To provide an update on the current management, including evaluation and treatment, and the available diagnostic tools for linear scleroderma of the head, i.e., Parry-Romberg Syndrome and en coup de sabre (PRS/ECDS). A rapid scoping review of the literature was conducted to include manuscripts published in English between 2010 and 2019. Literature searches were performed in PubMed and EMBASE databases. The were analyzed for descriptive statistic reporting. This study reviewed 215 manuscripts reporting these 1430 patients. Surgical reports comprised the majority of the reviewed literature. Most PRS/ECDS did not appear to receive comprehensive multisubspecialty evaluation for extracutaneous manifestations; 21% of cases noted neurological screening, 4% noted dental screening, and 3% noted ophthalmologic screening. Methotrexate and glucocorticoids remain the most frequent choice for immunosuppressive treatment, though fewer than 7% of patients reported receiving systemic medical therapies. Surgical procedures for cosmetic or functional improvement were common (59%) among the reported patients. Autologous fat grafting was the most frequently utilized cosmetic treatment (50% of procedures) followed by free flap transfers (24% of procedures). There is ongoing need for standardized evaluation, monitoring, and treatment to prevent morbidity in PRS/ECDS, especially in children. When these patients are managed by rheumatologists, methotrexate, and steroids remain the first-line treatment, but a review of the published literature reflects that this may be a minority. Most PRS/ECDS patients are not evaluated in a multidisciplinary fashion. We propose comprehensive evaluations across subspecialties at the baseline and follow-up levels to monitor disease activity and record extracutaneous manifestations, treatment algorithms, and surgical intervention considerations. Cite this article as: Glaser DH, Schutt C, VonVille HM, Schollaert-Fitch K, Torok K. Linear Scleroderma of the Head - Updates in management of Parry Romberg Syndrome and En coup de sabre: A rapid scoping review across subspecialties. Eur J Rheumatol 2020; 7(Suppl 1): S48-S57.

Cytotoxic T lymphocyte antigen 4 (CTLA-4) is a key immune checkpoint receptor that regulates T cell activation through ligand competition and transendocytosis. Heterozygous loss-of-function variants in CTLA4 result in CTLA-4 haploinsufficiency with autoimmune infiltration (CHAI), characterized by immune dysregulation and autoimmunity. We report a multigenerational family carrying a novel heterozygous CTLA4 variant, c.654T>A (p.Tyr218*), which truncates the cytoplasmic tail. Affected individuals presented with recurrent infections and autoimmune manifestations. Patient T cells showed reduced CTLA-4 expression at baseline and after stimulation, suggesting impaired stability. Jurkat cells expressing CTLA-4 Y218* exhibited enhanced degradation, partially rescued by lysosomal inhibition, and reduced transendocytosis of CD80. Together, these findings suggest that the CTLA-4 p.Tyr218* variant compromises protein stability and ligand uptake, contributing to CTLA-4 haploinsufficiency and immune dysregulation. This work broadens the spectrum of CTLA4 variants and underscores the importance of the C-terminal cytoplasmic domain in CTLA-4 function and immune regulation.

Background: Physician burnout threatens clinician well-being, job satisfaction, retention, and access to care. Pediatric rheumatology faces documented workforce shortages, yet little specialty-specific information exists regarding physician well-being, burnout symptoms, and workplace characteristics. Methods: We conducted a cross-sectional descriptive survey of CARRA-registered pediatric rheumatologists in North America between January and March 2024. Participants completed the Mayo Clinic Well-Being Index (WBI), followed by the AMA Organizational Biopsy^® survey incorporating the Mini-Z 2.0 and demographic/workplace questions. Descriptive statistics summarized physician well-being, burnout symptoms, and workplace characteristics. Differences in WBI scores across response categories for two WBI anchor items assessing work–life integration and work meaningfulness were evaluated using ANOVA. AMA workplace data were available only in aggregate form and could not be linked to individual WBI responses. Results: Of 330 invited pediatric rheumatologists, 164 (49.7%) completed the WBI survey and 145 (88.4%) completed the redirected AMA survey. The mean WBI score was 2.7 (SD 1.9), and 36.0% scored ≥4. On the Mini-Z single-item measure, 48.3% of respondents endorsed at least one category consistent with burnout symptoms; by comparison, 64.0% endorsed the WBI item asking whether they had felt burned out from work during the past month. Frequently reported workplace challenges included documentation burden (56.6%), EHR-related frustration (59.3%), and after-hours EHR work (55.2%). Work–life integration was significantly associated with WBI scores (ANOVA p < 0.001), whereas meaningfulness of work was not (p = 0.26). Conclusions: Indicators of burnout symptoms and occupational distress were common among the responding pediatric rheumatologists. Frequently reported workplace challenges and the observed association between work–life integration and WBI scores identify potential areas for future organizational well-being initiatives.