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In this study, researchers found that a PER3 gene SNP may be pathogenic for a new subtype of dyschromatosis universalis hereditaria, especially when combined with a SASH1 mutation.

This case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.

This review discusses the clinical manifestations and genetic basis of pigmentary mosaicism, highlighting its varied phenotypic expressions, but reports no new clinical results.

This case study reported on a 6-year-old boy with Kindler Syndrome born to consanguineous parents, featuring atypical symptoms like hyperpigmented macules and glucose intolerance, contributing to expanding insights into the condition's phenotypic diversity.

In this study of four Chinese goat breeds, black goats exhibited significantly higher melanin content, while Inner Mongolian cashmere goats had longer fiber lengths. These findings highlight genetic variations in coat color and fiber length, informing future breeding programs.

This study found that fibromodulin significantly reduces scar formation and boosts scar strength in rodent and porcine models, suggesting potential for FMOD-based therapies in cutaneous wound repair.

This study reports a new family with hereditary fibrosing poikiloderma (POIKTMP) and identifies a pancreatic cancer occurrence in a family member, raising questions about FAM111B's role as a potential cancer predisposition gene.

This review of murine studies reports that γ-rays affect hair follicle pigmentation in mice throughout the hair cycle, while effects on hair structure may be obscured by aging.

This case report describes an 11-month-old boy with Menkes disease, highlighting symptoms such as developmental delays and poor therapeutic response due to significant brain and vascular abnormalities.

This study identified a novel bi-allelic missense variant in the DSC3 gene linked to severe Hypotrichosis with Recurrent Skin Vesicles in a Saudi child, supporting its role in the condition.

This article reports on lentiginosis observed within plaques of linear atrophoderma of Moulin and discusses its potential classification as a twin-spotting phenomenon but provides no new clinical research results.

A pregnant woman's skin condition improved after giving birth, possibly due to high estrogen levels during pregnancy.

Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.

In this study, γ-ray irradiation of mice reduced hair follicle density and pigmentation, suggesting damage to stem cells and progenitors for keratinocytes and melanocytes.

This study suggests that gamma-ray irradiation affects hair follicle density, structure, and pigmentation in mice, with some changes observed in later hair cycles.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.

This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.

In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.

This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.

This review discusses the role of the MC1R gene in human pigmentation and its genetic variants, reporting no new results; the authors highlight its forensic applications for phenotypic prediction.

This article discusses the role of HR gene mutations in differentiating atrichia with papular lesions from alopecia universalis, but presents no new experimental results.

This study found that Wnt secretion is important for maintaining skin homeostasis in mice, as Evi-deficient mice developed psoriasis-like skin lesions and had an imbalance in immune cell populations.

This review outlines evidence-based strategies for diagnosing pediatric hypopigmented disorders and emphasizes distinguishing vitiligo from self-limiting conditions through a systematic clinical approach; no new results are reported.

Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.

This study reports that aging in mice leads to curved hair follicles and an increase in white hairs, potentially due to changes in keratinocyte and melanocyte stem cells.

This review covers the diverse cutaneous and systemic presentations of sarcoidosis in patients with skin of color, emphasizing the importance of early recognition to improve outcomes despite a generally poorer prognosis compared to Caucasians.

This study reported that the Undiagnosed Disease Program at Ghent University Hospital successfully provided definite diagnoses for 18% of referred adults with suspected rare diseases, primarily through genomic technologies.

This case report documented a family in Prayagraj, Uttar Pradesh, India, suffering from epidemic dropsy due to consuming mustard oil contaminated with argemone oil, resulting in symptoms like pancytopenia, acute kidney injury, and reticular hyperpigmented rash; conservative management showed improvement in their condition.

This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.