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Kindler Epidermolysis Bullosa

1. Disease Information

2026-05-09
Falcon MONDO:0008260 Model: Edison Scientific Literature 54 citations

1. Disease Information

1.1 What is the disease? (concise overview)

Kindler syndrome/KEB is a distinct subtype of inherited epidermolysis bullosa characterized by skin fragility with blistering, photosensitivity, and progressive poikiloderma and atrophy, often accompanied by mucosal inflammation and fibrotic stenoses; it is caused by loss-of-function FERMT1 variants leading to kindlin‑1 deficiency. (laicheong2010kindlersyndrome. pages 3-5, laicheong2015kindlersyndrome pages 5-7, has2010mildclinicalphenotype pages 1-1)

1.2 Key identifiers and codes

  • OMIM disease: Kindler syndrome / Kindler epidermolysis bullosa: OMIM 173650 (explicitly stated in a peer-reviewed KS case report). (has2010mildclinicalphenotype pages 1-1)
  • Other identifiers (Orphanet ORPHA, ICD‑10/ICD‑11, MeSH, MONDO): Not extractable from the currently retrieved full-text set using available tools; these codes typically require direct database queries to OMIM/Orphanet/ICD/MeSH/MONDO services, which are not available in the current toolset. (has2010mildclinicalphenotype pages 1-1)

1.3 Synonyms and alternative names

1.4 Evidence source type

Most disease-level statements (inheritance, gene, canonical features, complications) are derived from aggregated disease resources and cohorts (e.g., consensus reclassification; multicenter cohorts) and complemented by case reports documenting phenotypic variability and resource-limited diagnostic pathways. (has2020consensusreclassificationof pages 1-2, guerreroaspizua2019assessmentofthe pages 1-2, ahmed2024battlingararity pages 4-5)

2. Etiology

2.1 Disease causal factors

Primary cause (genetic): autosomal recessive, bi-allelic FERMT1 pathogenic variants leading to loss or dysfunction of kindlin‑1. (laicheong2015kindlersyndrome pages 5-7, has2010mildclinicalphenotype pages 1-1, has2011kindlersyndromeextension pages 1-3)

Mechanistic cause: kindlin‑1 is a focal-adhesion/integrin-associated adaptor; deficiency impairs integrin activation and epithelial cell adhesion/migration, leading to mechanical fragility and abnormal dermal–epidermal junction integrity. (bhandary2024unusualoralmanifestation pages 1-2, dsouza2010kindlersyndromepathogenesis pages 1-3)

2.2 Risk factors

Genetic risk factors (causal variants): - Variant spectrum includes nonsense, frameshift, splice-site, missense, promoter changes, and large deletions; most are predicted to cause premature termination and kindlin‑1 loss. (klausegger2025anovelhomozygous pages 12-13, has2011kindlersyndromeextension pages 1-3) - A 2024 WES-based diagnostic example identified a novel frameshift variant c.567_579del (p.Ile190Serfs*10) interpreted using ACMG/AMP criteria (PVS1/PM2 cited in the report). (zhang2024identificationofa pages 2-3)

Non-genetic/clinical triggers that exacerbate symptoms: - Mechanical trauma (skin blistering with minor trauma) and sunlight/UV exposure (photosensitivity) are core disease triggers, consistent with a structural adhesion defect. (youssefian2022kindlersyndrome pages 1-1, ahmed2024battlingararity pages 4-5)

2.3 Protective factors

No specific genetic protective alleles were identified in the retrieved literature. Clinically, photoprotection and friction/trauma minimization are protective for lesion prevention, but these are management strategies rather than etiologic protective factors. (youssefian2022kindlersyndrome pages 1-1, laicheong2010kindlersyndrome. pages 3-5)

2.4 Gene–environment interactions

Evidence is largely clinical/phenomenological: UV exposure and chronic inflammation at high-friction sites appear to interact with kindlin‑1 deficiency to increase tissue injury and possibly malignancy risk; SCCs cluster at chronically inflamed sites (hands and perioral areas). (guerreroaspizua2019assessmentofthe pages 1-2, guerreroaspizua2019assessmentofthe pages 7-8)

