87 citations
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December 2015 in “Cochrane library” This review observed limited evidence of clinically significant benefits from treatments for acute central serous chorioretinopathy, which often resolves spontaneously, but identified PDT and micropulse laser as the most promising for further trials.
September 2022 in “Indian Journal of Paediatric Dermatology” This case report documents the first confirmed mutation-proved instance of Clouston syndrome in a large Chinese-Malaysian family, linked to the c.263C>T (A88V) mutation in the GJB6 gene, with no available treatment but highlighting the importance of genetic counseling.
1 citations
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February 2014 in “Italian journal of medicine” This case study describes the clinical presentation and diagnostic findings of an 80-year-old woman with Cronkhite-Canada syndrome.
November 2023 in “npj regenerative medicine” This study found that engineered reconstituted skin can form morphogenetic units that promote tissue patterning and hair regeneration, with certain signaling pathways restoring this ability in adult and fetal cells.
19 citations
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August 2020 in “Gastroenterology report” This review discusses the characteristics and challenges in treating Cronkhite–Canada syndrome but reports no new clinical findings, emphasizing the need for better understanding and uniform treatment approaches.
179 citations
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June 2000 in “The American journal of pathology” This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.
October 2025 in “Cell Death and Disease” In this study, researchers developed two novel mouse models to investigate how CD271 deletion in keratinocytes affects skin homeostasis, finding that it leads to changes resembling dysplastic skin conditions with immune cell recruitment and inflammatory cytokine release.
109 citations
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November 2011 in “Nature Neuroscience” 30 citations
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January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
17 citations
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May 2016 in “Archives of Dermatological Research” This study identified specific reflectance confocal microscopy features that help differentiate scarring from non-scarring alopecia, providing a non-invasive diagnostic tool.
1 citations
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March 2022 in “Frontiers in Medicine” This case report highlights a rare instance of esophageal carcinoma in a patient with Cronkhite-Canada syndrome, emphasizing the importance of endoscopic surveillance for malignant gastrointestinal tumors in these patients.
This case study reports that early genetic testing and targeted therapies, such as secukinumab, can significantly improve skin barrier function in patients with Netherton syndrome, despite persistent symptoms.
May 2012 in “F1000Research” This research consisted of a Phase I/II study on androgenetic alopecia where male participants received intradermal injections of HSC, with hair growth efficacy assessed through Trichoscan imaging, although no new clinical results are reported.
November 2020 in “Zenodo (CERN European Organization for Nuclear Research)”
April 2023 in “Journal of Investigative Dermatology” This research reexamined transcriptomic data to study stem and progenitor cell proliferation in psoriasis, finding that the number of committed progenitor cells increased eight-fold in psoriatic skin without altering stem cell numbers, potentially identifying new therapeutic targets.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
In this study, a pH-responsive microneedle patch was developed, showing potential in rat models for treating spinal cord injuries by reducing inflammation, promoting nerve regeneration, and supporting neurogenesis, which contributed to improved motor and neurological recovery.
21 citations
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October 2013 in “Molecular Biology of the Cell” This study found that the protein CCN2 in dermal papilla cells is a physiologically relevant suppressor of hair follicle formation by destabilizing β-catenin, which may help maintain stem cell quiescence.
11 citations
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February 2019 in “Stem cells international” In this study, researchers found that while both hair follicles and skin dermis-derived neural crest stem cells are suitable for large-scale manufacturing, skin dermis cells grow faster and are easier to obtain.
January 2024 in “Skin Appendage Disorders” This source reports that SET may offer notable cosmetic improvements and enhance well-being for patients with CA, serving as a cost-effective treatment option either alone or alongside hair transplantation.
33 citations
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October 2013 in “PloS one” This study found that human sweat glands contain unique stem cells with significant multilineage differentiation potential and self-renewal abilities, suggesting promising clinical applications due to easy biopsy access.
11 citations
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January 2009 in “World Journal of Gastroenterology” This study reports the first documented case of Cronkhite-Canada syndrome in a patient with myelodysplastic syndrome, where corticosteroids dramatically improved the patient's condition.
October 2024 in “Medicine” In this case report, a 72-year-old female with Cronkhite-Canada syndrome showed significant improvement in symptoms and gastrointestinal polyps after hormone therapy and additional treatment.
June 1996 in “Journal of Dermatological Science” 2 citations
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September 2017 in “Journal of Investigative Dermatology” This study found that notch1 signaling is severely impaired in hidradenitis suppurativa patients with or without NCSTN or other gamma-secretase gene mutations, highlighting a canonical defect at the lesional tissue level.
February 2026 in “Frontiers in Medicine” This study reported that trichoscopy can identify specific hair shaft abnormalities linked to increased serological activity, highlighting its use as a valuable non-invasive diagnostic tool in pediatric dermatology for neonates with ECS.
April 2020 in “Journal of animal research” In this study, researchers identified hair follicle stem cells in the bulge region of canine hair follicles, suggesting potential applications for future translational research.
July 2024 in “Dermatology Practical & Conceptual” This article discusses the diagnostic challenges between certain neonatal scalp conditions and highlights the potential of line-field confocal optical coherence tomography to provide detailed, non-invasive skin examination, without presenting new clinical findings.
November 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” This study highlighted the significance of integrating single-cell RNA sequencing with spatial transcriptomics for improving cell-type identification in human skin, emphasizing the need for a comprehensive cell atlas.
8 citations
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April 2017 in “American Journal of Dermatopathology” In this study, nail matrix pathology in a patient with Cronkhite–Canada Syndrome revealed matrix hypergranulosis, suggesting that an inflammatory process may play a key role in the condition's pathogenesis.