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Laboratory Testing for Lichen Sclerosus

Biopsy is the essential laboratory investigation for lichen sclerosus and should be performed in all suspected cases to confirm diagnosis and rule out squamous cell carcinoma. 1

Diagnostic Approach

When to Perform Biopsy

• Biopsy is recommended in all patients suspected of having lichen sclerosus to establish definitive diagnosis and exclude malignancy, particularly squamous cell carcinoma which has a strong association with this condition 1
• The British Association of Dermatologists emphasizes that biopsy may be necessary in atypical or treatment-resistant cases to confirm diagnosis and exclude other conditions 1
• Initial lesion biopsy for definitive diagnosis is a critical, well-established element in the management of lichen sclerosus 1

Histological Features to Identify

• Classical histological features include lymphocytic infiltration characteristic of this autoimmune, inflammatory dermatosis 1
• The British Association of Dermatologists notes that some cases may represent overlap syndromes sharing features of both lichen sclerosus and lichen planus, often associated with squamous cell hyperplasia - these "complicated" cases may respond poorly to standard treatment 1
• Periodic acid-Schiff (PAS) staining can be used when fungal infection (onychomycosis) is in the differential diagnosis, though this is more relevant for nail involvement 1

Laboratory Investigations Beyond Biopsy

Autoimmune Screening

• There is mounting evidence of autoimmune mechanisms in pathogenesis, with increased incidence of tissue-specific antibodies in patients with lichen sclerosus 1
• Patients with lichen sclerosus have associations with other autoimmune diseases and positive associations with HLA class II antigens 1
• Approximately 22% of patients have autoimmune disease, 42% have autoantibodies, and 60% have one or more autoimmune-related phenomena 1

Differential Diagnosis Considerations

• Laboratory testing helps differentiate lichen sclerosus from conditions like lichen planus, vitiligo, psoriasis, vulvar intraepithelial neoplasia (in females), and erythroplasia of Queyrat (in males) 1
• In nail involvement cases, calcofluor white or potassium hydroxide microscopy and fungal culture may be needed to exclude onychomycosis, though these yield results in 2-6 weeks 1

Common Pitfalls and How to Avoid Them

• Do not rely solely on clinical appearance - the British Association of Dermatologists emphasizes that biopsy confirmation is essential even when clinical features appear typical 1
• Do not miss the malignancy risk - squamous cell carcinoma has a strong association with lichen sclerosus, making histological confirmation critical for initial diagnosis and long-term surveillance 1
• Recognize that disease definition has historically been unreliable in some reports, which can complicate interpretation of "therapy-resistant cases" that may have atypical features 1