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This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.

A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.

This study found that a simplified classification based on clinical and morphological features may aid in the diagnosis and initial management of inherited keratinizing disorders, although genetic analysis is essential for definitive diagnosis.

This case report describes a 56-year-old woman with wooly hair and skin lesions, who experienced reduced plaque size and thickness after using 6% salicylic acid topically for three months.

This case report suggests acitretin as a potential treatment for pseudoainhum, following the successful resolution of the condition in a patient with palmoplantar keratoderma and congenital alopecia.

This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.

In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.

This case study highlights the unique occurrence of Papillon-Lefévre syndrome in two siblings from a consanguineous family, emphasizing the potential role of genetic factors in the disease's development.

This thesis found that desmoplakin mutations in cardiocutaneous syndrome are linked to dose-dependent disease severity and identified mechanisms by which KLHL24 mutations cause cardiomyopathy, with rescue experiments successfully preventing this phenotype in patient-derived heart tissues.

This study found that PDGFA is critical for the proliferation and maintenance of adipocyte stem cells in skin but not other white adipose tissues, highlighting unique regulatory mechanisms in different tissue depots.

This review outlines a diagnostic framework for clinicians to distinguish different types of inherited ichthyoses and suggests further testing and treatment strategies, but reports no 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.

This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.

This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.

Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.

This study found that certain keratin gene mutations associated with pachyonychia congenita are linked to altered enamel structure and increased risk of dental caries.

This overview discusses advancements in the understanding of molecular genetics in heritable keratinization disorders, focusing on recent cases of inherited ichthyosis, and reports no new clinical results.

This study found that inhibiting AP1 transcription factor activity in the suprabasal epidermis of mice alters keratinocyte gene expression, reducing barrier integrity and mimicking human keratoderma.

This review discusses the distinctive non-infective skin presentations of HIV infection from a dermatological perspective and reports no new clinical findings.

This study reports that spironolactone use was associated with a decreased risk of developing rosacea compared to other diuretics, particularly in current users without previous androgenic skin disease diagnoses.

This review examines the therapeutic potential of Aftimoon (Cuscuta reflexa), focusing on its pharmacological properties and traditional uses in Unani medicine for various ailments, and highlighting its range of biological activities, including antioxidant and anti-inflammatory effects.

This study found that patients with hypothyroidism at a tertiary hospital in South India most commonly exhibited skin dryness (xerosis/ichthyosis) and swelling of the feet (pedal oedema).

The document explains the genetic causes and characteristics of inherited hair disorders.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

This study investigated cutaneous manifestations in thyroid disorder patients, finding that hypothyroid patients commonly experienced dry skin (67.83%) while warm skin (93.3%) and increased sweating prevailed in hyperthyroid patients, with urticaria being the most common autoimmune association among both groups.

This study found that in Liaoning cashmere goats, overexpression of the PIP5K1A gene enhances skin fibroblast proliferation, while interference with this gene reverses melatonin-induced proliferation, and PIP5K1A regulates certain miRNA expressions, suggesting a role in improving cashmere yield and quality.

In a tropical, high-burden region, this study found that tinea corporis and tinea cruris were the most common types of dermatophytosis, particularly affecting female adults, and that treatment commonly involved griseofulvin and ketoconazole cream, with Trichophyton mentagrophytes as the prevalent pathogen.

This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.

This handbook of dermatology provides a comprehensive practical manual for dermatologists, but reports no new research findings.

The document explains various skin conditions and their treatments.