Approach

​Lichen sclerosus (LS) predominantly affects the genitals (but can also manifest as extragenital lesions).[1][2]​ Diagnosis of LS is typically clinical, but may be aided by skin biopsy if there is diagnostic uncertainty. 

Always have a high index of suspicion for LS when a patient presents with skin lesions resembling white, crinkly/atrophic plaques, with or without associated symptoms of pruritus or pain; the patient may describe 'irritation'. Misdiagnosis/underdiagnosis is common.

  • Bear in mind that patients may present with extragenital skin lesions, but this is a less common manifestation of LS; around 6% to 15% of all cases are of isolated extragenital lesions.[1][2] Extragenital skin lesions are often asymptomatic but may be associated with pruritus. If a patient presents with extragenital disease, ask about anogenital symptoms as a part of the history and perform an examination of the genitalia in addition to a general skin examination. 

Early diagnosis is key because initiating timely intervention leads to resolution of symptoms, as well as reduction or prevention of scarring, and reduces the risk of progression to malignancy in the majority of anogenital cases. Left untreated, anogenital LS can lead to scarring and obliteration of normal anatomical structures, such as loss of the labia minora and narrowing of the introitus in women, or phimosis in men; patients often first present with these features.

Occasionally, the first presentation of LS will be when squamous cell carcinoma (SCC) develops: a plaque, ulcer, or nodule arises and enlarges very quickly, sometimes within weeks. See Squamous cell carcinoma of the skin.

Consider key differential diagnoses, including vitiligo, lichen planus, and psoriasis; the condition may also mimic/be present alongside the autoimmune condition morphea. In men, also consider other causes of balanoposthitis, including other inflammatory skin conditions such as Zoon balanitis (plasma cell balanitis) or infections. See Balanoposthitis.

History

Take a comprehensive history; ask all patients with suspected LS about:

  • Other vulval/anogenital conditions/irritants, and anogenital cleaning methods

    • Many patients with LS will have other associated conditions (e.g., irritant contact dermatitis or allergic contact dermatitis), caused by self-management with non-prescription drugs and approaches.

    • Perfumed hygiene products and soaps may further exacerbate the condition and their use should also be enquired about.

    • Some patients may aggressively clean affected areas with a washcloth/sponge, causing further trauma to the skin.

    • Ask about symptoms of urinary or faecal incontinence, which may exacerbate the condition.[32][33][34]​​​​​ In some men, exposure to urine via urinary dribbling or incontinence has also been reported as a trigger for the condition.[34][35]

    • Ask about other potential mechanical triggers/exacerbators, such as bicycle riding/wearing of tight clothing.[34]

  • A personal history of autoimmune conditions

    • LS in women has been associated with various autoimmune conditions and most commonly with autoimmune thyroid disorders.[23]

      • A large case-control study of 765 women with LS found a statistically significant association of autoimmune conditions including autoimmune thyroiditis (odds ratio [OR] 2.67, P <0.001), hypothyroidism (OR 2.34, P <0.001), and hyperthyroidism (OR 2.05, P <0.001) compared with matched controls.[24]​​

    • LS may also mimic/be present alongside the autoimmune conditions morphea and vitiligo.

    • Autoimmune disorders may be more commonly found in women with LS compared with men with the condition.

      • One study of 532 patients found that LS was significantly more often associated with at least one autoimmune disease in women compared with men (OR 4.3, 95% CI 1.9 to 9.6).[25]

  • A history of metabolic syndrome

    • Obesity, and the associated condition metabolic syndrome, are more common in patients with LS.[15][26][27]​​

    • One cross-sectional study found that adult patients with LS were more frequently overweight or obese (age-standardised prevalence ratio 1.44, 95% CI 1.30 to 1.59).[15]

  • A family history of LS

    • Studies estimate that between 8% and 12% of women with LS have a first-degree relative with the condition.[19][20]

  • Extragenital manifestations

    • Extragenital disease presents with atrophic white patches or plaques that are often asymptomatic, but sometimes may cause pruritus. Extragenital disease may involve any site on the body but is often found in flexural areas, the buttocks, thighs, breasts, trunk, and extremities.[11][36]

    • LS may rarely affect the oral cavity, presenting as irregular whitish patches on the oral mucosa/lips.[7][37][38]

    • Approximately 20% of women with anogenital LS have extragenital lesions.[36]​ Note that only around 6% to 15% of all cases are of isolated extragenital lesions.[1][2]

    • LS may appear on areas of skin that have been exposed to trauma: for example, in operative scars or on skin exposed to tight clothing or other mechanical trauma.[11][34]​ The precipitation of disease activity in areas of trauma is known as the Koebner phenomenon.