3. Phenotypes (clinical spectrum)

3.1 Core cutaneous phenotype

Typical onset: infancy/early childhood with acral blistering. (youssefian2022kindlersyndrome pages 1-1, ahmed2024battlingararity pages 4-5)

Natural history: In a 59-patient KS natural history cohort, blistering occurred in 100% of patients younger than 10 years and decreased progressively with age. (has2011kindlersyndromeextension pages 5-6)

Key manifestations (suggested HPO terms): - Acral blistering / skin fragility — Skin blistering (HP:0000988) - Photosensitivity — (HP:0000992) - Poikiloderma — (HP:0001023) - Cutaneous atrophy — (HP:0008064) - Palmoplantar keratoderma/hyperkeratosis — (HP:0000982) - Nail dystrophy — (HP:0002164)

Frequency data in Chinese KS literature review: palmoplantar hyperkeratosis 91.70%, nail abnormalities 77.78%, finger/toe abnormalities 75.00%, eye abnormalities 57.14%, constipation 50.00%. (zhang2024identificationofa pages 2-3)

3.2 Mucosal/extracutaneous phenotypes

Common extracutaneous involvement includes oral, ocular, gastrointestinal and genitourinary manifestations.

Oral/periodontal (HPO suggestions): - Gingival bleeding/gingivitis/periodontitis — Gingivitis (HP:0000230), Periodontitis (HP:0000692) - Oral ulcers — (HP:0000155)

Mechanistic context from a 2024 oral-health-focused KS review: “These clinical manifestations arise from mutations in the FERMT-1 … that encodes kindlin-1, a protein localized to focal adhesions in keratinocytes… Kindlin-1 plays a crucial role in integrin receptor activation … essential for cell adhesion and migration.” (Sep 2024). (bhandary2024unusualoralmanifestation pages 1-2)

GI/GU stenoses (HPO suggestions): - Esophageal stenosis/dysphagia — (HP:0002043 / HP:0002015) - Anal stenosis/constipation — (HP:0002019) - Urethral stenosis — (HP:0008665)

These complications are repeatedly emphasized in clinical descriptions and management reviews. (youssefian2022kindlersyndrome pages 1-1, laicheong2015kindlersyndrome pages 5-7)

Ocular (HPO suggestions): - Ectropion — (HP:0000656)

3.3 Quality of life impact

Direct KS-specific QoL instruments were not identified in the retrieved corpus; however, KS is repeatedly described as requiring lifelong wound care, pain control, nutritional/dental support, and cancer surveillance, all of which plausibly impose substantial QoL burden. (ahmed2024battlingararity pages 4-5, laicheong2010kindlersyndrome. pages 3-5)

4. Genetic / Molecular Information

4.1 Causal gene

4.2 Pathogenic variant classes and functional consequences

4.3 Modifier genes / phenotype modifiers

Direct human genetic modifiers were not identified in the retrieved texts. However, inflammatory and profibrotic signaling is implicated in progression (cytokines and TGF‑β-related profibrotic pathways). (has2011kindlersyndromeextension pages 5-6)

4.4 Epigenetics and chromosomal abnormalities

No KS-specific epigenetic signatures or recurrent chromosomal abnormalities were identified in the retrieved evidence.

5. Environmental Information

5.1 Environmental and lifestyle factors

No exogenous toxicant/infectious cause is implicated; disease expression is worsened by UV exposure (photosensitivity) and mechanical friction/trauma (blistering). (youssefian2022kindlersyndrome pages 1-1, ahmed2024battlingararity pages 4-5)

5.2 Infectious agents

Infections are secondary complications of skin barrier breakdown (e.g., colonization of erosions and sepsis risk), rather than primary causes. (ahmed2024battlingararity pages 4-5)

6. Mechanism / Pathophysiology

6.1 Molecular and cellular mechanism (causal chain)

1) Bi-allelic FERMT1 loss-of-function → kindlin‑1 deficiency (has2011kindlersyndromeextension pages 1-3, has2010mildclinicalphenotype pages 1-1) 2) Defective integrin activation and focal adhesion function in keratinocytes (impaired adhesion/migration) (bhandary2024unusualoralmanifestation pages 1-2, dsouza2010kindlersyndromepathogenesis pages 1-3) 3) Basement membrane zone abnormalities and mechanical fragility with multi-plane cleavage (intra-basal keratinocyte, lamina lucida, below lamina densa) and lamina densa reduplication on EM (dsouza2010kindlersyndromepathogenesis pages 3-4, laicheong2010kindlersyndrome. pages 3-5) 4) Chronic injury → inflammation and profibrotic remodeling, contributing to mucocutaneous fibrosis/stenoses and cancer-prone chronically inflamed sites. (has2011kindlersyndromeextension pages 5-6, guerreroaspizua2019assessmentofthe pages 7-8)

