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This case report describes two boys with Danon disease, initially misdiagnosed due to increased transaminases, who exhibited cardiac issues and muscle pseudohypertrophy.

Patients with central centrifugal cicatricial alopecia may have a higher risk of breast and colorectal cancer.

This report highlights a case where intralesional cidofovir successfully treated squamous cell carcinoma without systemic toxicity, suggesting it may be a viable alternative to surgical excision.

This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.

This collection of abstracts from the 2025 IJCR Global Summit documents a diverse array of clinical research topics, with no new study results as they remain in their original submission format without peer review.

This study described a case where both alopecia universalis and Crohn's ileitis in a 23-year-old man showed remarkable improvement with the JAK1 inhibitor upadacitinib, highlighting its potential as a treatment for patients with concurrent conditions.

This case report suggests that intralesional cidofovir may be a consideration for treating squamous cell carcinoma, as it showed a successful outcome without systemic toxicity, although surgical excision remains preferred.

In this study, researchers emphasized the need for standardized definitions and improved methodologies in assessing LC prevalence, suggesting that future research explore prospective cohorts to refine estimates and examine long-term health outcomes.

This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.

This document provides a legal disclaimer and offers no research findings.

This case study highlights the late diagnosis of complete androgen insensitivity syndrome in a 31-year-old woman, emphasizing the psychological impact and need for individualized treatment guidelines.

The Journal of Cutaneous and Aesthetic Surgery is now included in PubMed.

In this case report, the authors documented a fatal instance of Stevens-Johnson syndrome in an elderly woman potentially triggered by doxycycline and flucloxacillin, emphasizing the importance of recognizing such rare but severe drug reactions in older patients.

This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.

This study demonstrated that elevated glucocorticoid levels in transgenic mice led to pancreatic exocrine cells transforming into hepatocyte-like cells, resulting in pancreatic dysfunction.

This review discusses recent advancements in congenital adrenal hyperplasia research, including improved diagnostic techniques, alternative treatments, and insights from long-term outcome data, but it reports no new clinical results.

CRISPR/Cas9 and prime editing can potentially fix skin disorder genes safely and effectively.

This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.

This article reviews the role of the hairless protein in hair cycling and gene regulation, noting the need for further understanding of its JmjC domain and subcellular localization roles.

This study identified a subpopulation of neural crest-derived progenitor cells in human corneal endothelial tissue from normal and Fuchs endothelial corneal dystrophy donors, which may have potential for future cell therapy development.

In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.

This overview highlights the Dermatologic Surgery journal's comprehensive coverage of dermatologic surgical procedures, but it reports no new research findings.

This study investigated a spontaneous mutation in mice resulting in hair abnormalities and elevated IgE levels, which resembles human Netherton's syndrome and monilethrix.

This article reviews Cronkhite-Canada syndrome as a distinct condition from Peutz-Jeghers syndrome and familial polyposis, with cases showing gastrointestinal polyposis, skin, hair, nail abnormalities, and hypoproteinemia.

This case report describes a 56-year-old male with chronic watery diarrhea, hyperpigmentation, and alopecia, in whom colonoscopy revealed multiple polypoidal lesions from the distal transverse colon to the rectum.

This case study reported a 40-year-old woman developing Cushing Syndrome months after a single intraarticular injection of Triamcinolone Acetonide, highlighting the potential long-term effects of corticosteroid exposure and the importance of awareness about these risks for clinicians and patients.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This study identified four novel mutations in the C2orf37 gene among Woodhouse–Sakati syndrome patients, doubling known mutations, and found no significant link between isolated symptoms like deafness and dystonia and these mutations.

This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.