research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
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research Beyond Clinical Efficacy: A Literature Review on the Safety Challenges of Isotretinoin Therapy
Isotretinoin can safely and effectively control acne with proper risk management and monitoring.
research Comprehensive Administrative and Engineering Strategies for Radiation Protection and Occupational Health Safety
Implementing safety strategies is crucial to prevent radiation-related health issues.
research Skin Graft
Skin grafting is a key procedure for repairing skin defects, with the success depending on the right graft choice, donor site management, and aftercare.
research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Certain genetic changes in the LSS gene cause a rare skin and hair condition.
research Síndrome postfinasterida y disfunción eréctil. Caso clínico y revisión de la literatura
Post-finasteride syndrome can cause sexual and systemic side effects, and patients should be informed about these risks.
research Autosomal recessive congenital ichthyosis due to PNPLA 1 mutation in a golden retriever–poodle cross‐bred dog and the effect of topical therapy
Long-term oral and topical treatments improved skin condition in a goldendoodle with a genetic disorder.
research Versatile Use of Submental Tissue for Reconstruction of Perioral Soft Tissue Defects
Submental tissue is good for repairing mouth area skin with minimal scarring and good cosmetic results.
research The Autoimmune Regulator (AIRE), Which Is Defective in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients, Is Expressed in Human Epidermal and Follicular Keratinocytes and Associates With the Intermediate Filament Protein Cytokeratin 17
AIRE protein, defective in APECED patients, is found in skin and hair cells and interacts with cytokeratin 17.
research Deletion of hypoxia-inducible factor prolyl 4-hydroxylase 2 in FoxD1-lineage mesenchymal cells leads to congenital truncal alopecia
Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
research Teratogenic effect of isotretinoin in both fertile females and males (Review)
Isotretinoin can cause serious birth defects and needs careful use, especially in pregnant women.
research Expanding the Cutaneous Spectrum of Nicolaides‑Baraitser Syndrome: Eczema and Generalized Hair Loss
Nicolaides-Baraitser syndrome may cause eczema and hair loss, needing early skin care and treatment.
research Characterization of an autoimmune condition associated with AEC syndrome
Controlling Tslp can improve health in AEC syndrome patients.
research Trichoscopy in Unveiling the Triad of Netherton Syndrome
Trichoscopy helps accurately diagnose Netherton syndrome, often mistaken for atopic dermatitis.
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 Testicular Steroidogenesis
Genetic defects in testosterone production can cause hormonal and developmental disorders, and more research is needed to understand androgen regulation and develop safer treatments.
research Congenital Zinc Deficiency from Mutations of theSLC39A4Gene as the Genetic Background of Acrodermatitis Enteropathica
A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
research Schmallenberg virus infection suspected in a calf born to an imported heifer
A calf in Scotland likely had Schmallenberg virus from its mother.
research Genetics of Inherited Ichthyoses and Related Diseases
New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
research Transgenic Kallikrein 14 Mice Display Major Hair Shaft Defects Associated with Desmoglein 3 and 4 Degradation, Abnormal Epidermal Differentiation, and IL-36 Signature
Mice with extra human KLK14 had hair and skin problems, including weaker cell bonds and inflammation, linked to Netherton syndrome.
research Disorders of Keratinization
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
research The expanding significance of keratin intermediate filaments in normal and diseased epithelia
Keratin proteins are increasingly recognized as important for cell health and are linked to many diseases.
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 Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Half-siblings with a rare skin condition improved with treatment for a fungal infection, but hair loss remained.
research Scaling dermatosis in three dogs associated with abnormal sebaceous gland differentiation
Three dogs with a rare skin condition improved with treatment.
research Commonly associated disorders with complete scalp alopecia in early childhood: A review
Six genetic conditions are often linked to complete scalp hair loss in children.
research Aplasia cutis congenita on lumbosacral area
A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Deficient Plakophilin-1 Expression Due to a Mutation in PKP1 Causes Ectodermal Dysplasia-Skin Fragility Syndrome in Chesapeake Bay Retriever Dogs
A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
research Bald thigh syndrome in sighthounds—Revisiting the cause of a well-known disease
Bald thigh syndrome in sighthounds is caused by structural defects in hair shafts due to downregulated genes and proteins.