6.2 Representative pathways (ontology suggestions)

  • Integrin-mediated signaling / focal adhesion: GO:0007229 (integrin-mediated signaling pathway), GO:0005925 (focal adhesion)
  • Cell adhesion and migration: GO:0007155 (cell adhesion), GO:0016477 (cell migration)
  • TGF‑β signaling / fibrosis (downstream): GO:0007179 (TGF‑β receptor signaling pathway)

6.3 Cell types and tissues involved (ontology suggestions)

6.4 Cancer mechanism insights (recent, 2024)

A 2024 mechanistic cSCC paper states in its abstract: “Kindler syndrome (KS) is a rare genodermatosis resulting from loss-of-function mutations in FERMT1 … KS patients have a high propensity to develop aggressive and metastatic cutaneous squamous cell carcinoma (cSCC).” It further reports that kindlin‑1 loss can promote SCC tumor growth in vivo with hypoxia, increased glycolysis, and MMP13 upregulation driving invasion. (Jul 2024). (carrasco2024involvementofkindlin1 pages 1-2)

7. Anatomical Structures Affected

7.1 Organ and system level

UBERON suggestions: - Skin (UBERON:0002097) - Oral mucosa (UBERON:0006956) - Esophagus (UBERON:0001043) - Colon (UBERON:0001155) - Urethra (UBERON:0000057)

8. Temporal Development (onset and course)

9. Inheritance and Population

9.1 Inheritance

Autosomal recessive. (laicheong2015kindlersyndrome pages 5-7, has2010mildclinicalphenotype pages 1-1)

9.2 Epidemiology (recent registry data prioritized)

Because KS/KEB is ultra-rare, most epidemiology comes from registries.

Romania (registry-based, 2012–2024; point prevalence as of 31 Dec 2023): - EB total: 152 cases; point prevalence 6.77 per million. - KEB: 3 cases (2%), point prevalence 0.16 per million, and incidence 0 per million live births in 2012–2022 interval. (Jun 2024). (suru2024epidemiologicalcharacteristicsof pages 10-12, suru2024epidemiologicalcharacteristicsof pages 1-2)

Russian Federation pediatric registry (as of 1 Jan 2024): - 491 children with EB registered; pediatric prevalence 15.48 per 1,000,000 children. - Kindler syndrome: 8 patients. (Oct 2024). (murashkin2024congenitalepidermolysisbullosa pages 1-2, murashkin2024congenitalepidermolysisbullosa pages 2-3)

10. Diagnostics

10.1 Clinical diagnosis

A key clinical constellation includes acral blistering in infancy/childhood, progressive poikiloderma, skin atrophy, photosensitivity, and gingival fragility; mucosal stenoses may occur. (ahmed2024battlingararity pages 4-5)

10.2 Skin biopsy, histopathology, TEM (electron microscopy)

Diagnostic clues include multi-plane cleavage at the dermal–epidermal junction and lamina densa reduplication on TEM; histopathology may show atrophy, loss of rete ridges, pigmentary incontinence, and melanophages. (laicheong2010kindlersyndrome. pages 3-5, dsouza2010kindlersyndromepathogenesis pages 3-4)

10.3 Immunofluorescence mapping / kindlin‑1 staining

Immunofluorescence mapping with anti–kindlin‑1 antibody can show reduced labeling, but labeling can be variable and can appear preserved in some mutation contexts; therefore molecular confirmation is recommended. (laicheong2010kindlersyndrome. pages 3-5, laicheong2015kindlersyndrome pages 5-7)

10.4 Genetic testing

10.5 Differential diagnosis

Neonatal/early-life presentation can overlap other EB types (EBS/DEB) and porphyria-like photosensitive disorders; a 2024 KS case report notes initial differential included porphyria cutanea tarda in a pediatric case due to overlapping photosensitivity/fragility. (laicheong2010kindlersyndrome. pages 3-5, ahmed2024battlingararity pages 4-5)

