Lichen sclerosus et atrophicus
disease diseaseOn this page
Also known as lichen sclerosislichen sclerosis et atrophicuslichen sclerosusLSA
Summary
Lichen sclerosus et atrophicus (MONDO:0007899) is a disease with 28 GWAS associations across 5 studies and 21 clinical trials. Top therapeutic interventions include clobetasol propionate, betamethasone dipropionate, and pimecrolimus. A subtype of dermatitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 28
- Clinical trials: 21
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | lichen sclerosus et atrophicus |
| Mondo ID | MONDO:0007899 |
| MeSH | D018459 |
| OMIM | 151590 |
| Orphanet | 33409 |
| ICD-10-CM | L90.0 |
| NCIT | C26817 |
| SNOMED CT | 25674000 |
| UMLS | C0023652 |
| MedGen | 7338 |
| Is cancer (heuristic) | no |
Also known as: lichen sclerosis · lichen sclerosis et atrophicus · lichen sclerosus · lichen sclerosus et atrophicus · LSA
Data availability: 28 GWAS associations (5 studies).
Disease family
This is a subtype of dermatitis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › dermatitis › lichen sclerosus et atrophicus
Related subtypes (32): spongiotic dermatitis, atopic eczema, psoriasis, contact dermatitis, urticaria, acneiform dermatitis, acrodermatitis, folliculitis, granuloma annulare, granulomatous dermatitis, lichen planus, neurodermatitis, neurotic excoriation, parapsoriasis, pityriasis rosea, seborrheic dermatitis, acanthosis nigricans, dermatosis papulosa nigra, vitiligo, acne, porphyria cutanea tarda, dermatomyositis, acute generalized exanthematous pustulosis, hydroa vacciniforme, autoimmune bullous skin disease, cutaneous vasculitis, skin infection, intertrigo, lipodermatosclerosis, exfoliative dermatitis, radiodermatitis, food dermatitis
Subtypes (1): vulvar lichen sclerosus
Genetics & variants
GWAS landscape
28 GWAS associations across 5 studies. Top hits map to 12 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs12661806 | 2e-83 | HLA-DRB1 - HLA-DQA1 | A | 0.42 |
| rs112457525 | 2e-79 | HLA-DRA - HLA-DRB9 | A | 2.43 |
| HLA-DRB1*12:01 | 8e-63 | ? | 2.54 | |
| rs2949661 | 2e-17 | CD247 | T | 0.85 |
| rs6732565 | 2e-15 | ACOXL | A | 1.15 |
| rs76715626 | 8e-12 | IL4R - IL21R | T | 0.74 |
| rs200440599 | 2e-11 | TYMSP2 - ZBTB32 | A | 0.69 |
| rs10795791 | 1e-10 | IL2RA - RPL32P23 | A | 0.9 |
| rs140952221 | 1e-10 | IGFLR1 | T | 0.73 |
| rs4766578 | 3e-10 | ATXN2 | A | 0.89 |
| rs7968808 | 2e-09 | LRRC43 | T | 1.11 |
| rs539870576 | 3e-09 | RN7SL335P - BLTP1 | T | 1.2 |
| rs1042121 | 4e-09 | HLA-DPB1, HLA-DPA1 | T | 0.76 |
| rs228955 | 2e-08 | IL2RB | T | 0.91 |
| rs187661678 | 3e-08 | ROCR, LINC01152 | T | 5.74 |
| rs79376089 | 4e-08 | IFITM3P8 - NASPP1 | A | 1.22 |
| rs6887783 | 5e-08 | MIR3142HG | T | 1.11 |
| rs1494564 | 5e-08 | SPEF2 - IL7R | T | 0.91 |
| rs80249197 | 4e-07 | MIMT1 - RPL7AP69 | A | 1.81 |
| rs7590736 | 7e-07 | QPCT - CDC42EP3-AS1 | T | 0.4 |
| rs440094 | 8e-07 | TMEM63C | T | 0.69 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90824102 | Dand N | 2026 | 7,651 | 738,739 | Genome-wide meta-analysis in lichen sclerosus identifies 14 genomic risk loci. |
