Parry Romberg disease with En Coup de Sabre Scleroderma: Effect of tocilizumab on periodontal bone inflammation

Meneghetti, Thaís Cugler; Silva, Juliana Yassue Barbosa da; Kluppel, Lúcio Eduardo; Carvalho, Vânia Oliveira

doi:10.1177/2397198320975872

Cited by 4 publications

(3 citation statements)

References 19 publications

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“…Differential diagnoses include hemifacial microsomia, Bell's palsy, lipodystrophies, and a form of linear scleroderma on the scalp and forehead termed "en coup de sabre" (ECDS) [1,5]. Similar clinical and histopathological findings suggest that PRS and ECDS, although representing different clinical entities, lie on the same disease spectrum, and the overlap is described in 28-42% of cases [9]. Clinically, ECDS can present with band-like changes of sclerosis and hyperpigmentation with induration, and PRS with unilateral atrophy without induration or inflammation [8].…”

Section: Discussionmentioning

confidence: 99%

Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting

Pereira,

Rodrigues,

Nunes

et al. 2023

Cureus

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Parry Romberg syndrome (PRS) is an acquired neurocutaneous syndrome with uncertain pathophysiology, and its incidence is unknown. Usually, the disease becomes apparent during the first decade of life or early during the second decade, but it can also occur in adulthood, and it is more common in females. The main feature is slowly progressive hemiatrophy (thinning or shrinkage) of the facial tissues, typically fat, skin, connective tissues, muscle, and sometimes bone. In some people, atrophy may also affect the trunk and the limbs. Additional symptoms can potentially develop in some patients, including ophthalmological, psychiatric, and neurological complications. The clinical presentation serves as a guide for the diagnosis. Treatment can demand a multidisciplinary approach (maxillofacial surgeons, plastic surgeons, ophthalmologists, neurologists, dermatologists, psychiatrists, anesthetists, and family doctors). Patients can undergo restorative plastic surgery to improve their appearance, with highly variable success rates. We present a case report of a 52-year-old man who made an appointment at the family care unit (FCU) because of a left facial hemiatrophy that started progressing two to three months before, and he was afraid it might be cancer. At the physical exam, it was possible to examine a slight hemiatrophy in two different parts of the left side of the patient's face (the nasolabial-masseter region and the temporal-malar region). The facial CT scan showed a low degree of maxillary bone resorption.Through discussion with peers on the Family Doctor team, the diagnosis of a rare condition in the primary care setting was made possible.This case shows the importance of being aware of a rare disease despite working as a family physician and aims to make more people familiar with this syndrome. It also raises awareness about the need for discussion of clinical cases as a team.

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Section: Discussionmentioning

confidence: 99%

Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting

Pereira,

Rodrigues,

Nunes

et al. 2023

Cureus

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“…Several case series have reported on the use of biologics for refractory jLS, most commonly abatacept and tocilizumab [10,26 ▪ ,27,39–41,42 ▪ ,43–48]. Recent SSc trials suggest benefit for both these treatments, with abatacept found beneficial in patients who had the inflammatory skin gene expression that is shared with localized scleroderma [49], and tocilizumab treatment associated with a trend towards improved skin scores and lung function stabilization [50].…”

Section: Biologic Treatmentsmentioning

confidence: 99%

“…Two tocilizumab case reports described a reduction or cessation of seizures, with one of these patients also having resolution of uveitis, and the other improvement in her cognitive function and altered personality; both of these patients also had improvement in their brain MRI scans [26 & ,27]. Another patient with craniofacial localized scleroderma associated with growth defects of mandible and nose, periodontal bone edema, dental root resorption with tooth loss, and oral pain and dysphagia, had resolution of the periodontal bone edema on MRI, oral pain, and dysphagia after 6 months of tocilizumab treatment [47].…”

Section: Biologic Treatmentsmentioning

confidence: 99%

Treatment of juvenile localized scleroderma: current recommendations, response factors, and potential alternative treatments

2022

Current Opinion in Rheumatology

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Purpose of reviewJuvenile localized scleroderma (jLS) is a chronic autoimmune and fibrosing disease associated with a high risk for functional impairment. Antifibrotic options are limited, so current treatment strategies are focused on disease activity control. Pediatric rheumatologists are in consensus on the need to treat with systemic immunosuppressants, in particular, methotrexate. However, more than 30% of patients fail initial methotrexate treatment. This review provides an update on current management and reviews reports on potential alternative treatments. Recent findingsAn overview of current treatment recommendations and its efficacy are discussed. Recent studies have identified several factors associated with likelihood of treatment response. These include time to initiation of treatment, certain subtypes, and extracutaneous involvement. Findings from recent reports of alternative systemic immunomodulators, including biologic medications, will be summarized. SummaryMethotrexate treatment has greatly improved outcome for most jLS patients but a substantial portion have refractory cutaneous and/or extracutaneous disease. Treatment response factors are being identified, which could lead to improved management strategies. Recent studies provide further support on mycophenolate mofetil as an alternative treatment. Data on biologic therapies is encouraging, with data suggesting efficacy for many extracutaneous manifestations but more studies are needed to evaluate these and other options for jLS. Keywords biologics, localized scleroderma, morphea, refractory disease, treatment ]. Musculoskeletal morbidities include arthritis, tenosynovitis, contractures, myositis, and bone growth impairment. Patients with craniofacial disease are at higher risk for ocular, oral, and neurological problems including uveitis, dental problems, seizures, and movement disorders [4 ]. Treatment for jLS depends upon the disease pattern, with disease activity status and risk for poor outcome the main considerations (Table 1). Most

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Morphoea and Allied Scarring and Sclerosing Inflammatory Dermatoses

Orteu

2024

Rook's Textbook of Dermatology

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Parry Romberg disease with En Coup de Sabre Scleroderma: Effect of tocilizumab on periodontal bone inflammation

Cited by 4 publications

References 19 publications

Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting

Parry Romberg Syndrome: When the Diagnosis of a Rare Disease Is Made in the Primary Care Setting

Treatment of juvenile localized scleroderma: current recommendations, response factors, and potential alternative treatments

Morphoea and Allied Scarring and Sclerosing Inflammatory Dermatoses

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