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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 article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.

This study demonstrated that murine monoclonal antibodies can reveal specific patterns of desmosomal cadherin expression, Dsc1 and Dsc3, in human tissues and cultured cells using immunofluorescence microscopy.

This study identified KLHL24 as a new gene linked to a subtype of epidermolysis bullosa simplex, highlighting its role in unresolved cases by involving a degradation-resistant truncated protein impacting keratin turnover.

This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.

This review discusses recent insights into the dynamics and regulation of the epidermal differentiation complex during keratinocyte differentiation and reports no new experimental results.

Dermoscopy is useful for diagnosing and monitoring discoid lupus erythematosus by showing specific skin patterns.

This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.

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 report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.

In this study, researchers found that the loss of SETDB1 in epidermal keratinocytes led to altered chromatin states, increased ERV expression, and activation of immune responses, while inhibiting these effects with certain antiviral drugs reduced skin inflammation and hair loss in a mouse model.

In this case report, a patient with a history of discoid lupus erythematosus experienced an exacerbation of the condition after topical immunotherapy for alopecia areata, suggesting contact dermatitis as a potential trigger.

This study reports that systemic lupus erythematosus patients with Evans syndrome often exhibited photosensitivity, hypocomplementemia, and elevated serum IgG, while lupus nephritis was less common, suggesting distinct clinical features.

Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.

This table reports gene set enrichment analysis scores for hair follicle compartments across diseases and sampling methods, providing comparisons but no new experimental findings.

In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.

This review discusses the role of epidermal differentiation complex genes and epigenetic mechanisms in skin development and certain diseases, emphasizing their potential for improving drug development and delivery systems but provides no new experimental results.

This study found that the HS III element in the K14 gene's regulatory sequence promotes gene expression in inner root sheath keratinocytes, highlighting cooperative interactions in keratinocyte-specific gene regulation.

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

This review discusses erosive pustular dermatosis of the scalp, including its characteristics, potential triggers, and its classification as a neutrophilic dermatosis, but reports no new clinical findings.

This review discusses the physiological roles of the epidermal differentiation complex and its potential involvement in psoriasis, but it reports no new experimental findings.

This study found that a genetic variant in the EDAR gene leads to typical East Asian hair characteristics by increasing signaling output, as shown in transgenic mice experiments.

Ectodysplasin-A1 is crucial for developing hair, teeth, and glands.

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

This study found that mechanical disruption of the desmosomal cadherin Dsg3 in hair follicle stem cells activates them from quiescence, highlighting its role as a key regulator of stem cell quiescence and epithelial niche integrity.

This study found that the EDAR 1540T/C genetic variant is significantly associated with hair thickness variation in Japanese populations, enhancing previously observed associations in Southeast Asian groups.

Antisense oligonucleotides show promise for treating Myotonic Dystrophy type I.

This study reported that genetic testing is crucial for accurately diagnosing hypotrichosis, especially in cases with subtle symptoms or coexisting severe atopic dermatitis, as demonstrated in a young girl with a DSG4 gene mutation.

This review discusses the skin and systemic conditions associated with Down syndrome and reports no new clinical results, emphasizing the need for awareness of these manifestations in diagnosis.

EDA2R gene linked to hair loss.