications may respond to current SMN replacement therapies.

PURPOSE OF REVIEW:Nail disorders represent an uncommon subset of complaints seen in pediatric dermatology. There is a wide array of disorders that can affect the nail unit in children, including infectious, inflammatory, neoplastic, congenital, and traumatic processes. In order to enhance familiarity with pediatric nail conditions, we review the background and treatment of the more common entities seen in pediatric onychology, including onychomycosis, onychomadesis, nail psoriasis, trachyonychia, longitudinal melanonychia, onychophagia, and onychocryptosis. RECENT FINDINGS:Nail involvement in pediatric patients with psoriasis may indicate increased risk for both overall disease severity and the development psoriatic arthritis. In the evaluation of longitudinal melanonychia, the clinical findings that raise concern for subungual melanoma in adults are often found in benign nail unit nevi in children. In the systemic treatment of pediatric onychomycosis, new data raises the possibility that laboratory monitoring may be approached differently. In the approach to onychophagia, emerging pharmacotherapies include N-acetylcysteine. SUMMARY:Most nail disorders in pediatric patients have an overall favorable prognosis. However, nail abnormalities can lead to patient and parental anxiety, decreased quality of life, pain, and functional impairment. Clinicians should be aware of these more common diverse entities in order to identify them and apply state of the art management for these issues. Additionally, the reader will learn factors related to these nail disorders, which may require systemic work-up and/or specialist referral.