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.
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.
4350 citations
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May 2012 in “Arthritis & Rheumatism” This study found that the new SLICC classification criteria for systemic lupus erythematosus were more sensitive and resulted in fewer misclassifications than the current ACR criteria, although they had lower specificity.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
14 citations
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January 2001 in “Current Treatment Options in Oncology” Treat limited stage small cell lung cancer with chemotherapy and radiation, and consider preventive brain radiation for better survival chances.
1 citations
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January 2024 in “Clinical Cosmetic and Investigational Dermatology” This case report discusses a 58-year-old female diagnosed with oral lichen sclerosus, an extremely rare form of the disorder, which improved following treatment with topical and intralesional corticosteroids, highlighting the importance of recognizing this rare condition in the oral mucosa.
January 2017 in “Springer eBooks” This article reviews the classification, pathogenesis, and treatment options for cutaneous lupus erythematosus and reports no new clinical findings.
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.
3 citations
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September 2015 in “Journal of Vascular Surgery” This study found that chemical lumbar sympathectomy with 5% phenol effectively treated idiopathic livedo reticularis in most patients, offering a potential long-lasting solution with repeatable efficacy upon recurrence.
November 2025 in “Indian Dermatology Online Journal” This case report describes a patient with Clouston syndrome who developed squamous cell carcinoma, highlighting the need for regular follow-up in patients with chronic paronychia that do not respond to conventional treatments.
September 2021 in “Journal of the American Academy of Dermatology” This study found that reported stress and hair growth changes related to facial/body hair excess or scalp hair loss differ among ethnic gender minority groups, with black and other ethnic respondents experiencing more stress compared to Caucasians, particularly in relation to facial/body hair excess.
November 2021 in “Chattagram Maa-O-Shishu Hospital Medical College Journal” This descriptive study reported that Chronic Cutaneous Lupus Erythematosus was the most prevalent subtype, highlighting distinct clinical and pathological features among Cutaneous Lupus Erythematosus subtypes.
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.
4 citations
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January 2020 in “Indian dermatology online journal” This report describes two scalp lichen simplex chronicus cases with hair loss and intense itching, noting unique dermoscopic and histopathological features.
27 citations
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February 2009 in “Autoimmunity Reviews” This study describes the development of the EUSCLE Core Set Questionnaire for cutaneous lupus erythematosus, designed to standardize data collection, facilitate epidemiological analysis, and guide diagnostic and therapeutic strategies across European centers.
146 citations
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May 2002 in “The American journal of pathology” This study found that cathepsin L deficiency in mice led to significant abnormalities in hair follicle development and cycling, including disrupted hair shaft outgrowth and premature hair growth phase entry.
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.
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.
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.
July 2024 in “Journal of Investigative Dermatology” Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
7 citations
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April 2021 in “Journal of Lower Genital Tract Disease” This study concluded that erosive lichen sclerosus is a distinct subtype marked by red patches on hairless skin, while ulcerated lichen sclerosus typically results from trauma in uncontrolled dermatosis.
October 2017 in “The American Journal of Gastroenterology” This case report details a 71-year-old man diagnosed with Cronkhite-Canada Syndrome, highlighting the importance of early diagnosis and endoscopic evaluation due to the disease's progressive nature and significant mortality risk.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” This case study describes a rare instance of subacute cutaneous lupus erythematosus on the chin, highlighting the effectiveness of using dermoscopy and reflectance confocal microscopy for accurate diagnosis and monitoring, which led to significant lesion improvement with corticosteroid and immunomodulatory treatment over 19 weeks.
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.
July 2026 in “Clinical Cosmetic and Investigational Dermatology” In this case report, a 9-year-old boy with Sjogren-Larsson syndrome was also diagnosed with central precocious puberty, showing genetic mutations and increased hormone levels; he was treated with triptorelin acetate for CPP but experienced growth delay during follow-up.
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.
25 citations
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October 2007 in “Developmental biology” In this study, transgenic mice altered to express a Clim-inhibiting molecule under a keratin promoter showed corneal degradation and hair follicle failure, highlighting Clim proteins' role in maintaining these tissues.
2 citations
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January 2022 in “Indian dermatology online journal” This case report details the dermoscopic features of bilateral cutaneous larva migrans in an adult male, noting similarities with lymphangioma circumscriptum but highlights that typical dermoscopy magnification may be insufficient for diagnosis.
23 citations
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February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.