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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.

This report identifies a novel splice-site variant in the LAMB3 gene linked to junctional epidermolysis bullosa, emphasizing the need for gene sequencing in diagnosing the disease.

This study described four adult male cases of Kennedy disease with typical neurological symptoms and noted gynecomastia as the most frequent endocrinological manifestation, accompanied by an abnormal expansion in the androgen receptor gene.

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.

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.

This study highlights the potential role of the CYP21A2 and CYP19A1 genes in severe acne vulgaris among Han Chinese, especially males.

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.

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.

This study investigated a Labrador Retriever with paw pad hyperkeratosis and identified a unique de novo heterozygous missense variant in the GJB6 gene, suggesting its potential role in the condition, analogous to Clouston syndrome in humans, although differences between species may provide further insights.

This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.

This review discusses the role of jumonji family proteins in chromatin regulation and development, highlighting their involvement in transcriptional repression and histone demethylation, but reports no new experimental findings.

This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

This study systematically compared pediatric and adult Cushing's disease patients, revealing more severe and earlier-onset symptoms in males, and distinct gender-specific clinical manifestations.

In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.

This article reviews the clinical aspects and potential mechanisms of chronic graft vs host disease skin manifestations, describing a novel form of premature skin aging, but presents no new research findings.

This article discusses junctional epidermolysis bullosa caused by COL17 deficiency, noting a lack of experimental therapies and the impact of nonsense mutations, but it reports no new clinical results.

In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.

This study reports the first case of airway involvement in Conradi–Hünermann–Happle syndrome, highlighting successful management of severe subglottic stenosis with serial endoscopic balloon dilations in a 2-month-old female.

A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.

This case report describes a 6 1/2-year-old girl with significant height growth and early pubic hair development.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

In this study, CCCA patients were found to have higher odds of metabolic, autoimmune, atopic, and psychiatric comorbidities compared to matched controls.

This review consolidates current knowledge about Cronkhite-Canada syndrome, highlighting its symptoms, diagnostic challenges, and evolving treatment strategies, but reports no new clinical results.

This study describes two Danish cases of Cronkhite-Canada syndrome presenting with malnutrition and gastrointestinal issues; both patients underwent successful treatment and remission after developing colonic adenocarcinomas.

This case report describes chronic iron deficiency anemia in a patient with Cronkhite-Canada syndrome, highlighting the need for more data to guide treatment and cancer surveillance due to its rarity and mortality risk.

This study reviews the role of the zinc finger protein CXXC5 in cellular signaling and its implications for cancer, discussing how its dysregulation is linked to various physiological and pathological processes, as well as potential therapies targeting CXXC5.

This narrative discusses the personal experiences of individuals suffering from long COVID, highlighting the challenges and complexities of living with the condition, but reports no new clinical findings.

ICL is a condition with low CD4+ T cells like AIDS but not caused by HIV, and normal CD4+ T cell counts may vary between men and women.

In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.