| GCST90824100 | Dand N | 2026 | 6,681 | 407,255 | Genome-wide meta-analysis in lichen sclerosus identifies 14 genomic risk loci. |
| GCST90824101 | Dand N | 2026 | 970 | 331,484 | Genome-wide meta-analysis in lichen sclerosus identifies 14 genomic risk loci. |
| GCST90080375 | Backman JD | 2021 | 555 | 387,375 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084361 | Backman JD | 2021 | 555 | 387,375 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 2 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 19 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 14 |
| low_freq (0.01-0.05) | 6 |
| rare (<0.01) | 1 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 9 |
| intergenic_variant | 8 |
| missense_variant | 2 |
| unknown | 1 |
| non_coding_transcript_exon_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs12661806 | 6 | 32615763 | A>T | 0.023 | intergenic_variant | HLA-DRB1 - HLA-DQA1 | 2e-83 | Tier 4: intronic/intergenic |
| rs112457525 | 6 | 32447652 | G>A,C | 0.023 | intron_variant | HLA-DRA - HLA-DRB9 | 2e-79 | Tier 4: intronic/intergenic |
| HLA-DRB1*12:01 | 0.022 | 8e-63 | Tier 4: intronic/intergenic | |||||
| rs2949661 | 1 | 167455687 | C>A,G,T | 0.338 | intron_variant | CD247 | 2e-17 | Tier 4: intronic/intergenic |
| rs6732565 | 2 | 110850255 | A>G,T | 0.392 | intron_variant | ACOXL | 2e-15 | Tier 4: intronic/intergenic |
| rs76715626 | 16 | 27386721 | T>C | 0.058 | intergenic_variant | IL4R - IL21R | 8e-12 | Tier 4: intronic/intergenic |
| rs200440599 | 19 | 35697580 | AAAG>A,AAAGAAG | 0.051 | intergenic_variant | TYMSP2 - ZBTB32 | 2e-11 | Tier 4: intronic/intergenic |
| rs10795791 | 10 | 6066377 | A>G | 0.475 | intergenic_variant | IL2RA - RPL32P23 | 1e-10 | Tier 4: intronic/intergenic |
| rs140952221 | 19 | 35740387 | C>A,T | 0.047 | missense_variant | IGFLR1 | 1e-10 | Tier 1: coding |
| rs4766578 | 12 | 111466567 | T>A | 0.463 | intron_variant | ATXN2 | 3e-10 | Tier 4: intronic/intergenic |
| rs7968808 | 12 | 122177244 | C>A,T | 0.44 | intergenic_variant | LRRC43 | 2e-09 | Tier 4: intronic/intergenic |
| rs539870576 | 4 | 122115655 | C>A,G,T | 0.081 | intergenic_variant | RN7SL335P - BLTP1 | 3e-09 | Tier 4: intronic/intergenic |
| rs1042121 | 6 | 33080765 | C>A,G,T | 0.499 | missense_variant | HLA-DPB1, HLA-DPA1 | 4e-09 | Tier 1: coding |
| rs228955 | 22 | 37136659 | C>T | 0.463 | intron_variant | IL2RB | 2e-08 | Tier 4: intronic/intergenic |
| rs187661678 | 17 | 72040543 | C>T | 0.004 | non_coding_transcript_exon_variant | ROCR, LINC01152 | 3e-08 | Tier 4: intronic/intergenic |
| rs79376089 | 8 | 60929420 | G>A | 0.057 | intron_variant | IFITM3P8 - NASPP1 | 4e-08 | Tier 4: intronic/intergenic |
| rs6887783 | 5 | 160495202 | T>G | 0.331 | intron_variant | MIR3142HG | 5e-08 | Tier 4: intronic/intergenic |
| rs1494564 | 5 | 35851729 | C>A,G,T | 0.314 | intron_variant | SPEF2 - IL7R | 5e-08 | Tier 4: intronic/intergenic |
| rs80249197 | 19 | 56911790 | G>A | 0.041 | intergenic_variant | MIMT1 - RPL7AP69 | 4e-07 | Tier 4: intronic/intergenic |
