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This study reports that improvement with corticosteroids or other immunosuppressants in Satoyoshi syndrome suggests an autoimmune origin, supported by its association with other autoimmune diseases and autoantibodies.

A novel mutation in the SLC39A4 gene was identified in an infant with mild, incomplete acrodermatitis enteropathic symptoms, suggesting genetic testing is beneficial even without the full symptom triad.

This study identified genetic variants in the DSG4 gene associated with the autosomal recessive form of monilethrix in Chinese patients, expanding the understanding of its phenotypic spectrum and clinical features.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

Evaluate and manage androgen excess in women with a systematic approach, considering both physical and psychological impacts.

This study describes the case of a young boy with Netherton syndrome who showed significant improvements in skin inflammation, quality of life, and hair growth after receiving dupilumab, with a marked decrease in serum IgE levels observed following treatment.

This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

This case report describes a 27-year-old pregnant woman with Werner9s syndrome and uncontrolled hypertension, resulting in her death during an emergency caesarean section, though her baby survived and tested negative for the condition.

This study found a strong positive correlation between alopecia areata burden and the Socio-Demographic Index, indicating a disproportionate impact on high-income countries, especially affecting young adults and females.

In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.

This case study reported on a 6-year-old boy with Kindler Syndrome born to consanguineous parents, featuring atypical symptoms like hyperpigmented macules and glucose intolerance, contributing to expanding insights into the condition's phenotypic diversity.

This study found that cataracts, hair changes, short stature, and low bodyweight are key indicators for diagnosing Werner syndrome in patients under 30, differing from older age group symptoms.

In this case report from People's College of Medical Sciences, a 20-year-old man initially misdiagnosed with Addison's disease was ultimately found to have strongyloidiasis, with his symptoms and weight loss improving after antihelminthic treatment.

This case report describes a 10-month-old boy with VACTERL association and athymia who developed Omenn syndrome, highlighting the complex overlap of these conditions and the challenging clinical course due to profound T-cell immunodeficiency.

This study reported a higher prevalence of androgenetic alopecia in male respondents compared to female respondents in different regions of Saudi Arabia.

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 transplanting human cord blood mononuclear cells transfected with a plasmid encoding VEGF and FGF2 into rat skin wounds may accelerate the wound healing process.

This report describes two cases where female patients with chronic granulomatous disease developed manifestations of systemic lupus erythematosus, highlighting a rare association that may influence clinical evaluation and treatment planning.

In this case report, the authors describe a child and his mother with a heterozygous STING variant linked to SAVI, who exhibited atypical disease courses and varying organ involvement, underlining the diverse clinical manifestations of SAVI.

In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.

In this case report, a three-generation family with Gorlin-Goltz syndrome showed a heterozygous PTCH1 splice-donor variant associated with the disease, and two affected relatives benefited from individualized, side-effect-guided dosing of the drug sonidegib, experiencing regression of basal cell carcinoma lesions.

This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.

This study identified ABCB6 as the first gene linked to dyschromatosis universalis hereditaria (DUH) in a large Chinese family, suggesting it plays a role in skin pigmentation.

This study found that metabolic syndrome or related metabolic issues are common among the family members of women with polycystic ovary syndrome.

This study found that the CYP3A4 rs4646437 genotype was significantly associated with ALT elevation in Japanese patients undergoing asunaprevir plus daclatasvir therapy for chronic HCV infection, suggesting genotyping may help in monitoring patients safely.

This case report highlights the association of three CX26 gene mutations, particularly the D50N mutation, with keratitis–ichthyosis–deafness syndrome and its potential role in scalp squamous cell carcinoma and breast cancer development in a patient.

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.