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Vulvar lichen sclerosus: Clinical manifestations and diagnosis

Vulvar lichen sclerosus: Clinical manifestations and diagnosis
Literature review current through: Jan 2024.
This topic last updated: Jul 11, 2023.

INTRODUCTION — Lichen sclerosus (LS) is a benign, chronic, progressive, dermatologic condition characterized by marked inflammation, epithelial thinning, and distinctive dermal changes that may be accompanied by symptoms of pruritus or pain (picture 1A-C). LS usually occurs in the anogenital region but can develop on any skin surface. Vulvar LS is the most common clinical presentation.

The clinical manifestations and diagnosis of vulvar LS will be reviewed here. The management of vulvar LS is reviewed separately. Extragenital LS and LS involving the penis are also discussed separately.

(See "Vulvar lichen sclerosus: Management".)

(See "Extragenital lichen sclerosus: Clinical features and diagnosis".)

(See "Extragenital lichen sclerosus: Management".)

(See "Balanitis in adults".)

TERMINOLOGY — The previous designation for LS was "lichen sclerosus et atrophicus." Use of the "et atrophicus" ceased because it implied the condition was only atrophic, whereas areas of thickening and hyperplasia often occur. (See 'Clinical manifestations and natural history' below.)

EPIDEMIOLOGY — Vulvar LS is one of the most common conditions treated in vulvar clinics. The true prevalence is unknown. Estimates range from 1 in 30 older adult females, to 1 in 59 females in a general gynecology practice, to 1 in 300 to 1000 patients referred to dermatologists [1-5].

Vulvar LS can occur at any age but tends to have two peaks of onset: the prepubertal period and the perimenopausal to postmenopausal period [6,7].

The incidence of vulvar LS may be rising [7,8]. A population-based study in Finland found an increase in the age-adjusted incidence of LS from 14 per 100,000 woman-years in 2003 to 22 per 100,000 woman-years in 2010 to 2012 [8].

ETIOLOGY — The etiology of LS is unknown and is likely to be multifactorial. Several mechanisms have been proposed:

Genetic factors – Familial aggregations of LS among fathers and daughters, mothers and daughters, sisters, and twins (identical and fraternal) have been reported [6,9,10]. A study that compared two unrelated families with vulvar LS using whole-exome sequencing found germline variants in four genes, including two related to neutrophil and macrophage function [11].

Immunologic abnormality – Disorders of the immune system are more common among patients with LS, suggesting that autoimmune mechanisms and immune dysregulation may be involved in the etiology of the disease [12-20]. For example:

LS has been associated with autoimmune diseases, such as alopecia areata, vitiligo, thyroid disorders, pernicious anemia, and diabetes mellitus. In addition, a few cases of concomitant LS and celiac disease have been published [21,22]:

-In a series of 350 female adults and children with histologically confirmed LS (of which 98 percent had vulvar disease), 22 percent had an autoimmune disorder, and 42 percent had one or more autoantibodies (antithyroid, antigastric parietal cell, antinuclear, antismooth muscle, or antimitochondrial antibodies) with titers greater than 1:20 [23].

-A case-control study of 190 adult females with vulvar LS and 922 female controls found an increased likelihood of autoimmune disorders among patients with vulvar LS (28 versus 9 percent) [20]. However, an increase in the prevalence of a similar panel of autoantibodies was not detected.

An analysis of antibody profiles of 86 individuals with LS and 85 healthy controls found an increased level of antibody formation against extracellular matrix protein 1 (a key component of the dermis) in 74 percent of females with LS [24]. The relevance of this finding to disease pathogenesis requires further investigation.

Microribonucleic acids (miRNAs) are small ribonucleic acid (RNA) molecules that regulate cell processes by targeting the 3' untranslated region of target messenger ribonucleic acid (mRNA) to influence gene expression. A study comparing miRNA expression in lesional skin versus adjacent normal skin samples of 33 patients with LS found differences in the expression of several miRNAs related to autoimmunity [8]. These differences could also be observed in blood samples from patients with LS compared with healthy volunteers.

