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Last updated: 12/11/2024
Years published: 1986, 1988, 1989, 1996, 2004, 2019, 2024
NORD gratefully acknowledges Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders, Franรงois Lagacรฉ, MD, CM, McGill University School of Medicine, and Heidi Jacobe, MD, MSCS, Associate Professor, Department of Dermatology, UT Southwestern Medical Center, for assistance in the preparation of this report.
Summary
Lichen sclerosus (LS) is a chronic inflammatory skin disorder that most commonly affects females before puberty or after menopause. Although rare, it can also be seen in males. When found in males, the disease is known as balanitis xerotica obliterans.
Lichen sclerosus is characterized by skin changes of the external genitalia. The most common distribution is a figure of 8 involving the vulva and perianal area. The head of the penis and other parts of the body may also be affected. In fact, this skin condition can affect any skin surface. Some patients with lichen sclerosus do not have any symptoms, whereas others experience intense itching, discomfort and/or erosions/ulcers. Lichen sclerosus typically has a remitting relapsing course that is complicated by permanent scarring of the affected areas. This produces functional problems such as difficulty in urination, defecation and intercourse for affected females and difficulty in urination or with erections in males. The disorder is not contagious nor is it a sexually transmitted disease.
Current research supports that it is caused by a combination of a dysfunction of the immunological system and genetic factors. The understanding of the causes of this disorder is still incomplete. The mainstay of treatment is potent topical steroids in the case of genital involvement in females. Studies have shown that regular use of potent topical steroids in females prevents the problems of scarring and decreases risk of skin cancer developing in the area of lichen sclerosus. Potent topical steroids are also a first line treatment for other areas affected by lichen sclerosus. Pelvic floor therapy, surgical intervention to address scarring (such as circumcision in males), and in some cases oral immunosuppressive medicines may also be used. Because lichen sclerosus is associated with increased risk of squamous cell carcinoma in females with genital involvement, it is important for those affected to have lifelong screening examinations as well as continued treatment to keep the disorder under control.
Introduction
Lichen sclerosus does not currently fulfill the main criterion for being defined as a rare disease, but extragenital LS, a variant of the disease, is considered rare.
Lichen sclerosus usually affects the external genitalia (vulva or penis) and/or the area around the anus (perianal region). Sometimes, it is accompanied by intense (intractable) itching, burning and pain. If the disease is severe, even minor abrasions or chaffing can cause bleeding, tearing and blistering. The scarring that results from untreated lichen sclerosus produces problems with urination, defecation and intercourse. The presence of thin, easily irritated, and torn skin affects physical activity and clothing choice.
For children with lichen sclerosus affecting the perianal region, constipation may be among the first signs of the presence of the disease. Lichen sclerosus is much more likely to affect males that have not been circumcised than males that have been.
Rarely, lichen sclerosus can also affect other areas of the skin such as the breast, wrists, shoulder, neck, back, thigh and the mouth.
Skin tissue often becomes thin, shiny, wrinkled and parchment-like. Fissures, cracks and purplish patches (ecchymoses) appear frequently. The earliest areas of lichen sclerosus exhibit a porcelain white appearing center surrounded by redness. This grows together to form larger areas of lichen sclerosus. The areas that are prone to rubbing and friction can develop blisters or bruising. The long-term result of lichen sclerosus are areas of shiny, thin skin that has a tendency to be dry, crack, or bleed. This also produces loss of the normal parts of the external genitals, narrowing of the opening of the urerthra/vagina/anus, and phimosis (inability to retract the foreskin) in males. The presence of non-healing ulcers or raised ulcerated areas in the external genitalia of females raises suspicion for the development of squamous cell carcinoma.
In males, lichen sclerosus most commonly affects the foreskin of the penis, although it may affect other areas of the body. The opening at the end of the foreskin may become narrow and scarred. Discoloration and skin changes may also occur. Symptoms also include itching, soreness and painful erections. In males, involvement in the perineal area is rare.
In some rare cases, skin lesions may also develop in the mouth. The lesions consist of bluish-white flat irregular patchy areas on the inside of the cheeks and/or palate. The tongue, lips and gums may also be involved.
Autoimmune diseases are associated with lichen sclerosus in more than a quarter of the patients.
The exact cause of lichen sclerosus is not known. Most research indicates it is an autoimmune condition. Autoimmune disorders arise when the bodyโs natural defenses against โforeignโ or invading organisms (e.g., antibodies) begin to attack healthy tissue for unknown reasons. Some cases of lichen sclerosus may be linked to formation of certain antibodies (e.g. a thyroid protein (thyroglobulin) or certain cells that line the walls of organs).
Some scientists think that a genetic predisposition to lichen sclerosus exists. A genetic predisposition means that a person may carry a gene for a disease but it may not be expressed unless something in the environment triggers the disease. Other researchers think that hormonal, irritant and/or infectious factors (or a combination of these) cause this skin condition. Cases where lichen sclerosus appears on skin after it has been damaged (from an injury or trauma) have been reported.
Recent research suggests that the most probable cause of lichen sclerosus is an autoimmune reaction in genetically predisposed individuals.