  • Functional limitations and issues with mental health due to the condition

    • LS can have a significant impact on a patient’s quality of life and can lead to issues such as:[39][40][41][42][43][44]

      • Difficulty walking

      • Difficulty sitting

      • Anxiety

      • Depression

      • Issues with self-esteem

      • Reduced sexual functioning.

Tailor further enquiry based on the sex and age of the patient as detailed below.

Adult women

Although most women with anogenital LS present with signs and symptoms of the condition, some may be asymptomatic (with the condition discovered incidentally).[45]

Ask women about common anogenital symptoms, which may include:[3]

  • Pruritus (specifically ask if the patient feels the urge to scratch)

    • One cross-sectional study of 503 women aged between 18 and 50 years with biopsy-confirmed LS found that symptoms of pruritus prompted 31% to seek medical attention.[46]

    • Often worse at night and can disturb sleep.[35]

  • Pain/burning/discomfort of the skin

    • This may cause difficulties with walking, sitting, and sexual intercourse, as well as causing issues such as anxiety and depression.[39][40][41][42][43]​​​​[44]

  • Dysuria

    • Can occur in untreated disease due to urine coming into contact with inflamed and fissured/eroded skin.

    • In children, dysuria may lead to a fear of voiding and subsequent overflow incontinence.[7]

  • Dyspareunia (painful intercourse) with or without tearing and/or bleeding during intercourse

    • Can occur in sexually active women with anogenital LS at any time during the course of the condition; may be attributed to active skin inflammatory changes (causing atrophy, erosions, or fissures) or, although there is no robust evidence to support this, has been postulated to be due to resulting nerve and muscular changes in the setting of a chronic overlying inflammatory condition.[40][47]​​​ In one systematic review and meta-analysis, 59% of 486 women with LS reported sexual dysfunction.[47]

    • Dyspareunia can also develop due to functional limitations associated with scarring.[40][46][47]​​​ One cross-sectional study of 503 women with biopsy-confirmed LS found common presenting symptoms to include dyspareunia (68%) and tearing with intercourse or vaginal insertion (63%).[46]

Also ask about constipation, but bear in mind that adult women rarely present with symptoms of constipation and/or painful defecation.[36]​ Constipation is more commonly seen in paediatric patients.

Adult men

In men, genital LS almost exclusively occurs in those who are uncircumcised (note that circumcision may be curative in male genital disease, particularly if carried out early).[31][48]​​​ LS of the penis may be asymptomatic, but diverse and vague symptomatology may be encountered.[48][49][50]

LS in men (and boys) most commonly occurs on the glans penis, coronary sulcus, urethral meatus, and/or foreskin. Rarely, the penile shaft, perineal, scrotal, and perianal skin may be affected.[35]​ Pruritus is also relatively uncommon.[35]

Men with untreated penile LS may develop sclerosis and narrowing of the foreskin, leading to phimosis or adhesions of the foreskin to the glans, which may cause sexual dysfunction/dyspareunia and urethral disease.[50]​ Note that secondary phimosis in men is commonly due to LS.

Ask men about common symptoms of penile LS, including:[6][35]​​

  • Pain, dysuria, and/or changes in urinary stream, which may be caused by meatal stenosis (abnormal narrowing of the urethral opening)

  • Dyspareunia/sexual dysfunction

  • Colour changes in the affected area

  • Constrictive posthitis (foreskin tightening).

Enquire about a history of phimosis/paraphimosis.

Paediatric patients

Note that some paediatric patients (especially boys) may be asymptomatic, with lesions discovered incidentally by parents or carers.

In prepubertal girls, there may be a wide range of presenting complaints that may include the more classical signs and symptoms of skin changes and associated discomfort/irritation as described by adult women. In girls, ask about:[7]

  • Vulval discomfort/pain (may be worse at night)

  • Pruritus (may be worse at night)

  • Anogenital/vulval bleeding due to skin fissures

  • Constipation

  • Painful defecation (may lead to constipation)

  • Urinary tract symptoms such as dysuria, fear of voiding, and consequential overflow incontinence.