Hormonal factors – The highest incidence of vulvar LS is observed during low-estrogen physiologic states, such as the premenarchal and the postmenopausal periods [23], suggesting a hormonal influence on the pathogenesis of the disease. Although there may be a negative association between progesterone-only forms of contraception and LS, systematic reviews have not found evidence to support the efficacy of topical application of progesterone nor of hormone replacement therapy [25,26]. (See "Vulvar lichen sclerosus: Management", section on 'Topical progesterone and topical testosterone'.)

Androgen levels do not appear to be related to LS. An early, poorly designed study noted that patients with vulvar LS have decreased serum levels of dihydrotestosterone, free testosterone, and androstenedione compared with age-matched controls without the disease [27]. However, many subsequent studies have not confirmed these findings, and testosterone is not an effective treatment for the disease. (See "Vulvar lichen sclerosus: Management", section on 'Topical progesterone and topical testosterone'.)

Infection – Infectious agents (eg, Borrelia burgdorferi, variably acid-fast bacteria, human papillomavirus [HPV]) have been postulated to induce LS [28-32], but no clear relationship has been demonstrated [33].

Cell kinetics – An elastase-type enzyme produced by vulvar fibroblasts may lead to the destruction of connective tissue in patients with LS [34]. Despite this destruction, there appears to be active regeneration with significant collagen synthesis [35]. In a study of keratin differentiation markers using specific monoclonal antibodies, keratins 6 and 16 were associated with increased cell turnover in LS, consistent with a hyperproliferative state [36]. This was confirmed in another study using flow cytometry analysis [37]. The clinical significance of these findings has not been established.

Vulvar skin affected by LS has a wide range of proliferative capacity [38]. Proliferation markers, as well as the tumor suppressor p53, are upregulated in genital LS, perhaps reflecting increased levels of oxidative stress [38,39].

External factors – The reason for the higher frequency of LS involving the vulvar area compared with LS in other body sites is unknown. Exposure of susceptible skin to urine has been proposed as a contributing factor to vulvar LS; however, data are insufficient to confirm a contributory effect. In a study of a vulval dermatology database that assessed data from 126 adult females with vulvar LS and 258 adult females without vulvar LS, patients with LS were more likely to have documented urinary incontinence (63 versus 34 percent) [40]. Other studies suggest a role for urine exposure in genital LS in males [41].

The Koebner phenomenon (ie, the development of isomorphic pathologic lesions in the traumatized, uninvolved skin of patients who have a cutaneous disease) can occur in patients with LS [42]. Trauma, injury, and sexual abuse may trigger symptoms.

CLINICAL MANIFESTATIONS AND NATURAL HISTORY — LS usually occurs in the anogenital region (85 to 98 percent of LS cases) but can develop on any skin surface [43,44]. A subset of patients with vulvar LS also has extragenital LS. (See 'Other sites of involvement' below.)

Symptoms — Pruritus and soreness or irritation are the most common symptoms. Vulvar LS may also be asymptomatic.

The major symptoms are:

Vulvar pruritus – Vulvar pruritus occurs in most patients and is often so intense that it interferes with sleep. Pruritus is not specific to LS, as pruritus is a feature of most vulvar disorders (table 1).

Anal discomfort – Patients with vulvar LS may also have involvement of perianal skin (picture 1B-C). Common symptoms include pruritus ani, painful defecation, anal fissures, and rectal bleeding. In children, constipation may be a presenting symptom [45].

Dyspareunia – Dyspareunia and other forms of sexual dysfunction are common in patients with LS and may significantly impact a patient's quality of life [46]. Sexual dysfunction may occur due to inflammatory disease or as a late symptom if associated with introital stenosis, fissures, or posterior deflection of fused labial tissues at the time of intromission. Fusion over the clitoris can also cause diminished sexual sensation or even anorgasmia, although this is uncommon. Marked dyspareunia may occur in perimenopausal or postmenopausal females with estrogen deficiency in addition to vulvar LS.

A questionnaire-based study that examined patients' views of their sexual problems following the diagnosis of vulvar LS found that the majority of 45 sexually active respondents described detrimental effects on sexual function, including dyspareunia, apareunia, and difficulty achieving orgasm [47]. These symptoms appeared to be due to continuing inflammation and anatomic changes and scarring from long-standing, active disease. Other studies have quantified the effect of LS on sexual function using the Female Sexual Function Index and have found a significant impact across a range of domains, including desire, arousal, lubrication, orgasm, satisfaction, and pain [48,49].

