March 2024 in “Indian Journal of Dermatology” In this case report, a 42-year-old male diagnosed with Cronkhite-Canada syndrome presented symptoms like chronic diarrhea, significant weight loss, skin hyperpigmentation, alopecia, and nail dystrophy, with endoscopic findings revealing numerous gastrointestinal polyps.
3 citations
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February 2022 in “Journal of the American Academy of Dermatology” This article highlights a lack of published data on vitamin D deficiency prevalence among individuals with central centrifugal cicatricial alopecia, despite its known link to other forms of hair loss.
September 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a germline variant in PLCD1 as a major risk allele for familial trichilemmal cysts, requiring a subsequent somatic mutation in the same allele for cyst formation.
99 citations
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March 2013 in “Journal of Investigative Dermatology” This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.
2 citations
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May 2020 in “Journal of the American Academy of Dermatology” Hair shaft changes may be linked to CCCA, but their role is unclear.
September 2007 in “The American Journal of Gastroenterology” This case report describes a 37-year-old Filipino man with Cronkhite-Canada syndrome who improved after receiving nutritional support and medical treatment, despite the typically poor prognosis of the condition.
August 2023 in “Gastroenterology” This study describes the diagnosis and successful management of Cronkhite-Canada syndrome in a 78-year-old man, highlighting improvement in symptoms and endoscopic findings after treatment with prednisone and supportive therapies.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
November 2025 in “Journal of Investigative Dermatology” This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
6 citations
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July 2021 in “Frontiers in Genetics” This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.
In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.
23 citations
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August 1983 in “PubMed” This case report details a 17-year-old girl with systemic lupus erythematosus and recurrent infections linked to a complete isolated Clq deficiency.
1 citations
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April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
11 citations
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January 2022 in “Experimental Dermatology” This study suggests that patients with severe, extensive central centrifugal cicatricial alopecia may exhibit a distinct gene expression pattern in the lesional scalp, highlighting potential targets for future research on disease severity and therapies.
1 citations
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January 2020 in “Journal of Crohn's and colitis” In this case series, researchers observed that patients with inflammatory bowel disease often experienced vitamin C deficiency, which was linked to symptoms of scurvy, highlighting the need for dietary counseling.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
This study suggests that individuals with severe sickle cell disease, indicated by higher hemoglobin S and ferritin levels, may have lower cortisol levels as shown by reduced hair cortisol content.
February 2024 in “International journal of medical science and clinical research studies” This article reviews the clinical features, pathogenesis, and treatment strategies for Central Centrifugal Cicatricial Alopecia, emphasizing the need for enhanced understanding and early diagnosis, but reports no new research findings.
30 citations
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July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
12 citations
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October 2001 in “British Journal of Ophthalmology” This paper suggests intralesional cidofovir as a potentially effective treatment for SCC with no systemic toxicity observed, but surgical excision remains the standard for its curative outcomes and thorough evaluation.
5 citations
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March 2013 in “International journal of surgical pathology” This case report illustrates that a diagnosis of Cronkhite-Canada syndrome can be made without the presence of polyps, as demonstrated by resolving symptoms with steroid treatment.
7 citations
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March 2023 in “European Journal of Dermatology” Using Selenium Disulfide shampoo weekly helps prevent scalp dermatitis flare-ups.
September 2021 in “CRC Press eBooks” This article discusses features, genetics, and diagnostic challenges of central centrifugal cicatricial alopecia in African American women but reports no new clinical results.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.
3 citations
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April 2022 in “Cutis” This article reviews central centrifugal cicatricial alopecia, particularly in women of African descent, and explains its progression and symptoms but provides no new clinical findings.
August 2026 in “British Journal of Dermatology” sCD83 shows promise for treating hair loss by promoting growth and reducing inflammation.
2 citations
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July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
1 citations
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June 2015 in “Australasian Journal of Dermatology” This case report describes a patient with Cronkhite–Canada syndrome, where immunosuppression and nutritional support led to disease remission.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” This case report describes a 6.5-year-old girl with a balanced chromosome translocation involving chromosomes 1 and 6, linked to developmental speech delay and features suggestive of ectodermal dysplasia.