11. Outcome / Prognosis

11.1 Life expectancy

Some reports state generally normal life expectancy but emphasize substantial morbidity and the importance of surveillance for malignancy and strictures. (ahmed2024battlingararity pages 4-5)

11.2 Cancer outcomes (high-impact prognosis determinant)

The largest retrieved KS SCC cohort (91 adults) quantified SCC severity and outcomes: - SCC in 13/91 (14.3%), youngest case 29 years, cumulative SCC risk 66.7% in those >60 years. - Metastatic disease in 53.8% of SCC-bearing patients (7/13). - Death from tumor in 38.5% (5/13) within 2–7 years (mean survival 40.8 months). (Jul 2019). (guerreroaspizua2019assessmentofthe pages 1-2)

12. Treatment

12.1 Standard of care (supportive / multidisciplinary)

No disease-modifying therapy is established; management is largely symptomatic.

Skin care & wound care (MAXO suggestions): - Nonadherent dressings, infection prevention, debridement as needed, and pain control are emphasized in case-based guidance; one report lists dressings (foams, hydrogel sheets, alginates, etc.) and analgesics including acetaminophen and opioids. (MAXO:0000015 Wound care; MAXO:0000046 Pain management) (ahmed2024battlingararity pages 4-5)

Photoprotection: broad-spectrum sunscreen and UV avoidance are recommended. (MAXO:0000075 Photoprotection) (youssefian2022kindlersyndrome pages 1-1)

Oral/dental care: regular dental care to manage gingivitis/periodontitis. (MAXO: Dental care) (laicheong2010kindlersyndrome. pages 3-5)

Management of stenoses and complications: esophageal dilatation for dysphagia; interventions for urethral strictures; nutrition support when needed. (laicheong2010kindlersyndrome. pages 3-5, laicheong2015kindlersyndrome pages 5-7)

Cancer surveillance: annual follow-up for premalignant keratoses and early malignancy. (youssefian2022kindlersyndrome pages 1-1, laicheong2015kindlersyndrome pages 5-7)

12.2 Experimental / clinical trials relevant to KEB

Oleogel‑S10 (birch bark extract; Episalvan/Filsuvez) for EB wound healing - A completed Phase III trial explicitly included Kindler EB among eligible EB subtypes and enrolled 223 participants (49 sites, 26 countries). Primary endpoint: first complete closure of a target wound within 45 days. ClinicalTrials.gov results were first submitted in 2023. NCT03068780. (NCT03068780 chunk 1)

Cannabinol cream for EB (not Kindler-specific): a completed Phase 2 EB trial exists (NCT04908215), but Kindler inclusion is not established in the extracted text; therefore it is not interpreted here as KEB-targeted evidence. (No KEB-specific evidence in provided excerpt.)

13. Prevention

13.1 Primary/secondary/tertiary prevention

14. Other Species / Natural Disease

No naturally occurring non-human Kindler syndrome analogs were identified in the retrieved evidence.

15. Model Organisms

15.1 Mouse models (Fermt1/Kindlin‑1 knockout)

A Fermt1 (Kindlin‑1) knockout mouse model provides strong mechanistic evidence linking kindlin‑1 deficiency to epithelial barrier failure: - The PLoS Genetics study states in its abstract: “deleting Kindlin-1 in mice gives rise to skin atrophy and an intestinal epithelial dysfunction with similarities to human UC.” (Dec 2008). (ussar2008lossofkindlin1 pages 1-2) - Homozygous knockout pups die between P3–P5 due to intestinal epithelial detachment and destructive inflammation, attributed to defective integrin activation and loss of epithelial adhesion. (ussar2008lossofkindlin1 pages 2-3)

A review of EB animal models reports that Fermt1 knockout mice showed skin atrophy but did not show a classic blistering phenotype in that account, underscoring partial recapitulation and model limitations. (natsuga2010animalmodelsof pages 2-4)

Recent developments (2023–2024 highlights)