Dysuria – Dysuria and difficulty voiding can occur, especially when there is fusion of the labia minora over the urethra with advanced disease.

In asymptomatic patients, LS is detected by careful inspection of the vulva for the characteristic thin, white, wrinkled skin and changes in vulvar architecture. For example, there may be loss of portions or all of the labia minora, and the clitoris may become buried under the fused prepuce. (See 'Physical findings' below and 'Diagnosis' below.)

Physical findings — Physical findings of vulvar LS include:

Atrophy, hypopigmentation, and other lesions – Classic vulvar LS presents as white, atrophic papules and macules that may coalesce into plaques; follicular plugging may be observed in early lesions. LS can also be hemorrhagic, purpuric, hyperkeratotic, bullous, eroded, or ulcerated [50].

The lesions most frequently affect the labia minora and/or labia majora (picture 1A, 1D). However, the whitening may extend to involve the clitoris as well as over the perineum and around the anus in a keyhole fashion (picture 1B-C). Extension onto the genitocrural folds or buttocks may also occur [51].

Fissuring is frequently seen at the posterior fourchette, perianally, in the interlabial folds, or around the clitoris. The introitus may have a yellow, waxy appearance. Fordyce spots (small, raised papules along the inner aspect of the labia minora, which represent normal sebaceous glands) disappear.

Scratching may result in excoriations and secondary, mild lichenification (thickening of the epidermis with exaggeration of normal skin lines), often associated with edema of the labia minora and the prepuce (picture 2). Relatively minor rubbing or intercourse may lead to hemorrhage and/or petechiae with purpura and ecchymoses due to the fragility of the involved skin (picture 3A-B).

Loss of vulvar architecture – The vulvar architecture remains intact early in the disease (picture 4). As the disease progresses, the distinction between the labia majora and minora is lost, and the clitoris becomes buried under the fused prepuce (picture 5A-C).

Shrinkage of the introitus and perineum causes dyspareunia and more fissuring upon intercourse or insertion of a speculum. End-stage LS may progress to show a pale and featureless vulva due to midline fusion, with only a small "pinhole" posterior orifice.

Other sites of involvement — Patients with vulvar LS may have associated extragenital or vaginal involvement:

Extragenital lichen sclerosus – Extragenital LS may be present in patients with vulvar LS. Extragenital lesions present as macules, papules, or atrophic plaques [44]. Although lesions have been described as characteristically white in color, lesions in patients with highly pigmented skin may demonstrate hyperpigmentation or hypopigmentation rather than a white color (picture 6A-B) [52].

The most common sites for extragenital LS include the thighs, breasts, wrists, shoulders, neck, back, and, rarely, the oral cavity [53]. The distribution is often symmetrical. Unlike vulvar LS, extragenital LS is usually asymptomatic and does not appear to carry the same risk of malignant transformation. (See "Extragenital lichen sclerosus: Clinical features and diagnosis" and 'Association with malignancy' below.)

Vaginal lichen sclerosus – Although vaginal involvement traditionally has not been considered a feature of LS, a few cases of combined vulvar and vaginal LS have been reported [54,55]. These cases appear to be due to prolapse of the vagina resulting in squamatization. Additional studies are necessary to clarify the prevalence of vaginal LS. Unlike vulvar LS, there are no reported cases of vaginal LS resulting in vaginal squamous cell carcinoma (SCC). Cervical LS does not occur. (See 'Association with malignancy' below.)

DIAGNOSIS

General approach — Often, a diagnosis of vulvar LS can be made based upon recognizing characteristic clinical manifestations (white, atrophic plaques in combination with fissures, ecchymoses, and anatomical changes). When necessary, a biopsy and histopathologic examination can be performed to confirm the diagnosis.

Role of biopsy — Not all cases of vulvar LS require a confirmatory biopsy [51,56].

Approach to biopsy in adults – In our practice, we do not biopsy adult patients who have the typical features of vulvar LS, particularly if photography (with appropriate patient consent) is available to clearly document the clinical findings at the time of diagnosis. However, a biopsy is helpful in the following scenarios:

Confirming an uncertain diagnosis – A biopsy is indicated when the diagnosis is uncertain (eg, patients presenting with atypical features). We are also more likely to perform a biopsy when patients present with possible LS during their reproductive years because vulval pallor can occur in vulval dermatitis, which is a more likely diagnosis in this age group.

