Serrano Antonio Filipe, Serrano Pedro Manuel
Medical Department - USF Lidador, ACeS Grande Porto III Maia/Valongo, Maia, Portugal.
Orthopedic Department - Centro Hospitalar Universitário do Porto, Porto, Portugal.
Int Med Case Rep J. 2021 Dec 29;14:871-876. doi: 10.2147/IMCRJ.S345262. eCollection 2021.
Hereditary osteo-onychodysplasia (or nail patella syndrome) is a rare autosomal dominant disease defined by an association of severe characteristics, with a classic clinical tetrad of dysplasia of the fingernails, patellar hypoplasia or absence, presence of iliac horns, and deformities of the elbow, although renal, ocular and neurological involvement may also be present. The main orthopedic complaint of these patients is patellar instability associated with pain and functional limitation. Most of the literature regarding the treatment of NPS-related patellar problems, concerns pediatric population and there is no treatment algorithm defined for adult patients. NPS has a wide range of presentations in skeletally mature patients, and its severity is also very variable. The general practitioner should be familiar with NPS's clinical presentation spectrum, and the orthopedic surgeon with treatment options, in order to provide the most adequate treatment for each patient. Although there is no cure for NPS, several treatments have been useful in the symptomatic treatment of changes in the knees. We describe a rare clinical case of a 47-year-old female patient with NPS who underwent total knee arthroplasty for knee osteoarthritis.
遗传性骨-甲发育不良（或指甲-髌骨综合征）是一种罕见的常染色体显性疾病，其特征为多种严重症状并存，典型的临床四联征包括指甲发育异常、髌骨发育不全或缺失、髂骨角存在以及肘部畸形，不过也可能存在肾脏、眼部和神经系统受累情况。这些患者主要的骨科主诉是与疼痛和功能受限相关的髌骨不稳定。大多数关于指甲-髌骨综合征相关髌骨问题治疗的文献都针对儿童人群，目前尚无针对成年患者的治疗方案。指甲-髌骨综合征在骨骼成熟患者中有多种表现形式，其严重程度也差异很大。全科医生应熟悉指甲-髌骨综合征的临床表现谱，骨科医生应熟悉治疗方案，以便为每位患者提供最恰当的治疗。虽然指甲-髌骨综合征无法治愈，但有几种治疗方法对缓解膝关节症状有效。我们描述了一例罕见的临床病例，一名47岁患有指甲-髌骨综合征的女性患者因膝关节骨关节炎接受了全膝关节置换术。