1) Epidemiology updates from national registries: Romania (KEB prevalence 0.16/million; 3 KEB cases) and Russia (8 pediatric Kindler cases) provide contemporary, registry-derived denominators useful for health-system planning. (suru2024epidemiologicalcharacteristicsof pages 10-12, murashkin2024congenitalepidermolysisbullosa pages 2-3) 2) Mechanistic cancer biology advances: 2024 work links kindlin‑1 loss to hypoxic, glycolytic tumor environments and MMP13-driven invasion in SCC models, addressing why KS-associated SCC can be particularly aggressive. (carrasco2024involvementofkindlin1 pages 1-2) 3) Clinical phenotyping refinement: 2024 Chinese KS review provides updated phenotype frequencies (e.g., palmoplantar hyperkeratosis 91.70%; oral involvement 70%). (zhang2024identificationofa pages 2-3)

Limitations of this report (tooling / evidence availability)

  • Orphanet ORPHA, ICD‑10/ICD‑11, MeSH, and MONDO identifiers were not retrievable using the current tools because direct ontology/database lookup services are not available in the toolset; only OMIM disease number could be extracted from accessible full text. (has2010mildclinicalphenotype pages 1-1)
  • Many KS publications are case reports; for several sections (epigenetics, specific modifier genes, KS-specific QoL instruments) the retrieved literature did not provide high-confidence, quantitative evidence.

Key URLs (most used sources)

References

  1. (has2010mildclinicalphenotype pages 1-1): C. Has, Bettina Burger, A. Volz, J. Kohlhase, Leena Bruckner-Tuderman, and P. Itin. Mild clinical phenotype of kindler syndrome associated with late diagnosis and skin cancer. Dermatology, 221:309-312, Oct 2010. URL: https://doi.org/10.1159/000320235, doi:10.1159/000320235. This article has 31 citations and is from a peer-reviewed journal.

  2. (youssefian2022kindlersyndrome pages 1-1): L Youssefian, H Vahidnezhad, and J Uitto. Kindler syndrome. Indian Pediatrics, 55:85, 2022. URL: https://doi.org/10.1007/s13312-018-1239-y, doi:10.1007/s13312-018-1239-y. This article has 66 citations and is from a peer-reviewed journal.

  3. (bhandary2024unusualoralmanifestation pages 1-2): Rahul Bhandary, Geethu Venugopalan, and Padmaraj Hegde. Unusual oral manifestation of kindler syndrome: a case report and review of literature. Frontiers in Oral Health, Sep 2024. URL: https://doi.org/10.3389/froh.2024.1430698, doi:10.3389/froh.2024.1430698. This article has 2 citations and is from a peer-reviewed journal.

  4. (klausegger2025anovelhomozygous pages 12-13): Alfred Klausegger, Fabian Leditzky, Susanne Krämer, Francis Palisson, María Joao Yubero, Sebastián Véliz, Mark Jean Aan Koh, Ene-Choo Tan, Martin Laimer, Johann Wolfgang Bauer, and Ignacia Fuentes. A novel homozygous 9385 bp deletion in the fermt1 (kind1) gene in a malaysian family with kindler epidermolysis bullosa and a review of large deletions. International Journal of Molecular Sciences, 26:4237, Apr 2025. URL: https://doi.org/10.3390/ijms26094237, doi:10.3390/ijms26094237. This article has 0 citations.

  5. (laicheong2015kindlersyndrome pages 5-7): Joey E. Lai-Cheong and John A. McGrath. Kindler syndrome. Blistering Diseases, pages 433-439, Jan 2015. URL: https://doi.org/10.1007/978-3-662-45698-9_43, doi:10.1007/978-3-662-45698-9_43. This article has 2 citations.

  6. (has2011kindlersyndromeextension pages 1-3): Cristina Has, Daniele Castiglia, Marcela del Rio, Marta Garcia Diez, Eugenia Piccinni, Dimitra Kiritsi, Jürgen Kohlhase, Peter Itin, Ludovic Martin, Judith Fischer, Giovanna Zambruno, and Leena Bruckner-Tuderman. Kindler syndrome: extension of fermt1 mutational spectrum and natural history. Human Mutation, 32:1204-1212, Nov 2011. URL: https://doi.org/10.1002/humu.21576, doi:10.1002/humu.21576. This article has 167 citations and is from a domain leading peer-reviewed journal.