In general, a pretreatment biopsy is preferred because the typical histologic findings of LS are less evident after treatment with topical or intralesional corticosteroids. Therefore, if there is any level of uncertainty about the diagnosis, early performance of a biopsy is prudent.

Re-evaluating the diagnosis after initial treatment fails. (See "Vulvar lichen sclerosus: Management", section on 'Failure of initial therapy'.)

Assessing for concomitant malignancy in patients with suggestive clinical findings. (See 'Association with malignancy' below.)

Approach to biopsy in children – In children, a vulvar LS diagnosis is often based only on the clinical examination. Biopsy is reserved for children with atypical clinical features or treatment-refractory disease and often requires general anesthetic (given the site and discomfort) [57,58].

Biopsy technique – A 4 mm vulvar punch biopsy typically provides sufficient tissue to confirm the diagnosis and to evaluate for atypical histologic features. (See "Skin biopsy techniques", section on 'Punch biopsy'.)

Interpretation of biopsy findings – On histopathologic examination, the epidermis is typically thinned (accounting for the older nomenclature "lichen sclerosus et atrophicus"), although areas of hyperkeratosis may be observed (picture 7), and early lesions may demonstrate mild, irregular epidermal acanthosis [59]. The upper dermis exhibits homogenization of collagen, with a band of lymphocytes below this region. The characteristic histologic findings may be absent if the biopsy misses an area of active pathology.

Clinical judgment should guide the diagnosis and treatment of LS when biopsy results are not specific. For example, when clinical signs that strongly suggest vulvar LS (eg, local pruritus plus depigmentation or loss of vulvar architecture) are present in conjunction with inconclusive biopsy results, we proceed with treatment for LS. Clinicopathologic correlation with a dermatopathologist can be helpful.

Additional evaluation

Assessment for extragenital lichen sclerosus – A subset of patients with vulvar LS have associated extragenital LS. Performing a full skin examination aids with identifying patients with other sites of LS. (See 'Other sites of involvement' above.)

Assessment for autoimmune disease – Since disorders of the immune system are more common among patients with LS, a review of systems should be performed. When clinical signs or symptoms suggestive of autoimmune disease are evident, we select additional diagnostic studies based upon the suspected autoimmune disease (eg, thyroid disease, diabetes, pernicious anemia). (See 'Etiology' above.)

Recognition of concomitant infection – Clinicians must also remain alert to the possibility of coexisting bacterial or fungal vulvar infections. Investigative studies (eg, microscopy or culture) to diagnose infection should be performed if signs suggestive of vulvar or vaginal infection are present. Some patients may have higher risk for concomitant infection, such as patients with diabetes. (See "Vaginitis in adults: Initial evaluation" and "Candida vulvovaginitis: Clinical manifestations and diagnosis" and "Vulvovaginitis in the prepubertal child: Clinical manifestations, diagnosis, and treatment".)

DIFFERENTIAL DIAGNOSIS — Various other disorders may be confused with vulvar LS. Broader descriptions of the differential diagnoses for vulvar lesions are provided separately:

(See "Vulvar lesions: Differential diagnosis of white lesions".)

(See "Vulvar lesions: Differential diagnosis of vesicles, bullae, erosions, and ulcers".)

(See "Vulvar lesions: Differential diagnosis of red lesions".)

(See "Overview of vulvovaginal conditions in the prepubertal child".)

LS and vulvar lichen planus share several common features and may occur together on the vulva (termed "lichen sclerosus/lichen planus" overlap) [60]:

Vulvar lichen planus – Potential findings of vulvar lichen planus include painful erosions with white striae on the mucosa (erosive lichen planus); pruritic, violaceous papules or plaques on the vulva (papulosquamous lichen planus); or hyperkeratotic plaques on the perineum (hypertrophic lichen planus) (picture 8A-B). Both lichen planus and LS can produce intense pruritus, discomfort (particularly in the erosive subtype of lichen planus), and loss of vulvar architecture (picture 9).

In contrast to LS, erosive lichen planus usually also involves the vagina (inflammation and synechiae). A punch biopsy can be helpful for the diagnosis of lichen planus, especially when reviewed by a dermatopathologist, but the histologic findings may resemble findings in LS. (See "Vulvar lichen planus".)