| rs7590736 | 2 | 37395613 | T>G | 0.011 | intergenic_variant | QPCT - CDC42EP3-AS1 | 7e-07 | Tier 4: intronic/intergenic |
| rs440094 | 14 | 77236800 | T>C,G | 0.08 | intron_variant | TMEM63C | 8e-07 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 21.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 17 |
| PHASE3 | 2 |
| PHASE2 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07335588 | PHASE3 | RECRUITING | A 52-Week Trial to Investigate the Efficacy and Safety of Delgocitinib Cream in Adult Participants With Lichen Sclerosus |
| NCT05010421 | PHASE3 | COMPLETED | Laser vs Clobetasol for Lichen Sclerosus |
| NCT00393263 | PHASE2 | COMPLETED | Clobetasol Versus Pimecrolimus for Vulvar Lichen Sclerosus |
| NCT05593445 | PHASE2 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Ruxolitinib Cream in Participants With Lichen Sclerosus |
| NCT06135402 | Not specified | RECRUITING | Comparison of Laser Treatment With Clobetasol Therapy in Patients With Lichen Sclerosus |
| NCT06472765 | Not specified | ENROLLING_BY_INVITATION | Vaginal Ecosystem and Network in the United States Study |
| NCT06984263 | Not specified | RECRUITING | Male Lichen Sclerosus - Risk Factors, Treatment, and Impact on Quality of Life |
| NCT02223975 | Not specified | SUSPENDED | Evaluation of the Role of Vibrational Spectroscopy in the Assessment of Vulval Disease |
| NCT02732145 | Not specified | COMPLETED | Diagnostic Accuracy of Three Rings Vulvoscopy for Detection of Vulvar Dermatosis |
| NCT02794363 | Not specified | COMPLETED | Platelet Rich Plasma Injections for Vulvar Lichen Sclerosus |
| NCT02880904 | Not specified | TERMINATED | Vulvar Scarring Grading Scale for Lichen Sclerosus |
| NCT02881229 | Not specified | TERMINATED | Vulvar Mucosal Specialty Clinic Chart Review |
| NCT03063684 | Not specified | COMPLETED | Fractional / Pixel CO2 Laser Treatment of Vulvar Atrophy and Lichen Sclerosus |
| NCT03419377 | Not specified | COMPLETED | Lichen Sclerosus - the Influence on Quality of Life |
| NCT03525522 | Not specified | UNKNOWN | Nd:Yttrium Aluminum Garnet Laser Treatment for Lichen Sclerosus |
| NCT03561428 | Not specified | UNKNOWN | Biomarkers of Lichen Sclerosus |
| NCT03665584 | Not specified | COMPLETED | MonaLisa Touch Laser for the Treatment of Vulvar Lichen Sclerosus |
| NCT04073082 | Not specified | UNKNOWN | Safety and Efficacy of Laser Therapy in Gynaecology |
| NCT04697563 | Not specified | COMPLETED | Laser Therapy in Women With Lichenoid Disorders |
| NCT05396261 | Not specified | COMPLETED | a Flexible Wound Dressing for the Management of Genital Skin Conditions |
| NCT05671263 | Not specified | UNKNOWN | Genital Lichen Sclerosus - Epidemiology, Comorbidities and the Role of Vulvar and Penile Microbiome |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CLOBETASOL PROPIONATE | 4 | 3 |
| BETAMETHASONE DIPROPIONATE | 4 | 1 |
| PIMECROLIMUS | 4 | 1 |
| CLOBETASOL | 3 | 3 |
| DELGOCITINIB | 3 | 1 |
| VEHICLE | 0 | 2 |
| CHEMBL5421204 | 0 | 1 |