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This study found that deleting the CD98hc protein in mouse skin impairs wound healing and homeostasis, resembling aging effects, due to disrupted integrin signaling pathways.

This study reports the first case in South Korea of Cronkhite-Canada syndrome associated with malignant colon polyp and serrated adenoma.

This article explores whether juxta-clavicular beaded and cutis punctata linearis colli are the same condition, finding both similarities and differences, but reports no new definitive findings.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

This study found that an E-cadherin mutant preserved normal cadherin levels and prevented inflammation and lethality in mouse skin lacking p120, highlighting p120's role in regulating cadherin-mediated cell adhesion and inflammation.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

This study found that mutant Cx43 impairs fibroblast function during wound healing and reduces hair follicle cell proliferation, likely contributing to hair growth defects in ODDD patients.

This study observed that mice with a Cx43 mutation exhibited slower and asynchronous hair regrowth with severe cuticle weathering, mimicking aspects of hair phenotype in some ODDD patients.

This case report highlights a rare instance of esophageal carcinoma in a patient with Cronkhite-Canada syndrome, emphasizing the importance of endoscopic surveillance for malignant gastrointestinal tumors in these patients.

This study found that the CXXC5 protein is overexpressed in diabetic foot ulcer tissues, suppressing wound healing, and that the small molecule KY19334 accelerated healing in diabetic mice by activating the Wnt/β-catenin pathway.

This study reports a novel diagnostic method for latent circadian rhythm sleep-wake disorder using circadian gene oscillations from hair follicle cells to improve sleep disorder differentiation and potential therapeutic intervention.

This case study reports a rare instance of Majocchi's granuloma caused by Candida, highlighting the patient's diabetes mellitus and kidney transplant as predisposing factors for the infection.

This study suggests that hair cortisol measurement could serve as an alternative diagnostic method for Cushing’s disease, showing acceptable concordance with urinary free cortisol despite differing evaluated periods.

This case report highlights the use of microarray analysis to identify cryptic chromosomal rearrangements in a young woman with intellectual disability and multiple congenital anomalies.

In this study using tamoxifen-inducible claudin-1 knockout mice, researchers observed that tight junction barrier leakage induced stratum corneum barrier defects and skin inflammation, suggesting a possible cycle of barrier damage and inflammation in atopic dermatitis.

This case report describes a 33-year-old Indian male with Cronkhite-Canada syndrome who experienced complete symptom recovery within 5 months after starting a high protein diet, proton pump inhibitors, and zinc-vitamin supplements.

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.

This study found that combining Juniperus communis extract with 5-Fluorouracil inhibited oral cancer cell growth more effectively than 5-FU alone, inducing cancer cell death and reducing drug resistance by affecting key cellular pathways and proteins.

This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.

This article reviews congenital adrenal hyperplasia, a group of rare genetic disorders affecting steroid synthesis, and highlights the need for specific therapy and ongoing monitoring, but reports no new clinical findings.

This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.

This report describes a case where a 23-year-old woman with juvenile rheumatoid arthritis developed generalized ichthyosiform eruption due to sarcoidosis after long-term use of systemic corticosteroids.

This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.

This case report describes a five-year-old boy diagnosed with nevus comedonicus syndrome, a rare skin condition, characterized by asymptomatic skin lesions and a congenital cataract of the right eye, without inflammation or typical signs of related conditions.

This pilot clinical study introduces DEC cells as a novel therapy for Duchenne muscular dystrophy, confirming safety and efficacy in seven patients up to 24 months post-treatment.

In this report, a 54-year-old woman with familial dyskeratotic comedones showed slight improvement in skin lesions after topical retinoids and urea cream. This source also describes the first dermoscopic findings for this condition and reviews 21 previous cases.

This study found that targeting CISD1 with the compound NL-1 reduced mitochondrial dysfunction and reactive oxygen species accumulation, protecting against cisplatin-induced hearing loss in cell models and mice, without affecting cisplatin's cancer-fighting effectiveness.