Both juvenile LS and juvenile SSc are commonly associated with severe morbidities, with 27% of juvenile LS and up to 74% of juvenile SSc patients found to have functional limitations in a North American cohort [2, 6]. In addition, juvenile SSc patients are at risk for developing life-threatening internal organ involvement. In this study, we identified diagnostic and treatment delays of more than one year for approximately three out of ten juvenile scleroderma patients. In contrast, in this same cohort, diagnostic and treatment delays of more than one year were identified for 14.6% of juvenile dermatomyositis and 9% of childhood systemic lupus erythematosus patients [15, 16]. Within our cohort, the diagnostic and treatment delays, as well as barriers identified as major problems, were more frequent within the LS than the SSc group. However, our study was not powered to identify significant differences between the groups.

Within this study, the barriers to juvenile scleroderma care can be divided into interconnected factors of access, medical knowledge, and family resources. Access includes wait times, distance, and referrals. Medical knowledge includes the awareness of juvenile scleroderma among healthcare providers, availability of information resources, and identification of effective medications with minimization of side effects. Family resources include healthcare disparity topics such as language, judgement on appearance/accent, transportation, education attainment, insurance coverage, ability to afford medical costs, and the balance of childcare and healthcare. Some of these barriers will need tailored interventions specific to juvenile scleroderma, whereas others can more broadly apply to pediatric rheumatology, chronic conditions, and rare diseases.

Pediatric rheumatology access is influenced by multiple factors such as pediatric rheumatology workforce supply, demand, and geographic distribution. In 2015, the pediatric rheumatology workforce was estimated to be 300 full-time equivalent providers in the US, or about three providers per million children [22]. By 2030, the projected provider demand will be approximately twice the supply [22]. Furthermore, the pediatric rheumatology workforce is often concentrated in large metropolitan academic centers, and there is an imbalance of geographical distribution throughout the US. There are currently 14 US states lacking a practicing pediatric rheumatologist [22].

In our cohort, there was a broad distribution of patients within the US. The families who travelled the furthest were more often in the Southern and Midwest states. Many caregivers identified long distances (52%) and wait times (64%) as problems. Families with lower socioeconomic status (SES) had statistically significant associations with travel time over two hours, long distances to appointments, and lacking transportation. Long distances to a pediatric rheumatologist can increase diagnostic delays and alter pediatrician referral patterns for rheumatic diseases [12, 15, 16, 20]. Pediatricians may manage the patient independently or refer to other specialists [22]. Ongoing research and interventions working to address pediatric rheumatology workforce issues include boosting physician and nonphysician recruitment, increasing workforce diversity, extending telemedicine use, and creating incentive programs to redistribute providers to underserved areas [12, 19, 22].

Given that the barrier most classified as a major problem was the lack of knowledge about juvenile LS and SSc in the medical community, there is a need for increased awareness of these rare diseases. Juvenile scleroderma patients were often seen by multiple providers prior to diagnosis, but the pattern of providers differed between LS and SSc. Juvenile LS patients were often diagnosed by dermatologists, with nearly half being diagnosed by adult dermatologists. Unlike LS, SSc patients were often seen by primary care providers and dentists before the diagnosis was established by a pediatric rheumatologist. A prior United Kingdom study also noted similar juvenile LS and SSc referral patterns and diagnostic delay [17].

The majority of dermatologists in North America, both pediatric and adult, use topical rather than systemic immunosuppressive medicines to treat juvenile LS (morphea), as shown in two surveys of dermatologists [23, 24]. This is very different from the treatment pattern of pediatric rheumatologists, where a survey in North America found 95% use systemic immunosuppressants to treat juvenile LS survey [25]. Recommendations from two major pediatric rheumatology groups favor methotrexate treatment [26, 27]. Some of the difference in treatment patterns between dermatologists and rheumatologists likely reflects differences in disease pattern between adult-onset and juvenile onset LS. In adults, the most common LS subtype is superficial circumscribed morphea, which is usually primarily a relatively short-lived cosmetic concern that is readily controlled by topical treatment. In contrast, linear scleroderma (head and trunk/limb involvement) is the most common pediatric subtype, and this subtype is typically associated with deep tissue involvement resulting in serious morbidities such as arthropathy, muscle atrophy, limb length difference, facial hemiatrophy, seizures, uveitis, and dental defects [5, 27]. In general, pediatric onset LS is associated with a high frequency of extracutaneous involvement, long disease duration (mean 13–14 years), high relapse rate, and high potential to impair permanent growth unlike adult-onset LS [5, 28]. Therefore, the management of most juvenile LS patients differs significantly from that for most adult-onset LS patients. For juvenile LS, early initiation of systemic immunosuppressive treatment in patients with deep tissue or rapidly progressive active disease, continual screening for extracutaneous involvement, and long-term monitoring for persistence or reoccurrence of disease activity is essential [5, 28, 29]. The lack of awareness of these differences in disease patterns, treatment needs, and outcomes between pediatric versus adult onset disease, can lead to inappropriate under treatment and a missed opportunity to limit the severity of extracutaneous morbidity, resulting in higher disease burden and poorer outcome in juvenile LS patients.

