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In this study, researchers found that the prevalent Glu 410 Lys mutation in hHb6 and a new Glu 403 Lys mutation in hHb1 are linked to monilethrix, suggesting a mutational hotspot in type II hair keratins.

This article introduces the term "anisotrichosis" to describe the significant variation in hair shaft diameters observed in pattern alopecia, drawing a parallel to anisocytosis seen in blood smears, but reports no new research findings.

This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.

This review discusses Robertsonian chromosomal translocations and their prevalence in the population, highlighting their association with infertility, and reports no new clinical results.

This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.

This report on two Indian male siblings with monilethrix highlights trichoscopy's role in diagnosing this condition, which can be complicated by early-onset androgenetic alopecia.

This research found that variations in the KRTAP gene family are likely responsible for the diverse hair phenotypes seen among mammals, influenced by gene repertoire differences, expression, and evolutionary factors.

This article discusses various periocular conditions like madarosis, milphosis, trichomegaly, and dermatochalasis, and highlights their potential link to underlying local and systemic diseases, but reports no new clinical findings.

In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.

This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.

In this study, hair shafts from trichothiodystrophy patients with ERCC2 mutations revealed abnormal cuticle structures and protein imbalances compared to normal hair shafts.

This case report found that a patient with cutaneous polyarteritis nodosa experienced rare and severe manifestations, including digital gangrene and a breast ulcer, requiring aggressive treatment and resulting in below-knee amputation.

This case report describes a 4-year-old boy with congenital alopecia characterized by complete irreversible hair loss and papular lesions associated with keratin-filled cysts.

This study describes three additional cases of encephalocraniocutaneous lipomatosis, emphasizing the importance of examining patients with ocular and ipsilateral skin lesions for this rare neurocutaneous disorder.

This report describes a case of trachyonychia with associated various types of lichen planus in a young male, highlighting the importance of accurate diagnosis for effective treatment.

This case report describes a 29-year-old woman diagnosed with both systemic lupus erythematosus and Graves' disease, illustrating the occurrence of autoimmune polyendocrine syndromes with specific combinations of autoimmune disorders.

This case report identifies an adolescent with symptoms indicative of Dunnigan-type partial lipodystrophy, emphasizing the need for early diagnosis to manage associated metabolic complications and improve self-esteem.

This report describes a case of two sisters with kinky, tangled hair diagnosed using trichoscopic and microscopic methods; they were treated with topical minoxidil.

This case report describes a patient with ulerythema ophryogenes who had developmental and physical anomalies and showed no improvement with topical or oral isotretinoin treatments.

In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.

This case report diagnosed an 8-year-old girl with trachyonychia and secondary onychomycosis, finding that spontaneous improvement is common, making specific therapy often unnecessary despite treatment challenges with associated fungal infections.

In this report, two adult patients with Tatton-Brown-Rahman syndrome exhibited new cardiac features, such as atrial fibrillation and ventricular and atrial dilatation, highlighting the importance of cardiovascular follow-up in adults with this condition.

This article reviews the genetic foundations of keratins in maintaining epithelial tissue integrity and links specific keratin variants to diverse ichthyosis forms, without presenting new clinical findings.

This case report describes a patient with polyglandular autoimmune syndrome type 2 diagnosed via adrenal crisis, with thyroid, adrenal, and ovarian involvement.

In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.

This study suggests that polyamines regulate CK2 enzyme activity and its subcellular distribution, as demonstrated in mouse models and cell cultures with elevated levels of ornithine decarboxylase.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

This study reports an increased frequency of the DI genotype of the ACE gene polymorphism among women with PCOS, notably in those with hyperandrogenism, and an association of the II genotype with insulin resistance.

This study found that the HoxC gene cluster plays a critical role in the development of ectodermal organs, including hair and nails, with mammalian-specific enhancers increasing transcription levels during development.