Examples of disorders that may also present with hypopigmentation on the vulva include:

Vitiligo – Vitiligo produces depigmented patches on the skin (picture 10A-B). Other LS features, such as atrophy, fissuring, hemorrhagic lesions, and hypertrophic lesions, are absent. Vitiligo can be confused with LS if other manifestations of LS are minimal. Vitiligo can usually be diagnosed based on the physical findings. The coexistence of vitiligo and vulvar LS has been reported [20,61]. (See "Vitiligo: Pathogenesis, clinical features, and diagnosis".)

Examples of disorders that may also present with atrophy, erosions, or pain on the vulva include:

Anal fissures – LS with anal involvement can cause painful perianal fissuring and bleeding, and these symptoms can be confused with anal fissures. However, anal fissures are tears of the anal canal, whereas fissures caused by LS are found in the perianal skin.

Chronic anal fissures may present with anal pain and raised edges, exposing white, horizontal fibers of the internal anal sphincter muscles (picture 11). In contrast, cutaneous findings of perianal LS are more extensive, and fissuring is limited to the perianal skin (picture 1B-C). (See "Anal fissure: Clinical manifestations, diagnosis, prevention".)

Mucous membrane pemphigoid – Mucous membrane pemphigoid (MMP), an uncommon immunobullous disease that presents with mucosal inflammation and erosions, should enter the differential diagnosis, particularly if there is marked labial adhesion (picture 12). Associated oral or ocular erosions may be present.

Biopsies are necessary for the diagnosis of MMP. In addition to a biopsy of lesional tissue for routine histopathologic examination, a fresh tissue sample should be taken from an adjacent, normal area of skin for direct immunofluorescence. (See "Clinical features and diagnosis of bullous pemphigoid and mucous membrane pemphigoid", section on 'Clinical features of mucous membrane pemphigoid'.)

Vulvovaginal atrophy – Estrogen deficiency secondary to menopause or premature ovarian failure can lead to a thinned (atrophic) epidermis, labial adhesion, and dyspareunia (picture 13). These changes should begin to respond to topical estrogen within four to six weeks. Failure of a response after 12 weeks should prompt a vulvar biopsy to exclude LS. Vulvovaginal atrophy and LS can coexist. (See "Genitourinary syndrome of menopause (vulvovaginal atrophy): Clinical manifestations and diagnosis" and "Genitourinary syndrome of menopause (vulvovaginal atrophy): Treatment".)

Labial adhesions due to low estrogen can also occur in prepubertal females. (See "Overview of vulvovaginal conditions in the prepubertal child", section on 'Labial adhesions'.)

Examples of disorders that may also present with thickened or inflamed vulvar skin include:

Candida vulvovaginitis Like vulvar LS, vulvovaginal candidiasis can present with chronic vulvar itching or burning (picture 14) [62]. If feasible, a wet mount can be performed to look for hyphae. If the wet mount is negative, then culture may be helpful. Candida vulvovaginitis is common and can coexist with LS. (See "Candida vulvovaginitis: Clinical manifestations and diagnosis".)

Endogenous and exogenous dermatitis – Dermatitis (eczema) of the vulva generally presents as vulvar pruritus and irritation, and clinical findings can range from diffuse erythema, scale, and fissuring to thick lichenification. The labia majora are commonly affected.

Although the etiology classically has been divided into endogenous types of dermatitis (eg, seborrheic dermatitis and atopic dermatitis) and exogenous dermatitis (eg, irritant contact dermatitis and allergic contact dermatitis), the cause is frequently multifactorial. Signs of atopic or seborrheic dermatitis are usually observed elsewhere on the skin. Dermatitis may be indistinguishable from early LS, in which case biopsy is indicated. (See "Vulvar dermatitis".)

Lichen simplex chronicus – Lichen simplex chronicus does not denote a specific disease entity but describes a non-neoplastic, morphologic alteration of vulvar skin related to chronic irritation (picture 15). The vulvar skin appears thickened (lichenified) and may be erythematous, hypopigmented, or hyperpigmented.