The LS families were more likely to encounter a lack of awareness of the potential severity and morbidities associated with LS. They were often erroneously told that there was no need to treat their child, the condition was harmless, and medications were more dangerous than the disease. These myths reflect the understanding of LS treatment prior to studies establishing the effectiveness of methotrexate [5]. A 1977 juvenile LS review stated the most important aspect of treatment was vigorous occupational and physical therapy, and the lack of effective medical therapies was reiterated in a 1996 review that stated, “Linear scleroderma does not respond well to any treatment, although many therapies have been tried. … No treatment has been shown to work consistently in the disease” [30, 31]. Another paper in 2000 stated that the, “treatment of scleroderma, medically, has been largely unsuccessful. …treatment with a number of drugs including anti-inflammatory and immunosuppressive agents has not proven consistently effective” [32]. Methotrexate began to be used in LS following a 1996 double blinded, placebo controlled, randomized clinical trial (DB PC RCT) showing its effectiveness for skin thickening in systemic sclerosis [33]. A DB PC RCT in juvenile LS demonstrated the effectiveness of methotrexate for controlling active disease in 2011 [34], and a 2019 Cochrane review favors treating active disease in juvenile LS with methotrexate plus prednisone [35].

Strategies to increase medical provider awareness of juvenile scleroderma need to involve primary care, dermatology, orthopedic, plastic surgery, and dental providers. Role-play simulation and patient educators have previously improved recognition of SSc [36]. By focusing on teaching “red flags,” workshops could be applied to both forms of juvenile scleroderma as well as other pediatric rheumatology conditions. Moreover, provider and family knowledge can be enhanced through partnerships with physician and disease foundations for information resources.

Both physicians and caregivers acknowledge the challenges of identification of effective treatment and medication side effects for juvenile scleroderma. Caregivers in this study reported identifying effective medications (nearly 60%) and side effects (80%) as problems. For most juvenile LS subtypes, methotrexate remains the first-line therapy [27,28,29]. Adjunctive corticosteroid recommendations vary [26, 27]; two of the CARRA-generated consensus treatment plan (CTP) regimens include corticosteroids, either intravenous or oral administration [26]. One variant of the CTP with intravenous corticosteroids, recommends this be given weekly for 12 weeks, a regimen that could create challenges for balancing healthcare and work/school needs [26]. Unfortunately, approximately one-third of patients fail methotrexate therapy, which likely contributes to the higher percent of medication side effects noted in the LS group [34, 37]. Within the CARRA pilot comparative CTP study, all the patients who experienced methotrexate failure had extracutaneous manifestations, and extracutaneous involvement was identified to be associated with longer persistence of disease activity and use of more treatment and longer treatment durations in another prospective study [37, 38]. Other treatments include mycophenolate mofetil, tocilizumab, abatacept, infliximab, and JAK inhibitors for refractory juvenile LS [28, 29]. For juvenile SSc, the Single Hub and Access point for pediatric Rheumatology in Europe (SHARE) recently published the first consensus-based recommendations in 2020 [39]. In general, juvenile SSc treatment is guided by organ involvement and is mostly adapted from adult studies because of the paucity of jSSc treatment studies. For example, early recognition of “silent” interstitial lung disease (ILD) by high-resolution computed tomography of the lungs allows for treatment to prevent or impede the progression of permanent organ damage [40]. Early diagnosis is essential since ILD is the leading cause of morbidity and death for children and adults with SSc [40]. Ongoing research is being done to assess potential reliable clinical, biomarker, imaging, or laboratory features to identify patients at risk for a refractory course and optimize therapy outcomes.

Although guidelines and CTPs can help to standardize care, the understanding of healthcare disparities is essential to improve the equity of juvenile scleroderma care. Like many survey studies, there may be selection bias since only families who attended the virtual family scleroderma educational conference or were a part of the online support group were surveyed. Overall, most of the respondents were of relatively high socioeconomic status and had private insurance. Given their participation in support groups and educational conferences, these families likely have more resources and time to devote to understanding scleroderma compared to many other families with a child with juvenile scleroderma. Nonetheless, these caregivers still identified many difficulties navigating care for their children, and a substantial impact of the disease upon their child’s and family’s life. We were able to identify greater barriers in US families on public insurance, with household incomes < $100,000, and of Hispanic ethnicity. It seems likely that this survey underestimates disease-related problems among the families of all patients with juvenile scleroderma. Due to the exploratory nature of the study, it was also not powered to detect differences between the different subgroups, and type II errors may exist. In addition, there were only eight families from a variety of countries other than North America, certainly insufficient to discern differences in disparities within the international scleroderma community. Future studies may improve generalizability and increase sample size by offering questions in different languages, and by conducting surveys in a wide variety of clinics as well as during telemedicine appointments.

Additional studies could assess correlation of accumulated social disadvantage (low guardian education, low household income level, underinsured status, and high adverse childhood experience score) with juvenile LS and SSc severity [13].