  7. (dsouza2010kindlersyndromepathogenesis pages 1-3): Maria-Anna M.A. D'Souza, Roy M. Kimble, and James R. McMillan. Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. Dermatologic clinics, 28 1:115-8, Jan 2010. URL: https://doi.org/10.1016/j.det.2009.10.012, doi:10.1016/j.det.2009.10.012. This article has 40 citations and is from a peer-reviewed journal.

  8. (has2020consensusreclassificationof pages 1-2): C. Has, J.W. Bauer, C. Bodemer, M.C. Bolling, L. Bruckner‐Tuderman, A. Diem, J.‐D. Fine, A. Heagerty, A. Hovnanian, M.P. Marinkovich, A.E. Martinez, J.A. McGrath, C. Moss, D.F. Murrell, F. Palisson, A. Schwieger‐Briel, E. Sprecher, K. Tamai, J. Uitto, D.T. Woodley, G. Zambruno, and J.E. Mellerio. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. British Journal of Dermatology, 183:614-627, Mar 2020. URL: https://doi.org/10.1111/bjd.18921, doi:10.1111/bjd.18921. This article has 908 citations and is from a highest quality peer-reviewed journal.

  9. (ahmed2024battlingararity pages 4-5): Alina Ahmed, Tasheen Zehra, Alina Moin, and Shajie Ur Rehman Usmani. Battling a rarity: a case of kindler syndrome from a developing country. SAGE Open Medical Case Reports, Jan 2024. URL: https://doi.org/10.1177/2050313x241231518, doi:10.1177/2050313x241231518. This article has 8 citations and is from a peer-reviewed journal.

  10. (laicheong2010kindlersyndrome. pages 3-5): Joey E. Lai-Cheong and John A. McGrath. Kindler syndrome. Dermatologic clinics, 28 1:119-24, Jan 2010. URL: https://doi.org/10.1016/j.det.2009.10.013, doi:10.1016/j.det.2009.10.013. This article has 111 citations and is from a peer-reviewed journal.

  11. (has2011kindlersyndromeextension pages 5-6): Cristina Has, Daniele Castiglia, Marcela del Rio, Marta Garcia Diez, Eugenia Piccinni, Dimitra Kiritsi, Jürgen Kohlhase, Peter Itin, Ludovic Martin, Judith Fischer, Giovanna Zambruno, and Leena Bruckner-Tuderman. Kindler syndrome: extension of fermt1 mutational spectrum and natural history. Human Mutation, 32:1204-1212, Nov 2011. URL: https://doi.org/10.1002/humu.21576, doi:10.1002/humu.21576. This article has 167 citations and is from a domain leading peer-reviewed journal.

  12. (guerreroaspizua2019assessmentofthe pages 1-2): Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has, and Marcela Del Rio. Assessment of the risk and characterization of non-melanoma skin cancer in kindler syndrome: study of a series of 91 patients. Orphanet Journal of Rare Diseases, Jul 2019. URL: https://doi.org/10.1186/s13023-019-1158-6, doi:10.1186/s13023-019-1158-6. This article has 37 citations and is from a peer-reviewed journal.

  13. (guerreroaspizua2019assessmentofthe pages 2-4): Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has, and Marcela Del Rio. Assessment of the risk and characterization of non-melanoma skin cancer in kindler syndrome: study of a series of 91 patients. Orphanet Journal of Rare Diseases, Jul 2019. URL: https://doi.org/10.1186/s13023-019-1158-6, doi:10.1186/s13023-019-1158-6. This article has 37 citations and is from a peer-reviewed journal.

  14. (zhang2024identificationofa pages 2-3): Qiang Zhang, Qi Yang, Fei Shen, Linlin Wang, and Jingsi Luo. Identification of a novel fermt1 variant causing kindler syndrome and a review of the clinical and molecular genetic features in chinese patients. Frontiers in Pediatrics, Sep 2024. URL: https://doi.org/10.3389/fped.2024.1425030, doi:10.3389/fped.2024.1425030. This article has 3 citations.

  15. (dsouza2010kindlersyndromepathogenesis pages 3-4): Maria-Anna M.A. D'Souza, Roy M. Kimble, and James R. McMillan. Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. Dermatologic clinics, 28 1:115-8, Jan 2010. URL: https://doi.org/10.1016/j.det.2009.10.012, doi:10.1016/j.det.2009.10.012. This article has 40 citations and is from a peer-reviewed journal.

