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Nail patella-like renal disease — Clinical Guidelines

Overview

Nail-patella syndrome (NPS) is a rare genetic disorder characterized by nail dysplasia, patellar abnormalities, skeletal malformations, and chronic pain, often exacerbated by musculoskeletal and potential neurological dysfunction 1.

Diagnosis

Clinical features include dysplastic nails, absent or improperly formed patellae, skeletal anomalies, and chronic pain 1 7.

Imaging studies (e.g., X-rays) may help identify skeletal abnormalities 7.

Histological examination of nail samples can provide additional diagnostic insights, though specific techniques vary internationally 5.

Management

First-line treatments: Conventional analgesics for pain management; however, efficacy may be limited 1.

Adjunctive treatments: Synthetic cannabidiol (CBD) shows promise for pain relief, with a median dose of 900 mg/day resulting in significant pain reduction (mean pain score reduction from 7.04 to 4.04) over 3 months 1.

Quality of life: CBD treatment correlates with improved health-related quality of life and other NPS symptoms 1.

Special Populations

Pediatrics: Specific management pearls for pediatric nail diseases may offer guidance, though direct NPS pediatric management is not detailed 4.

Comorbidities: No specific guidance provided for comorbidities in NPS patients within the abstracts 1 7.

Key Recommendations

Consider synthetic cannabidiol (CBD) as an adjunctive therapy for managing chronic pain in NPS patients, with a median dose of 900 mg/day, showing significant pain reduction (Evidence: Moderate) 1.

Utilize imaging studies like X-rays to identify and monitor skeletal anomalies associated with NPS (Evidence: Expert opinion) 7.

Employ standardized nail histology processing techniques, including formalin fixation and H&E staining, for diagnostic purposes, though specific techniques may vary (Evidence: Weak) 5.

References

1 Lebret T, Hatton S, Callebert J, Cormier-Daire V, Greco C. Evidence for therapeutic use of cannabidiol for nail-patella syndrome-induced pain in a real-world pilot study. Scientific reports 2024. link 2 Baltz JO, Rubin A, Adigun C, Daniel CR, Hinshaw M, Knacksedt T et al.. Expert Consensus on Nail Procedures and Selection of CPT Codes. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] 2021. link 3 Ricardo JW, Lipner SR. Nail Surgery Myths and Truths. Journal of drugs in dermatology : JDD 2020. link 4 Oberlin KE. Pediatric nail diseases: clinical pearls. Cutis 2017. link 5 Wlodek C, Lecerf P, Andre J, Ruben BS, de Berker D. An international survey about nail histology processing techniques. Journal of cutaneous pathology 2017. link 6 Goodman GJ, Nicolopoulos J, Howard A. Diseases of the generative nail apparatus. Part II: nail bed. The Australasian journal of dermatology 2002. link 7 Richieri-Costa A. Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: report of a Brazilian family. American journal of medical genetics 1991. link 8 Green ST, Natarajan S. Bilateral first-rib hypoplasia: a new feature of the nail-patella syndrome. Dermatologica 1986. link

Nail patella-like renal disease