Females are six times as likely to be affected as are males. The true prevalence of lichen sclerosus is likely underreported because in many people there are no symptoms and because of the difficulty of early recognition. Incidence ranges from 0.1% to 0.3% for males and females and typically affects middle-aged adults, which means it is not a rare disease. The Orphan Drug Act of 1983 defined rare diseases as disorders affecting fewer than 200,000 Americans, translating to a prevalence of 86 per 100,000.
However, the extragenital type of lichen sclerosus is rare. It is estimated that extragenital LS comprises only 15โ20% of lichen sclerosus patients. It usually occurs together with genital LS, but in 6% of the cases, extragenital LS is present as an isolated entity without any genital lesions. The extent of the extragenital involvement varies from a small well-defined area to widespread eruption, mostly localized to the area below the breasts, neck, shoulders, inner thighs, wrists, upper back and very rarely, the mouth.
Lichen sclerosus in children is rare. Younger females and males have also been identified in the medical literature in the United States. Female children under the age of thirteen have also been reported with the condition.
Lichen sclerosus is diagnosed by looking at the skin affected. A thorough clinical evaluation, identification of characteristic physical features and a detailed patient history is necessary. There should be focus on the functional impact of the lichen sclerosus and treatment to date, including over the counter products that might be applied. To be sure of the diagnosis, a skin biopsy may be needed. Biopsies may also be performed if squamous cell carcinoma is suspected.
Treatment
Vulvar lichen sclerosus requires prompt and consistent treatment to preserve quality of life, prevent scarring and reduce the risk of squamous cell carcinoma. Effective management involves ultrapotent corticosteroid ointments, such as clobetasol propionate 0.05%, betamethasone dipropionate, diflorasone diacetate, or halobetasol propionate. These ointments, not creams, are the standard of care due to their ability to alleviate itching within days or weeks and restore skin strength and texture over months. However, they cannot reverse existing scarring or pigmentation changes.
The recommended regimen begins with daily application: twice a day initially, transitioning to alternate days and tapering to maintenance use once or twice weekly as the condition stabilizes. Patients should receive detailed guidance from healthcare providers on application techniques and progress should be documented with photos for monitoring. Lifelong follow-up is essential to manage the disease and monitor for potential progression to carcinoma.
For male genital lichen sclerosus, circumcision is often curative if the foreskin is involved. If circumcision is not indicated or effective, ultrapotent steroid ointments are the mainstay of treatment. Extragenital lichen sclerosus follows a similar protocol of potent topical corticosteroids, with additional options such as phototherapy or systemic immunosuppressive medications for severe cases. Unlike in females, the link between lichen sclerosus and squamous cell carcinoma is less established in males or extragenital cases, but ongoing monitoring is recommended to maintain disease control.
In treatment-resistant cases, intralesional corticosteroids (per example, triamcinolone injections) may be used. Second-line therapies include topical calcineurin inhibitors such as tacrolimus or pimecrolimus, which are effective but not superior to corticosteroids.
For severe or unresponsive disease, systemic therapies like methotrexate or retinoids may be considered, though these come with many side effects and require specialist supervision.
Surgical interventions are generally reserved for the scarring. For males, options include urethroplasty for narrowing of the urethra (the tube where the urine comes out) that may have occurred or circumcision if not already done. Females with severe problems may benefit from vulvectomy or perineotomy, though the problems may recur, and recovery is hard. A vulvectomy is a surgery to remove the whole vulva. An episiotomy is a cut (incision) through the area between the vaginal opening and the anus.
Other management options that do not involve medication, such as avoiding irritants, using emollients, and maintaining hygiene, are supportive strategies that enhance treatment outcomes. Affected people should be educated on these practices, as well as the importance of regular self-exams and prompt reporting of changes to a healthcare provider familiar with lichen sclerosus.
Emerging therapies, such as laser treatments or platelet-rich plasma injections, therapy that can help heal injuries by increasing the concentration of platelets in a patientโs blood, show promise and are being evaluated in clinical trials, but further research is needed to establish their efficacy and safety. In the meantime, ultrapotent corticoids remain the main treatment options.
Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Toll-free: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
https://www.centerwatch.com/
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
TEXTBOOK
Goldman BD. Lichen Sclerosis. In: NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:126.
INTERNET
Chamli A, Souissi A. Lichen Sclerosus. [Updated 2023 Jul 31]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538246/ Accessed Dec 9, 2024.
Cooper SM and Arnold SJ. Patient Education: Lichen Sclerosus (Beyond the Basics). UpToDate. Review Date: May 08, 2024. https://www.uptodate.com/contents/lichen-sclerosus-beyond-the-basics Accessed Dec 9, 2024.
Jacobe H. Extragenital Lichen Sclerosus. UpToDate. Review Date: Jul 11, 2023. https://www.uptodate.com/contents/extragenital-lichen-sclerosus?search=extragenital-lichen-sclerosu&source=search_result&selectedTitle=1~6&usage_type=default&display_rank=1 Accessed Dec 9, 2024.
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