research Semidominant Inheritance in Epidermolytic Ichthyosis
Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
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research Case of epidermolytic ichthyosis (bullous congenial ichthyosiform erythroderma) with a novel L157P mutation in KRT10 complicated by hypercalcemia
A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
research Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis
Hypertrichosis (excessive hair growth) can help diagnose superficial epidermolytic ichthyosis.
research Highlights of Gene and Cell Therapy for Epidermolysis Bullosa and Ichthyosis
Gene and cell therapies are being developed to treat rare skin conditions like epidermolysis bullosa and ichthyosis.
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 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 Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis
A rare genetic deletion in the KRT1 gene causes unique skin symptoms in a family.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research KERATINS AND SKIN DISORDERS
Changes in keratin affect skin health and can lead to skin disorders like blistering diseases and psoriasis.
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 Inherited disorders of the skin in human and mouse: from development to differentiation.
Research on skin disorders in humans and mice has improved understanding of hair and skin development.
research The keratins and their disorders
Mutations in keratin genes cause cell fragility and various skin disorders.
research Congenital and Hereditary Skin Diseases
Bovines can have rare inherited skin diseases with specific symptoms like hair loss, fragile skin, and abnormal porphyrin buildup.
research Congenital and Hereditary Skin Diseases
Goats can have various genetic skin diseases affecting hair, skin, and thyroid function.
research Secondary Cicatricial and other Permanent Alopecias
The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
research Key Factors in the Complex and Coordinated Network of Skin Keratinization: Their Significance and Involvement in Common Skin Conditions
Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
research From molecular biology to therapeutics
The document discusses various skin disorders and new therapeutic approaches.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research LAMELLAR ICHTHYOSIS: ONE CASE REPORT
Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Management of congenital ichthyoses: European guidelines of care, part two
European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
research Recent advances in congenital ichthyoses
New genes linked to ichthyosis were found, but there's still no cure; treatment options are improving.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Prioritization of therapy uncertainties in congenital ichthyosis: results from a Priority Setting Partnership
The top research priorities for congenital ichthyosis include long-term side effects of oral retinoids, best topical treatments, and treatments for itch and hair loss.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Ichthyosis fetalis in a cross‐bred lamb
A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs
Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.