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This study identified novel genetic variants related to rare skin and hair disorders, expanding the understanding of conditions like COLED, EV, and monilethrix, including a newly discovered type I keratin gene, KRT31, as a cause for monilethrix.

This review covers various disorders of cornification and their treatments, offering clinical insights but reporting no new research findings.

This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.

This study identified compound heterozygous mutations, c.1101del and c.736 T > A, in the LIPH gene responsible for causing autosomal recessive woolly hair in a child, with c.1101del being a novel frameshift mutation.

Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.

This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.

This review discusses the diagnostic and therapeutic challenges of hair shaft disorders and suggests diagnostic tools like trichoscopy and light microscopy, but reports no new clinical results.

This study describes a genetic mutation in the desmoglein 4 gene linked to localized autosomal recessive hypotrichosis in Pakistani families, showing similarities to animal models with similar hair loss conditions.

This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.

This review discusses the role of zebrafish as a model for studying human hereditary pigmentary disorders and reports no new experimental results, emphasizing their genetic similarities and the genetic tools available.

This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.

This review discusses the classification and diagnosis of hair shaft disorders based on fragility and emphasizes preventive care due to the lack of specific treatments.

The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.

This article reviews fetal scalp hair formation and related disorders but reports no new research results.

This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.

The authors of this review explore the link between thyroid disorders and skin conditions in children, highlighting how conditions like chronic urticaria, vitiligo, and alopecia may signal underlying thyroid issues and emphasizing the importance of early detection for timely diagnosis and personalized treatment.

Surgery on a baby with a skin disorder improved eyelid position and eye health.

This article reviews the rare skin disorder ichthyosis with confetti, highlighting the potential for future therapies using revertant stem cells, and reports no new clinical results.

This article reviews loose anagen hair syndrome, an inheritable hair disorder affecting children and sometimes adults, but does not report any new clinical results.

This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.

The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.

This study identified a 290 Kb microduplication in chromosome 1q22 in a family with members exhibiting neurodevelopmental disorders, suggesting a link between this genetic alteration and the observed neurological symptoms.

Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.

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.

In this review, skin changes like hair loss and brittle nails linked to nutritional deficiencies common in eating disorders are examined as critical diagnostic tools, highlighting the need for integrated care involving dermatologists, psychiatrists, and nutritionists for effective management.

This review discusses the variety of skin disorders associated with atopic dermatitis, exploring their complex relationships and shared genetic and environmental factors, but reports no new clinical results.

In this study, skin manifestations were observed in 48% of children with primary immunodeficiency disorders, often providing crucial diagnostic clues for early identification of these conditions.

This review discusses various skin lesions associated with endocrinologic disorders such as Cushing's syndrome and adrenal insufficiency, and it reports no new clinical results.

This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.