Clinical practice gaps in patients with extragenital lichen sclerosus: A retrospective review

To the Editor: Lichen sclerosus (LS) is a chronic inflammatory skin disorder characterized by progressive epidermal atrophy and hypopigmentation, usually of the anogenital area. Patients may also present with extragenital lesions, though only 6% of LS cases are isolated on extragenital skin.1Wallace H.J. Lichen sclerosus et atrophicus.Trans St Johns Hosp Dermatol Soc. 1971; 57: 9-30PubMed Google Scholar For patients first presenting with extragenital lichen sclerosus (EGLS), a thorough history and examination of both the extragenital and genital skin can prevent diagnostic delays and improve patient outcomes by identifying concomitant genital lesions.2Chamli A. Souissi A. Lichen sclerosus.in: StatPearls. StatPearls Publishing, 2021Google Scholar In this study, we conducted a retrospective analysis to investigate whether dermatologists performed a detailed history and physical examination to determine genital involvement in patients initially presenting with EGLS. We utilized the Research Patient Data Registry, which is associated with Mass General Brigham hospitals and is a secure patient data repository of billed data. We queried Research Patient Data Registry using the search term, “lichen sclerosus” between January 1, 1989, and August 1, 2021. A retrospective chart review was performed to identify patients with EGLS seen at Brigham and Women's Hospital, excluding patients with a known history of genital LS at the time of EGLS diagnosis. We collected demographics, dermatologic history, and clinical features including symptoms and lesion appearance. This study was approved by Mass General Brigham Institutional Review Board. A total of 55 patients met criteria for this study. Patients were predominantly female (n = 52; 94.6%) and White (n = 50; 90.9%), with a mean age at EGLS diagnosis of 58.4 (Table I). Overall, 58.2% (n = 32) of EGLS diagnoses were based on histopathology and 41.8% (n = 23) were clinical. For these patients, providers often failed to document questions about their genital involvement in their history (n = 21; 38.2%) (Table II). Of the patients asked about genital involvement, 50% (n = 17) of them endorsed genital symptoms. Similarly, only 47.3% (n = 26) received a genital exam; of those, 69.3% (n = 18) had findings consistent with genital LS. Importantly, for patients diagnosed with genital LS on genital exam, only 57.1% (n = 12) endorsed genital symptoms. At their most recent visits, the results remained consistent; only 36.5% (n = 19) of patients received genital exams. Across all visits, only 56.4% (n = 31) of patients who presented with EGLS have documented genital exams in their medical records, and 67.7% (n = 21) of these patients went on to be diagnosed with genital LS. Among these 21 patients, 61.9% (n = 13) were clinically diagnosed and 38.1% (n = 8) were diagnosed based on histopathological findings.Table IDemographics of patients with extragenital lichen sclerosus(N = 55) n (%)Mean age at diagnosis, y58.4 ± 15.9 (range: 21-87)Race/ethnicity White (Non-Hispanic/Latino)50 (90.9) Hispanic/Latino3 (5.5) African-American/Black1 (1.8) Other1 (1.8)Gender Female52 (94.6) Male3 (5.5) Open table in a new tab Table IIEvaluation of genital involvement in patients with an initial diagnosis of extragenital lichen sclerosusAll patients with EGLS (N = 55); n (%)Questions about genital involvement asked on initial presentation? Yes34 (61.8) No21 (38.2)If yes, genital symptoms noted by patients Dyspareunia2 (5.9) Vulvar pain2 (5.9) Vulvar pruritus15 (44.1) Irritation10 (29.4) Blood in stools1 (2.9) No symptoms17 (50.0)Initial presentation (N = 55)n (%)Most recent visit (N = 52)∗3 patients lost to follow-up after initial presentation, leading to a total N = 52 at patients' most recent visits.n (%)Was a genital exam performed? Yes26 (47.3)19 (36.5) No29 (52.7)33 (63.5)For those who did not have a genital exam performed, why not? Not documented26 (47.3)26 (50.0) Declined by patient3 (0.05)7 (13.5)Patients with EGLS who received genital examsInitial presentation (N = 26)n (%)Most recent visit (N = 19)n (%)Genital exam findings Normal8 (30.1)7 (36.8) Atrophy12 (46.1)8 (42.1) Erosions1 (3.8)2 (10.5) Erythema7 (26.9)3 (15.8) Architecture change3 (11.5)3 (15.8) Color change6 (23.1)3 (15.8)Of those patients who have ever received genital exams since initial presentation with EGLS, were they eventually diagnosed with genital LS? Yes21 (67.7) No10 (32.3)EGLS, Extragenital lichen sclerosus; LS, lichen sclerosus.∗ 3 patients lost to follow-up after initial presentation, leading to a total N = 52 at patients' most recent visits. Open table in a new tab EGLS, Extragenital lichen sclerosus; LS, lichen sclerosus. This study highlights a critical practice gap for patients with EGLS. Our results suggest that providers often do not inquire about genital involvement or perform genital exams for patients initially presenting with EGLS. Given the high rate of concomitant genital LS in patients with EGLS,1Wallace H.J. Lichen sclerosus et atrophicus.Trans St Johns Hosp Dermatol Soc. 1971; 57: 9-30PubMed Google Scholar,3Goldstein A.T. Marinoff S.C. Christopher K. Srodon M. Prevalence of vulvar lichen sclerosus in a general gynecology practice.J Reprod Med. 2005; 50: 477-480PubMed Google Scholar it is imperative that providers inquire about genital symptoms and perform a full skin check, including the anogenital area. This will optimize patient outcomes and reduce the life-altering complications of genital LS including introital stenosis, labial fusion, and an increased risk for squamous cell carcinoma.4Lee A. Bradford J. Fischer G. Long-term management of adult vulvar lichen sclerosus: a prospective cohort study of 507 women.JAMA Dermatol. 2015; 151: 1061-1067https://doi.org/10.1001/jamadermatol.2015.0643Crossref PubMed Scopus (213) Google Scholar,5Lewis F.M. Tatnall F.M. Velangi S.S. et al.British Association of Dermatologists guidelines for the management of lichen sclerosus, 2018.Br J Dermatol. 2018; 178: 839-853https://doi.org/10.1111/bjd.16241Crossref PubMed Scopus (151) Google Scholar This study is limited by its retrospective nature and data from a single center. We hope that this study informs clinical practice and promotes comprehensive care for patients diagnosed with EGLS. Dr LaChance is a Principal Investigator for a research grant from Pfizer looking to explore the role of the JAK/STAT pathway in connective tissue disease. The other authors have no conflicts of interest to declare.