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.
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.
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.
6 citations
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May 2020 in “British Journal of Dermatology” This abstract discusses Lichen Sclerosus, a chronic skin condition affecting the genitals, highlighting its symptoms, complications, and impact on quality of life, but reports no new clinical findings.
April 2023 in “Journal of Investigative Dermatology” In this systematic review, researchers found that individuals with lichen sclerosus have a higher prevalence of comorbidities like vitiligo, alopecia areata, and cardiovascular diseases compared to non-affected controls, and suggest screening all LS patients for cardiovascular risk factors and other diseases.
October 2025 in “Clinical and Experimental Pediatrics” In this case report and literature review, researchers identified a novel mutation in the CLDN1 gene linked to neonatal ichthyosis-sclerosing cholangitis syndrome and found that its phenotype varies widely, suggesting a multidisciplinary approach is crucial for management.
1 citations
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January 2023 in “Journal of Drugs in Dermatology” This review discusses Graham-Little Piccardi-Lasseur syndrome, a rare dermatosis with limited treatment options, emphasizing the importance of early diagnosis through physical exam and dermoscopy, but reports no new results.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
44 citations
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November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.
November 2020 in “Acta Medica Bulgarica/Acta medica Bulgarica” This case report details two patients with Graham-Little-Piccardi-Lassueur syndrome who showed marked skin lesion improvement with corticosteroid treatment, though cicatricial scalp alopecia remained unresponsive.
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.
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.
1 citations
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November 2021 in “Advances in Dermatology and Allergology” This study described the clinical and pathologic characteristics of patients with cutaneous lupus erythematosus, noting that chronic cutaneous lupus was most common, with photosensitivity as a prevalent symptom.
May 2025 in “The Journal of Rheumatology” This report describes two cases where female patients with chronic granulomatous disease developed manifestations of systemic lupus erythematosus, highlighting a rare association that may influence clinical evaluation and treatment planning.
56 citations
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October 2007 in “Journal of Biological Chemistry” This study concluded that dilated cardiomyopathy in Ctsl-deficient mice is mainly due to the lack of cathepsin L in cardiomyocytes, with additional heart stress from the fur defect.
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.
2 citations
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January 2014 in “The Korean journal of medicine” This review covers the development and validation of classification criteria for systemic lupus erythematosus, detailing the changes from the 1982 ACR criteria to the 2012 SLICC criteria, and reports no new results.
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.
July 2024 in “Journal of Investigative Dermatology” Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
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 2020 in “Research Square (Research Square)” This study found that 7.80% of Chinese patients with systemic lupus erythematosus experienced scarring alopecia, with certain disease characteristics and treatments influencing its prevalence.
January 2017 in “Springer eBooks” This article reviews the classification, pathogenesis, and treatment options for cutaneous lupus erythematosus and reports no new clinical findings.
1 citations
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January 2021 in “Arthritis Research & Therapy” The study reported a 7.80% prevalence of scarring alopecia in Chinese SLE patients and identified several risk factors, including mucocutaneous lesions and high disease activity, while renal and cardio-respiratory involvements were negatively associated with it.
165 citations
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September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
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.
44 citations
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September 2011 in “Journal of Pediatric Gastroenterology and Nutrition” This study reported four new cases of NISCH syndrome in a Moroccan family, confirming genetic variability in liver disease severity and suggesting potential benefits from early UDCA therapy.
This study determined that the incidence of Discoid Lupus Erythematosus at the Government General Hospital, Chennai, from 2006 to 2008 was 1.7 per 1000, with localized and disseminated forms manifesting distinctive demographic and clinical patterns.
This study introduced Cadd4, a peptide-based degrader developed using computer-aided drug design, which effectively reduced PCSK9 levels and increased LDL receptor expression, resulting in decreased plasma cholesterol and LDL-C levels in hypercholesterolemic mice, without liver toxicity.
January 2018 in “Przegla̧d dermatologiczny” This article presents diagnostic and therapeutic recommendations for cutaneous lupus erythematosus from the Polish Dermatological Society, but reports no new clinical findings.