December 2025 in “Frontiers in Medicine” This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
This study presents a rare instance of Netherton syndrome diagnosed incidentally in siblings of consanguineous parents, initially misdiagnosed as other skin conditions, emphasizing the need for careful evaluation in chronic skin cases to prevent misdiagnosis.
November 2023 in “Вопросы современной педиатрии” This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.
January 2023 in “Czech Journal of Animal Science” This study found that down and guard hairs of Inner Mongolia Cashmere Goats have distinct protein compositions and physical properties, with keratin-related proteins potentially influencing these differences.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
January 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified non-structural proteins in preschool children's scalp hair that suggest potential biomarkers for brain development, immune function, and stress response with heritability and age-related differences.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
October 2020 in “Veterinary Dermatology” This review discusses autoimmune blistering diseases across species and highlights new treatment efficacy findings and ongoing trials, but it reports no new clinical results.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” This source reports findings from a case study detailing hair loss in two female patients, published in the JDDG: Journal der Deutschen Dermatologischen Gesellschaft, emphasizing that specific diagnostic outcomes or treatment results are not included in the summary.
May 2015 in “Journal of Dermatological Science” Researchers found a new area on chromosome 2 linked to a genetic hair loss condition.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
64 citations
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October 2018 in “Thérapie” This report describes the enhancement of the French SNIIRAM/SNDS healthcare database through external data linkages, highlighting its potential use in medical research despite complexities in the integration process.
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.
December 2025 in “JGH Open” In this case study, a 78-year-old Japanese woman with Cronkhite-Canada syndrome experienced mesenteric lymphadenopathy, which reduced in size after treatment with the corticosteroid prednisolone. This suggests that mesenteric lymphadenopathy, though uncommon in CCS, may respond to steroid therapy.
July 2023 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, researchers analyzed skin tumors from patients with CYLD cutaneous syndrome and found that loss of CYLD function is linked to changes in cellular signaling pathways, particularly NF-κB signaling, and leads to increased secretion of specific extracellular matrix proteins.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
December 2024 in “Clinical and Experimental Dermatology” This study found that patients with central centrifugal cicatricial alopecia preferred shared decision-making with their doctors regarding treatment management.
13 citations
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June 2010 in “Journal of The American Academy of Dermatology” This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.
6 citations
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December 2015 in “Medicine” This review discusses Cronkhite-Canada syndrome, highlighting a relatively mild case and suggesting that it may be a more benign and possibly reversible condition with treatment, but reports no new clinical results.
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.
December 2019 in “The American Journal of Gastroenterology” In this study, three cases of Cronkhite-Canada syndrome revealed small bowel mucosal lesions, but these findings did not correlate with clinical symptoms or steroid treatment outcomes.
8 citations
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January 2023 in “RSC Advances” This article reviews advancements in carbon dots for tissue engineering and regenerative medicine, highlighting challenges and future directions without presenting new clinical findings.
July 2024 in “Journal of Investigative Dermatology” A new test helps find drugs to treat head and neck cancer by targeting c-Rel.
9 citations
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February 2023 in “Medicine” This review discusses the potential of traditional Chinese medicine to relieve clinical symptoms in cases of CCS and emphasizes the need for further large-scale, long-term studies to verify these effects.
3 citations
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January 2011 in “Intestinal Research” This article reports on a patient case of Cronkhite-Canada syndrome, detailing symptoms and diagnostic findings, and reviews the syndrome's characteristics without presenting new clinical data.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
December 2022 in “Gastroenterology” This report describes a case of Cronkhite-Canada syndrome diagnosed in a 54-year-old man with symptoms including gastrointestinal polyps, alopecia, skin hyperpigmentation, and severe diarrhea, who experienced significant symptom improvement with azathioprine.
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.
14 citations
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May 2019 in “Human gene therapy” This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.
August 2019 in “International journal of dermatology and venereology” This review discusses the calcineurin/NFAT pathway's role in cutaneous squamous cell carcinoma, noting its involvement in tumor development, skin cell behavior, and the tumor microenvironment; it reports no new results.