Like adult women, adolescent girls who are sexually active may also have symptoms of dyspareunia with associated lacerations at the base of the posterior fourchette due to trauma during intercourse.[7]

In boys with suspected LS, ask about phimosis. Bear in mind that a tight phimosis may hide typical skin changes described for adult men.[51]

  • Phimosis is the most frequent presentation of LS in boys, with reported incidence ranging from 12% to 100%.[9][35][52][53]​​[54]​​

  • Perianal involvement is rare.[35]

Older boys who are sexually active may also present with symptoms of dyspareunia.

It is also important to note that sexual abuse may sometimes be suspected in children with LS presenting with ecchymoses (bleeding within the skin leading to bruising) and erosions, which may lead to a missed diagnosis of LS.[55]​ Be aware, however, that a diagnosis of LS does not exclude sexual abuse, and mechanical trauma due to sexual abuse has been implicated in both development and persistence of LS lesions secondary to the Koebner phenomenon.

Physical examination

Perform a thorough examination of all skin surfaces including genitalia and oral cavity in the patient with a suspected diagnosis of LS. LS predominantly affects the anogenital area, although there may be evidence of extragenital disease in a subset of patients.

Anogenital disease

Patients with anogenital LS will often present with both colour and texture change in the affected area.[3]​ Signs vary depending on the degree of inflammation and the stage of disease/healing. These may include:[3][56]

  • Purpura/ecchymoses

    • Pathognomonic of the condition; commonly due to scratching-related trauma secondary to pruritus.

    • May develop due to trauma to affected skin during sexual intercourse or defecation.[57]

  • Whitening of skin

    • May be mistaken for vitiligo.

    • In some women, patches of whitening may become confluent and extend around the vulval/perianal skin, with a 'figure of eight' appearance.

  • Changes in skin texture such as atrophy, sclerosis, lichenification, and/or hyperkeratosis

    • Crinkly/fine wrinkling of skin is classical, but there may be smooth, shiny/waxy, or hyperkeratotic changes.

  • Excoriations

  • Fissures (linear breaks in the skin)

  • Erosions (circumscribed lesions due to intraepithelial loss of the epidermis; usually depressed)

  • Ulcerations (shallow open areas of skin due to full thickness loss of the epidermis and damage to the dermis)

  • Erythema (redness of skin)

    • May not be as prominent in darker skin tones.

As the condition progresses, scarring of the anogenital area may also occur in women and girls with untreated LS.[3]​ Look for such changes, including:

  • Clitoral hood fusion

  • Labia fusion/resorption

  • Narrowing of the introitus

  • Anterior changes (may include the clitoral hood, often extending to midline agglutination of labia majora between clitoral unit and vestibule anterior to urethra; LS does not involve the clitoris)

  • Perianal involvement

  • Formation of posterior commissure bands/fourchette webs.

Scarring and subsequent loss of normal anatomical structure may be seen in untreated disease and usually develops in the setting of chronic inflammation, often with silent progression.[58]​ Once scarring develops, it cannot be reversed.

[Figure caption and citation for the preceding image starts]: Vulval lichen sclerosus showing white plaques and scarring with some loss of the labia minoraDalziel K et al. BMJ 2010; 340: c731; used with permission [Citation ends].com.bmj.content.model.Caption@171bc274

In men/boys, LS may cause constrictive posthitis (foreskin tightening) leading to paraphimosis or phimosis.[8][9]

[Figure caption and citation for the preceding image starts]: Lichen sclerosus of glans penis in adult showing whiteness and purpuraDalziel K et al. BMJ 2010; 340: c731; used with permission [Citation ends].com.bmj.content.model.Caption@62bb58bc

Extragenital disease

Fully inspect all areas of the skin for extragenital disease.

  • Extragenital plaques are typically depigmented but may also present with hyperkeratosis and follicular plugging.

  • Extragenital disease may affect any site on the body; it is most typically seen in flexural areas, the buttocks, thighs, breasts, trunk, and extremities.[11]

  • A specialist may use dermoscopy in patients with suspected LS; dermoscopy may reveal structureless white to yellow areas (most commonly), chrysalis-like structures, linear irregular vessels, and perifollicular scaling.[59][60]​

Examine the lips and oral cavity; look for irregular whitish patches on the oral mucosa/lips.

  • Rarely, LS may affect the oral cavity.[7][37][38]

Look for signs of Koebnerisation (the precipitation of disease activity in areas of trauma).

