A novel mutation in <i>LMX1B</i> gene in a newborn with nail‐patella syndrome: Clinical and dermoscopic findings

Tognetti, Linda; Baldassarri, Margherita; Fava, Francesca; Provvidenziale, Luca; Cinotti, Élisa; Renieri, Alessandra; Rubegni, Pietro

doi:10.1111/pde.14337

Cited by 2 publications

(2 citation statements)

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“…NPS is also known as Fong disease as well as hereditary osteo-onychodysplasia, or hereditary onchyo-osteo-dysplasia (HOOD) syndrome [ 2 ]. The condition stems from mutations in the LMX1B gene on chromosome 9 [ 3 , 4 ]. There have been more than 140 described mutations including missense, frame shifting, deletion, and splicing [ 5 ].…”

Section: Introductionmentioning

confidence: 99%

“Knee-Ding” a Diagnosis: A Case of Nail Patella Syndrome

Dzhugarian,

Hamamah,

Frugoli

et al. 2023

Cureus

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Nail Patella Syndrome (NPS) is a rare genetic disorder with pathognomonic signs including dystrophic fingernails, iliac horns, and limb abnormalities, which commonly include hypoplastic development of the patellae, causing patients to experience patellar instability. This resulting patellar instability increases susceptibility to recurrent subluxations or dislocations in NPS patients. Since these anatomical abnormalities are present at birth or in childhood, early recognition may prevent the need for surgical intervention if appropriate preventive measures are taken. This case report describes a 54-year-old woman with a history of NPS, diagnosed later in adulthood, with a prior patellectomy at age 18 secondary to an unspecified left knee injury that occurred at age 4. A combination of radiographic and clinical findings are presented, which support the diagnosis of NPS, including dystrophic nails, left knee x-ray consistent with prior patellectomy, and right knee x-ray showing inferolateral subluxation of a hypoplastic patella. Additional signs associated with NPS are also discussed, including mood disorders, Raynaud’s, and a high hairline which may assist in early diagnosis. This case report emphasizes earlier identification of NPS by clinicians through recognition of signs and symptoms while also considering proactive measures to lessen recurrent subluxations or dislocations to preserve patellar integrity and reduce the need for surgical intervention.

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Section: Introductionmentioning

confidence: 99%

“Knee-Ding” a Diagnosis: A Case of Nail Patella Syndrome

Dzhugarian,

Hamamah,

Frugoli

et al. 2023

Cureus

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“…Most of the literature regarding the treatment of NPS-related patellar problems, concerns pediatric population, 5 and there is no defined treatment algorithm for adult patients. 6 …”

Section: Introductionmentioning

confidence: 99%

Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome – A Case Report

Serrano¹,

Serrano²

2021

IMCRJ

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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.

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A novel mutation in LMX1B gene in a newborn with nail‐patella syndrome: Clinical and dermoscopic findings

Cited by 2 publications

References 6 publications

“Knee-Ding” a Diagnosis: A Case of Nail Patella Syndrome

“Knee-Ding” a Diagnosis: A Case of Nail Patella Syndrome

Total Knee Arthroplasty for Osteoarthritis in a Patient with Nail Patella Syndrome – A Case Report

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