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The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.

This issue of the Journal of Cosmetic Dermatology reviews several topics, including the use of radiofrequency in aesthetics and cannabinoids for skin diseases, but presents no new research findings.

This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.

This study observed that since the onset of COVID-19 and the introduction of vaccines, there has been an increase in chronic, severe health conditions, with symptoms affecting both those infected with COVID variants and vaccinated individuals, especially those receiving Pfizer and Moderna vaccines.

This article discusses skin lesions in chronic graft-versus-host disease and highlights the importance of coordinated care between haematologists and dermatologists for effective management; it presents no new clinical results.

This review discusses the diverse extra-intestinal manifestations of celiac disease in children and reports no new clinical results; the authors note differences in symptom prevalence and resolution compared to adults.

In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.

This review discusses the pathophysiology, diagnosis, and treatment of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency and provides no new clinical results.

This study found no significant difference in comorbidities between patients with central centrifugal cicatricial alopecia and those with nonscarring alopecia.

CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.

In this study, targeted deletion of the stearoyl-CoA desaturase 1 gene in mice disrupted the epidermal lipid barrier, leading to increased water loss, impaired thermoregulation, and metabolic issues.

This case report presents a rare instance of recurrent ACTH-independent Cushing’s syndrome due to PBMAH, coinciding with the development of a pheochromocytoma, highlighting the need for thorough reevaluation in similar recurring cases.

Men with CCCA often face delayed diagnosis and severe hair loss, highlighting the need for earlier recognition and treatment.

This study found that among mixed connective tissue disease patients in a tertiary care hospital in Pakistan, Raynaud phenomenon was the most common clinical feature, present in 80% of patients.

This study identified a heterozygous de novo mutation in the ODC1 gene causing a new disorder characterized by overgrowth and developmental delay, and suggests that DFMO treatment may help manage elevated ODC activity and putrescine levels.

This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.

In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.

This discussion reviews the shift in pharmaceutical strategy towards evidence-based and structure-guided drug development, highlighting ongoing challenges and efforts in computer-aided drug design without presenting new clinical results.

This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.

This review of DAVID syndrome cases found that ACTH deficiency often preceded by sinus infections or alopecia is linked to specific NFKB2 gene mutations, highlighting the importance of early diagnosis to prevent complications.

This case study describes the clinical presentation and diagnostic findings of an 80-year-old woman with Cronkhite-Canada syndrome.

This article discusses central centrifugal cicatricial alopecia, noting its prevalence in women of African descent and highlighting the need for further genetic research to improve treatment options; it reports no new clinical results.

This case report presents the first Russian patient with Meier-Gorlin syndrome 5, expanding clinical understanding through the identification of two novel CDC6 gene variants.

This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.

This report describes early and late stages of central centrifugal cicatricial alopecia in two Black women, highlighting progression from a small to a large central patch of hair loss.

This report documents a case of Cronkhite-Canada Syndrome in a 56-year-old Laotian man, who successfully improved with vitamin supplementation and medical treatment after experiencing weight loss, alopecia, and gastrointestinal polyposis.

Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.

This report details the case of an 11-year-old girl with APECED syndrome carrying a unique homozygous mutation in the AIRE gene, the first of its kind documented.