research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
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750-780 / 1000+ resultsresearch Three-dimensional analyses of touch domes in the hairy skin of the cat paw reveal morphological substrates for complex sensory processing
Cat paws have complex touch sensors for detailed sensory processing.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Twins with psychiatric features and a nonsense HRAS variant affecting transcript processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Do you know this syndrome? * Você conhece esta síndrome? *
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
research Polythelia pilosa: A Particular Form of Accessory Mammary Tissue
Polythelia pilosa is a type of extra breast tissue with hair and should be classified as such.
research Trachyonychia with juvenile pityriasis rubra pilaris
A young boy with a rare skin and nail condition improved significantly with simple topical treatments.
research 1375 Cutaneous adnexal cysts revisited: A novel classification based on morphological and molecular features
The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.
research SPECIFIC ECTODERMAL ENHANCERS CONTROL THE EXPRESSION OFHoxcGENES IN DEVELOPING MAMMALIAN INTEGUMENTS
The HoxC gene cluster and its enhancers are essential for developing hair and nails in mammals.
research Biotin and biotinidase deficiency
Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
research British Association of Dermatologists guidelines on the efficacy and use of acitretin in dermatology
Acitretin is effective for severe skin conditions but has significant side effects and requires careful monitoring.
research Unraveling the ECM-Immune Cell Crosstalk in Skin Diseases
Abnormal ECM and immune cell interactions can cause skin diseases.
research Hox genes in development and beyond
Hox genes are crucial for development and tissue maintenance, affecting structures and functions throughout life.
research Role of FGFR2-signaling in the pathogenesis of acne
Increased FGFR2b signaling, influenced by androgens, plays a role in causing acne.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016–2023)
Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
research Chronic overlapping pain conditions and nociplastic pain
Nociplastic pain is a complex, heritable trait with genetic links to chronic and neuropathic pain.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Acne Syndromes and Mosaicism
Understanding how acne develops in different diseases could lead to new treatments.
research Unraveling Translational Insights into Systemic Multi-Organ Toxicity of Cytosine Arabinoside (Ara-C): A Systematic Review of Preclinical Animal Evidence
Cytarabine can cause multiple organ toxicities, especially neurotoxicity, but better research methods are needed to fully understand and predict these effects.
research Role of Tissue Expander in Yemeni Post Burn Patients, Post Traumatic Scars, and Defects Management
Tissue expansion effectively corrects post-burn and traumatic scars with high patient satisfaction and low complications.
research Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects
Combining genetic models helps improve heat tolerance in beef cattle.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research Induction of Pluripotent Stem Cells Via Wnt Signaling Pathway.
Activating Wnt signaling improves the efficiency and safety of creating stem cells.
research Warty Dyskeratoma Involving Two Adjoining Follicles
A rare scalp tumor involving two hair follicles was successfully removed with surgery, with no recurrence after 7 months.
research Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management
A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
research Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature
A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
research Polycystic ovary syndrome is associated with anogenital distance, a marker of prenatal androgen exposure
Women with polycystic ovary syndrome tend to have a longer anogenital distance.