  • LS may appear on skin subjected to trauma: for example, in operative scars, on areas of skin exposed to tight clothing, or from bicycle saddles in cyclists, or other mechanical trauma.[11][34]

Initial investigations

Diagnosis is usually based on clinical findings. Have a high index of suspicion when patients present with depigmented crinkly texture changes to the skin (in the anogenital areas or less commonly in extragenital locations) or with architectural changes in the anogenital area.[45]

Indications for biopsy include:[35][56]​​​​[61]​​​

  • Concern for malignancy

  • Failure of initial treatment

  • Diagnostic uncertainty

  • Atypical cases.

Immunohistochemistry with CD34 following biopsy may be useful for differentiating LS from other lichenoid dermatitides such as lichen planus, as CD34 expression is often absent in areas of affected visible collagen.[62][63]

Note that biopsy samples are generally not taken from children with suspected LS; however, refer children who do not respond to initial therapy or in whom there is diagnostic doubt for specialist input and consideration of biopsy (i.e., to a paediatric dermatologist or paediatric gynaecologist with expertise in vulval disorders).[7]

Specialist referral

If biopsy is indicated, the results will usually confirm the diagnosis. However, if biopsy does not provide definitive diagnosis, refer the patient to a specialist, who may consider further investigations.

  • If the diagnosis remains unclear following further investigations, then clinical judgement should determine next steps. Some experts advocate a trial of treatment to help diagnose the condition in these instances, given most cases of LS are responsive to topical corticosteroids. However, this is not a widely accepted approach because there are other conditions, including some differentials, which also respond to topical corticosteroids.

Emerging tests

Emerging diagnostic methods that are not routinely used at present but have shown promise in small preliminary studies include non-invasive imaging techniques such as optical coherence tomography (OCT) and high-frequency ultrasound.[64][65][66]

  • One small observational study that included 25 women, 10 of whom had LS, used a combination of OCT and dermatoscopy to define characteristics to aid differentiation of affected skin from healthy vulvar skin, which could complement clinical assessment.[64]

  • One high-frequency ultrasound study of lesions from 40 patients with confirmed LS found that a hypoechoic dermal band was present in all lesions, with a significant linear positive correlation between the histopathological depth and corresponding hypoechoic dermal band thickness. The authors concluded that high-frequency ultrasound characteristics may provide valuable information in the precise diagnosis and the treatment monitoring of vulval LS.[66]

Further assessment of the utility and applicabilities of these diagnostic methods is warranted.

Pitfalls

Watch for patients presenting without classical signs and symptoms or histological features of LS.

  • In particular, note that some patients with LS may have non-specific erythema and linear fissures (mimicking other skin conditions such as dermatitis) without classic late-stage scarring, but present with dyspareunia; these patients often have negative biopsy results.[67]

  • Some patients may have asymptomatic skin lesions.[45]

Be aware that there may be significant delay between disease onset and presentation, owing to patient embarrassment or in some cases due to the clinician’s lack of familiarity with the condition/failure to examine the genital skin.[15]

  • Patients with untreated disease may present with scarring or architectural changes such as clitoral hood fusion, labia fusion/resorption, narrowing of the introitus, anterior changes (may include the clitoral hood, often extending to midline agglutination of labia majora between clitoral unit and vestibule anterior to urethra; note that LS never affects the clitoris itself), and formation of posterior commissure bands.[3][35]

Bear in mind that LS is frequently misdiagnosed; in particular:

  • Patients with LS who have non-specific clinical signs, such as linear fissures and erythema, may be misdiagnosed with vulvovaginal yeast infection (candidiasis).[46]

    • Consider early LS in patients with suspected fungal infection who have a negative potassium hydroxide (KOH) preparation or culture but continue to have symptoms such as pruritus or soreness.

    • One cross-sectional study of 503 women with biopsy-confirmed LS found, on average, a 4-year delay between symptom onset and diagnosis, with 66% initially receiving an alternative diagnosis; 49% of these women were misdiagnosed as having a vulvovaginal yeast infection.[46]

  • LS occurring in extragenital sites alongside morphea can be misdiagnosed as morphea alone (also known as localised scleroderma), which has a similar clinical and histological presentation to LS.[68][69]

    • In one study of 76 patients diagnosed with morphea, 45% were also found to have previously undiagnosed LS.[69]

  • Irritation, dryness, pruritus, and dyspareunia may occur as a part of the genitourinary syndrome of menopause (GSM) and misdiagnosis of LS as GSM (and vice versa) may occur when these symptoms and associated signs are present.[42]

Numerous other dermatological conditions affecting the anogenital area may present in a similar fashion to LS - see Differentials.

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