  16. (guerreroaspizua2019assessmentofthe pages 7-8): Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has, and Marcela Del Rio. Assessment of the risk and characterization of non-melanoma skin cancer in kindler syndrome: study of a series of 91 patients. Orphanet Journal of Rare Diseases, Jul 2019. URL: https://doi.org/10.1186/s13023-019-1158-6, doi:10.1186/s13023-019-1158-6. This article has 37 citations and is from a peer-reviewed journal.

  17. (klausegger2025anovelhomozygous pages 1-2): Alfred Klausegger, Fabian Leditzky, Susanne Krämer, Francis Palisson, María Joao Yubero, Sebastián Véliz, Mark Jean Aan Koh, Ene-Choo Tan, Martin Laimer, Johann Wolfgang Bauer, and Ignacia Fuentes. A novel homozygous 9385 bp deletion in the fermt1 (kind1) gene in a malaysian family with kindler epidermolysis bullosa and a review of large deletions. International Journal of Molecular Sciences, 26:4237, Apr 2025. URL: https://doi.org/10.3390/ijms26094237, doi:10.3390/ijms26094237. This article has 0 citations.

  18. (carrasco2024involvementofkindlin1 pages 1-2): Giovana Carrasco, Ifigeneia Stavrou, Mairi Treanor-Taylor, Henry Beetham, Martin Lee, Roza Masalmeh, Artur Carreras-Soldevila, David Hardman, Miguel O. Bernabeu, Alex von Kriegsheim, Gareth J. Inman, Adam Byron, and Valerie G. Brunton. Involvement of kindlin-1 in cutaneous squamous cell carcinoma. Oncogenesis, Jul 2024. URL: https://doi.org/10.1038/s41389-024-00526-1, doi:10.1038/s41389-024-00526-1. This article has 3 citations and is from a domain leading peer-reviewed journal.

  19. (suru2024epidemiologicalcharacteristicsof pages 10-12): Alina Suru, Sorina Dănescu, Alina Călinescu-Stîncanu, Denis Iorga, Mihai Dascălu, Adrian Baican, George-Sorin Țiplica, and Carmen Maria Sălăvăstru. Epidemiological characteristics of inherited epidermolysis bullosa in an eastern european population. Journal of Clinical Medicine, 13:3742, Jun 2024. URL: https://doi.org/10.3390/jcm13133742, doi:10.3390/jcm13133742. This article has 6 citations.

  20. (suru2024epidemiologicalcharacteristicsof pages 1-2): Alina Suru, Sorina Dănescu, Alina Călinescu-Stîncanu, Denis Iorga, Mihai Dascălu, Adrian Baican, George-Sorin Țiplica, and Carmen Maria Sălăvăstru. Epidemiological characteristics of inherited epidermolysis bullosa in an eastern european population. Journal of Clinical Medicine, 13:3742, Jun 2024. URL: https://doi.org/10.3390/jcm13133742, doi:10.3390/jcm13133742. This article has 6 citations.

  21. (murashkin2024congenitalepidermolysisbullosa pages 1-2): Nikolay N. Murashkin, Roman V. Epishev, Olga S. Orlova, Alena А. Kuratova, and Victoriya S. Polenova. Congenital epidermolysis bullosa epidemiology among children of russian federation. Current Pediatrics, 23:316-328, Oct 2024. URL: https://doi.org/10.15690/vsp.v23i5.2808, doi:10.15690/vsp.v23i5.2808. This article has 2 citations.

  22. (murashkin2024congenitalepidermolysisbullosa pages 2-3): Nikolay N. Murashkin, Roman V. Epishev, Olga S. Orlova, Alena А. Kuratova, and Victoriya S. Polenova. Congenital epidermolysis bullosa epidemiology among children of russian federation. Current Pediatrics, 23:316-328, Oct 2024. URL: https://doi.org/10.15690/vsp.v23i5.2808, doi:10.15690/vsp.v23i5.2808. This article has 2 citations.

  23. (NCT03068780 chunk 1): Phase III Efficacy and Safety Study of Oleogel-S10 in Epidermolysis Bullosa. Amryt Research Limited. 2017. ClinicalTrials.gov Identifier: NCT03068780

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