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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 identified that Eda-A1 unexpectedly induces placode inhibitors dkk4 and lrp4, indicating the importance of tightly regulated signaling for proper ectodermal organ development.

In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.

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.

A specific gene mutation causes sparse, brittle hair in a family.

In this study, researchers found no significant association between the D19S884 marker near the insulin receptor gene and polycystic ovary syndrome in women from Spain and Italy.

This case report describes an extremely rare instance of seminoma in an adult with SRY-negative 46,XX testicular disorder of sex development, uniquely presenting as acute abdomen due to gonadal torsion.

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.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

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 chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.

In this study, researchers found that TCDD exposure accelerated differentiation and altered gene expression in human epidermal cells, indicating the epidermal barrier as a target of TCDD-activated AHR.

In this study, D6D knockout mice showed severe deficiency in AA and DHA, leading to unexpected effects on skin health, fertility, and immune cell development.

Mutations in the DSG4 gene cause specific hair and scalp issues.

This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.

This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.

This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.

This review discusses the role of the ectodysplasin A2 receptor as a biomarker and driver of ageing related to inflammation, and its potential therapeutic implications, but reports no new clinical findings.

This study found that the combination of mammography and hair X-ray diffraction increased sensitivity for detecting breast cancer compared to using each method alone.

This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.

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.

In this case study, drospirenone use masked the diagnosis of a rare form of congenital adrenal hyperplasia, suggesting a possible delay in detecting underlying endocrinopathies.

This case report describes a 43-year-old woman diagnosed with both Kikuchi-Fujimoto disease and systemic lupus erythematosus, who showed clinical improvement after treatment with glucocorticoids and hydroxychloroquine, highlighting the rare coexistence of these conditions and the ongoing uncertainty about the precise cause of Kikuchi-Fujimoto disease.

This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.

This study observed that infants exposed to diazoxide in utero exhibited abnormal hair growth and, in some cases, impaired glucose tolerance, particularly those born to diabetic mothers.

This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.

This article provides a reference guide for various dermatological terms, treatments, and conditions, but reports no new clinical findings.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.