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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.

The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.

This study found that monilethrix in three unrelated European families is linked to the type II keratin gene cluster on chromosome 12q13, with no evidence of defects in type I keratins.

This article reports a case of a 19-month-old boy with scalp erythematous papules and hair loss, showing no improvement with initial treatment.

This report on a case of alopecia areata in a mother and daughter with a 16-year gap suggests genetic predisposition and environmental triggers rather than direct transmission.

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 Danish family with monilethrix showed varying symptoms, diagnosed via dermatoscopy, microscopy, and gene sequencing. The study highlights that while no cure exists, oral minoxidil shows promise in a single case, and reducing hair trauma remains key for management.

This case study describes a 4-year-old girl's diagnosis of erythrokeratodermia variabilis despite various ineffective treatments, highlighting a rare skin condition with persistent symptoms.

This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.

This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.

This review discusses the diagnostic criteria and guidelines for managing loose anagen syndrome and differentiating it from non-scarring alopecias, but it reports no new clinical results.

This case study reported the first diagnosis of IFAP syndrome in Brazil with molecular investigation, identifying a rare MBTPS2 gene variant and expanding the known mutational spectrum associated with the condition.

This study identified a novel missense MAFB variant in a family with some unaffected members, suggesting incomplete penetrance and the potential influence of modifier genes, epigenetic mechanisms, or environmental factors on MCTO phenotype.

This review addresses clinical findings in parathyroid disease and discusses the metabolism of calcium, phosphorus, vitamin D, and parathyroid hormone, reporting no new results.

Among families with pediatric brain disease, this study identified over 200 novel genetic causes, revealing potential treatment points using drug repurposing or nutritional supplementation.

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.

In this case report, researchers describe a 22-year-old male with a unique presentation of Senior-Løken Syndrome due to a NPHP4 mutation, exhibiting atypical symptoms like cryptorchidism, alopecia, and potential syndromic overlap with Rothmund-Thomson Syndrome, suggesting complex genetic interactions and expanding the phenotypic spectrum of ciliopathies.

Hair growth dysfunction involves various conditions with limited treatment options.

This study found that stress plays a significant role in altering phenotypic features and body composition among PCOS patients, potentially worsening due to the COVID-19 pandemic.

In this study, no significant association was found between androgenetic alopecia and increased risks of hypertension or hyperaldosteronism among male participants in Saudi Arabia, suggesting that AGA should not be considered an indicator for these conditions.

This review discusses the potential role of androgen receptor CAG repeat polymorphism testing in hypogonadism management for both sexes, but its clinical utility remains unclear and requires further investigation.

This case report is the first to associate NEMO syndrome with systemic lupus erythematosus, suggesting a potential role for NF-kB essential modulator in the pathogenesis of SLE.

This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.

This article discusses two cases of follicular dyskeratosis (Darier-White disease), highlighting its rare occurrence, genetic basis, and the challenges in diagnosis and treatment; it presents no new experimental results.

This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.

This chapter reviews various fungal skin diseases affecting cattle but does not report new research findings; it focuses on rare, inherited, and congenital conditions like follicular dysplasia and cutaneous asthenia.

This study found a novel PAX9 gene mutation that may cause tooth agenesis and trichodysplasia in a studied family.

This guide provides a comprehensive approach to diagnosing periocular hair disorders, which can range from benign conditions to those posing serious health risks.

This article discusses the clinical presentation, histopathologic findings, and pathogenesis hypotheses of vitiligo without reporting new clinical results.

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.