Lichen simplex chronicus is diagnosed when anatomic and clinical findings have excluded specific causes of hyperplastic epithelial changes, such as LS, psoriasis, lichen planus, eczema, seborrheic dermatitis, human papillomavirus (HPV) infection, and Candida infection. If the diagnosis remains uncertain, a biopsy can be helpful. The histopathology consists of irregular thickening of the Malpighian layer of rete ridges (acanthosis), hyperkeratosis, and parakeratosis with a mid-dermal inflammatory infiltrate. (See "Vulvar lesions: Differential diagnosis of red lesions", section on 'Lichen simplex chronicus'.)

Psoriasis – Psoriasis can occur in genital locations and is pruritic, but it usually appears with inflamed, well-demarcated plaques (picture 16A-B). The recognition of psoriasis involving other sites of the body can be helpful for diagnosis. Occasionally, a biopsy is needed. (See "Psoriasis: Epidemiology, clinical manifestations, and diagnosis".)

ASSOCIATION WITH MALIGNANCY — Vulvar LS is associated with an increased risk for vulvar squamous cell carcinoma (SCC). Reports of other malignancies in sites of LS are rare. (See 'Squamous cell carcinoma' below and 'Other skin cancers' below.)

Squamous cell carcinoma — Adults with vulvar LS are at a slightly increased risk of developing squamous cell carcinoma (SCC) of the vulva (picture 17A-B) [2,7,44,63-65]. Also, evidence of concomitant vulvar LS is not uncommon in patients with vulvar SCC [66-68].

Risk estimates – Although the risk of vulvar SCC in patients with vulvar LS is increased, this risk is estimated to be less than 5 percent [51,69]. Examples of studies that have assessed risk include:

In a retrospective cohort study of 3038 patients with diagnoses of vulvar LS entered in a Dutch pathology registry between 1991 and 2011, 75 of 2875 females (3 percent) who did not already have a diagnosis of vulvar SCC made close to the time of the vulvar LS diagnosis subsequently developed vulvar SCC [7]. The median time to diagnosis of vulvar SCC was 3.3 years (range 0.27 to 18.4 years) after the diagnosis of vulvar LS.

In an Italian, retrospective study of 976 females with vulvar LS followed for 1 to 331 months (median follow-up of 52 months), 34 (3.5 percent) subsequently received a diagnosis of vulvar neoplasia (vulvar intraepithelial neoplasia or invasive SCC) [70].

A retrospective cohort study in northern Italy compared the incidence of vulvar cancer in females with histologically proven LS versus all females in the reference population (approximately 185,000 females) over 16 years using cancer registry data and found an overall incidence of 2.76 cases of vulvar cancer per 1000 patient-years [71]. Furthermore, vulvar LS accounted for 98 percent of the attributable risk on the incidence of vulvar cancer in this cohort.

It is unclear whether there is an increased risk for vulvar SCC in children with this disease, but it is thought to be unlikely [57].

Reports of SCC in sites of extragenital LS are rare [72]. However, males with penile LS may have an increased risk of penile SCC. (See "Extragenital lichen sclerosus: Management", section on 'Prognosis and follow-up' and "Balanitis in adults".)

Proposed risk modifiers – Distinguishing cases of LS with a high likelihood of evolving into SCC is an active area of investigation [73]:

Age and vulvar intraepithelial neoplasia – The retrospective cohort study of 3038 patients diagnosed with vulvar LS between 1991 and 2011 in a Dutch pathology registry found a higher incidence rate of vulvar SCC cancer development in females with LS who had concurrent vulvar intraepithelial neoplasia or were aged ≥70 years old at the time of diagnosis [7]. Differentiated vulvar intraepithelial neoplasia is a precursor to SCC and is often associated with LS (picture 18) but not human papillomavirus (HPV) infection. Usual type vulvar intraepithelial neoplasia, also a premalignant lesion, is mediated by HPV but is less likely to be associated with LS. (See "Vulvar cancer: Epidemiology, diagnosis, histopathology, and treatment", section on 'Risk factors and etiology'.)

Interferon regulatory factor 6 – A study that compared expression of the interferon regulatory factor 6 (IRF6) tumor suppressor gene in specimens of vulvar SCC with adjacent vulvar LS, cancer-free vulvar LS, and normal skin from a total of 60 females found that dysregulation of the IRF6 gene via methylation of the IRF6 promoter may play a role in the development of vulvar SCC in vulvar LS [74]. Further study is necessary to determine whether methylation of the IRF6 promoter is a useful marker of cancer risk.

