PA33 When bones speak through nails: insights from a paediatric case series

Abstract Congenital nail anomalies can signal underlying developmental or genetic conditions. Dermatologists have a fundamental role in identifying these abnormalities and their potential association with deeper structural anomalies, including skeletal abnormalities. This case series describes three paediatric patients referred for congenital nail changes, where dermatological evaluations revealed underlying developmental or genetic issues. Case 1 is a 4-year-old boy who presented with nail dystrophy affecting the second, third and fourth fingers of his left hand. These were noted at birth and progressed to onychogryphosis. Trimming proved difficult, and the nails experienced repeated cycles of painful bleeding and shedding. Examination showed shortened, thinner distal phalanges, which appeared underdeveloped on X-ray imaging. A multidisciplinary evaluation diagnosed symbrachydactyly, a rare congenital hand malformation characterized by hypoplastic digits and rudimentary nubbins. Recurring symptoms necessitated the removal of the nail plate followed by ablation. Case 2 is a 2-month-old boy who was referred with an absent left middle toenail noticed at birth. Examination showed anonychia and a smaller left middle toe, prompting consideration of isolated developmental bony defect. The patient was referred to the congenital limb clinic for further evaluation. Case 3 is a 4-year-old girl who was referred for anonychia of the second left toenail and dystrophy of the left middle toenail, accompanied by patchy hair loss. Additional examination revealed a smaller left foot, changes in other left toenails, central stellate scarring alopecia of the scalp, and mild acral cutis marmorata. These findings raised suspicion of Adams–Oliver syndrome, a rare condition characterized by a combination of congenital distal limb reduction and scalp defects. Genetic testing was performed, and results are pending. Dermatologists play a pivotal role in recognizing congenital nail changes and detecting the possibility of an underlying structural or genetic disorder. During embryonic development, nail and digit bone development are tightly regulated by ectodermal–mesodermal signalling, disruptions of which – due to genetic mutations, vascular insults or environmental factors – can result in nail and/or skeletal defects. These cases highlight how careful evaluation of nail abnormalities can uncover underlying developmental anomalies or genetic syndromes. Congenital nail abnormalities should lead dermatologists to reflect on possible developmental and genetic consequences. Comprehensive assessment is essential for early detection, precise diagnosis and effective management, ultimately enhancing patient care.