research EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
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660-690 / 1000+ resultsresearch Characterization of the epidermal-dermal junction in hiPSC-derived skin organoids
The study created hair-bearing skin models that lack a key protein for skin layer attachment, limiting their use for certain skin disease research.
research Isolated patchy heterochromia with pili annulati features on light and electron microscopy
Isolated patchy heterochromia with pili annulati can occur without other health issues.
research Disorders linked to insufficient androgen action in male children
Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
research Three orphans one should know: red scalp, red ear and red scrotum syndrome
The document concludes that early recognition and appropriate treatment of red scalp, red ear, and red scrotum syndromes can lead to remission.
research Dyschromatosis Universalis Hereditaria: Report of a case and Review of the Literature
A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.
research A Simple In Vivo System for Studying Epithelialization, Hair Follicle Formation, and Invasion Using Primary Epidermal Cells from Wild-Type and Transgenic Ornithine Decarboxylase-Overexpressing Mouse Skin
Overexpressing ornithine decarboxylase and v-Ha-ras in keratinocytes leads to invasiveness and malignancy.
research Inherited Disorders of the Hair
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research UTX (KDM6A) promotes differentiation noncatalytically in somatic self-renewing epithelia
UTX is crucial for skin differentiation and health, especially in females.
research Recently Identified Forms of Epidermolysis Bullosa
Three new types of a skin blistering disease were found, caused by specific gene mutations.
research Region-specific reversal of epidermal planar polarity in the rosette fancy mouse
Hair follicles in the back of the rosette fancy mouse have reversed orientations due to a gene mutation.
research Eruptive syringomas in Down’s syndrome
People with Down's syndrome are more likely to have syringomas.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Special issue on epidermal and hair follicle differentiation, part 2
research ALX4-related frontonasal dysplasia sequence presenting with alopecia in a 12 year old girl
A 12-year-old girl's hair loss was linked to a rare genetic condition called ALX4-related frontonasal dysplasia.
research Ectopic acanthosis nigricans at a post-syndactyly surgical site: An unusual reactive epidermal phenomenon
Ectopic acanthosis nigricans can occur at surgical sites due to skin graft mismatches.
research Edar/Eda interactions regulate enamel knot formation in tooth morphogenesis
Edar and Eda proteins are crucial for proper tooth development.
research A Heritable Keratinization Defect of the Superficial Epidermis in Norfolk Terriers
Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.
research Acrodermatitis Enteropathica‐like Eruption in an Infant with Nonketotic Hyperglycinemia
A baby with a rare metabolic disorder developed a rash not cured by zinc alone, likely due to both zinc and amino acid deficiencies.
research Ichthyoses
Ichthyoses are skin disorders causing scales, with treatment depending on type and severity.
research 8242 A Case of Ayme Gripp Syndrome
Ayme-Gripp Syndrome was confirmed in a woman through genetic testing, highlighting the need to consider rare genetic conditions in diagnoses.
research A novel missense mutation (C622G) in the zinc‐finger domain of the human hairless gene associated with congenital atrichia with papular lesions
A new gene mutation causes a rare type of hair loss.
research Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix
The keratin tail is crucial for skin structure and function.
research Defective trophoblast function in mice with a targeted mutation of Ets2
Ets2 gene is crucial for placental development in mice.
research Heterozygous Arrhythmogenic Cardiomyopathy-desmoplakin Mutation Carriers Exhibit a Subclinical Cutaneous Phenotype with Cell Membrane Disruption and Lack of Intercellular Adhesion
Carriers of a specific gene mutation have subtle skin changes without visible symptoms.
research Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case
The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
research Pearly Pinna Papules in a Young Female
The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
research 565 hiPSC-derived skin organoids as tools for disease modelling: characterization of the epidermal-dermal junction
Human-induced stem cell-created skin models can help understand skin diseases by studying the skin's layers.
research Mucocutaneous Findings and Endocrinopathies in Children with Turner Syndrome: A Cross-Sectional Study
Children with Turner Syndrome often have skin, hair, and nail issues linked to hormonal problems, so regular skin checks are recommended.