Disease status and management – Further study is necessary to clarify the impact of disease status (eg, duration) and management on risk for SCC. The level of adherence to topical corticosteroid treatment is a proposed modifying factor:

-A prospective cohort study of 507 female adults with vulvar LS followed over six years compared females who reported adherence to treatment (use of maintenance corticosteroids as directed all or most of the time) versus those who reported less adherence to treatment (use of maintenance topical corticosteroids as directed some, little, or none of the time). There was a statistically significant inverse association between treatment adherence and the risk of vulvar neoplasia (0 cases among 357 females in the adherent group versus 4 differentiated vulvar intraepithelial neoplasias and 3 invasive SCCs among 150 females in the nonadherent group [4.7 percent]) [75].

Other skin cancers — There are case reports of melanoma, basal cell carcinoma, and Merkel cell carcinoma with LS, but a relationship between LS and these cancers has not been established [51]. There are rare reports of vulvar melanoma developing in association with vulvar LS in adults and children [76]. Penile melanoma in males with genital LS has been reported [77].

SOCIETY GUIDELINE LINKS — Links to society and government-sponsored guidelines from selected countries and regions around the world are provided separately. (See "Society guideline links: Lichen sclerosus".)

INFORMATION FOR PATIENTS — UpToDate offers two types of patient education materials, "The Basics" and "Beyond the Basics." The Basics patient education pieces are written in plain language, at the 5th to 6th grade reading level, and they answer the four or five key questions a patient might have about a given condition. These articles are best for patients who want a general overview and who prefer short, easy-to-read materials. Beyond the Basics patient education pieces are longer, more sophisticated, and more detailed. These articles are written at the 10th to 12th grade reading level and are best for patients who want in-depth information and are comfortable with some medical jargon.

Here are the patient education articles that are relevant to this topic. We encourage you to print or e-mail these topics to your patients. (You can also locate patient education articles on a variety of subjects by searching on "patient info" and the keyword(s) of interest.)

Basics topics (see "Patient education: Lichen sclerosus (The Basics)")

Beyond the Basics topics (see "Patient education: Vulvar lichen sclerosus (Beyond the Basics)")

SUMMARY AND RECOMMENDATIONS

Overview – Lichen sclerosus (LS) refers to a benign, chronic, progressive, dermatologic condition characterized by marked inflammation, epithelial thinning, and distinctive dermal changes that are often accompanied by pruritus and pain. LS usually occurs in the anogenital region but can develop on any skin surface in adults and children (picture 1A-B). (See 'Introduction' above and "Extragenital lichen sclerosus: Clinical features and diagnosis".)

Clinical manifestations:

Mucocutaneous findings – The classic appearance is thin, white, wrinkled skin localized to the labia minora and/or labia majora (picture 1A, 1D), although the whitening may extend over the perineum and around the anus in a keyhole fashion (picture 1B). Areas of epithelial hyperplasia from chronic rubbing are often seen. Fissuring is frequently present perianally, in the interlabial folds, or around the clitoris. At the end stages, the vulva is pallid and featureless due to midline fusion. (See 'Physical findings' above.)

Symptoms – Vulvar pruritus is a common symptom of vulvar LS and can be so intense that it interferes with sleep. Other symptoms include pruritus ani, painful defecation, rectal bleeding, dyspareunia, and dysuria. However, some patients are asymptomatic. (See 'Symptoms' above.)

Diagnosis – The diagnosis of vulvar LS can often be made based on the recognition of characteristic clinical manifestations. When the diagnosis is uncertain, a skin biopsy can be helpful for confirming the diagnosis. (See 'Diagnosis' above.)

Association with malignancy – There is a slightly increased risk of squamous cell carcinoma (SCC) of the vulva in patients with LS. Adequate treatment of the disease may be associated with a reduced risk of development of neoplasia. (See 'Association with malignancy' above.)

ACKNOWLEDGMENTS — The UpToDate editorial staff acknowledges Elizabeth G Stewart, MD, and Susan M Cooper, MB ChB, MRCGP, FRCP, MD, who contributed to earlier versions of this topic review.

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