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This study found that minicircle-based gene therapy significantly lowered total homocysteine levels and improved liver CBS activity in a mouse model of CBS deficiency.

This study established a murine chronic graft-versus-host disease model with scleroderma features, showing typical skin changes and cellular infiltrates associated with the condition.

Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.

This study identified distinct gene expression programs in keratinocytes responsible for forming hard scales and soft interscale epidermis in chickens, revealing conserved differentiation genes similar to those in human skin.

This study reports previously unreported nail features in Cronkhite-Canada syndrome, specifically recurrent onychomadesis of all 20 nails linked to systemic illness.

This study observed that post-surgical use of chlorhexidine digluconate mouth rinse in patients may induce a fibrotic transformation in gingival tissue, promoting a scar-like wound healing response.

This study reported that trichoscopy can identify specific hair shaft abnormalities linked to increased serological activity, highlighting its use as a valuable non-invasive diagnostic tool in pediatric dermatology for neonates with ECS.

This case report describes a patient with Cronkhite–Canada syndrome, where immunosuppression and nutritional support led to disease remission.

This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.

This study found that the observed isotropic ss-ECD spectrum of finasteride is influenced by the anisotropy of locally oriented crystals, offering new possibilities for analyzing solid-state chiral materials.

This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.

This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.

Hair loss in Cronkhite-Canada syndrome may be due to an autoimmune response.

This case report highlights a 16-year-old girl with primary amenorrhea diagnosed with complete androgen insensitivity syndrome after chromosomal analysis revealed a 46,XY karyotype.

In this study, CTCF was found to play essential roles in epidermal differentiation and skin barrier formation, simultaneously acting as a suppressor of epithelial inflammatory responses in mouse skin.

In this study, children with classical congenital adrenal hyperplasia were found to have increased epicardial fat thickness, which was associated with subclinical atherosclerosis markers and left ventricular dysfunction, especially in poorly controlled cases.

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.

This study identified a genetic locus associated with rhabdomyosarcoma susceptibility in mice and found that specific differentiation markers are linked to the regression of basal cell carcinoma.

This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.

This study found that women with nonclassic congenital adrenal hyperplasia (NC-CAH) reported lower sexual function and higher sexual distress compared to those with classic CAH (C-CAH), particularly among those showing signs of androgen excess.

This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.

This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.

Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.

This study found that low-dose chemotherapy for solitary bone lesions of Langerhans cell histiocytosis in children led to quicker recovery, higher quality of life at 3 months, and was more cost-effective compared to surgery.

This study presents a new method called scMC that effectively distinguishes biological from technical variation in single-cell genomics datasets, demonstrating its ability to accurately align and detect biological signals across various experiments.

This study found that basal cell carcinoma cells differentiate along hair follicle lineages and may be influenced by hair follicle cycle modulators for potential therapeutic targeting.

This study found that CLK1 is necessary for epidermal differentiation but does not affect sebocyte differentiation in a telogen skin stem cell line.