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    Glossary Genodermatosis

    inherited skin disorder caused by genetic mutations

    Genodermatosis refers to a group of inherited skin disorders caused by genetic mutations. These conditions can affect the skin, hair, and nails, and often present from birth or early childhood. Examples include conditions like epidermolysis bullosa and neurofibromatosis.

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    Research 30 of 367

    1. Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities 2016 · 36 citations
    2. Di-Genic Inheritance in Genodermatoses: Insights from Two Consanguineous Cases in a Reference Lebanese Center within the Middle East and North Africa (MENA) Region Dermatology Practical & Conceptual · 2025
    3. Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm Journal of Investigative Dermatology · 2011 · 26 citations
    4. Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses Archives of Dermatology · 2001 · 23 citations
    5. Corneodesmosomes and corneodesmosin: from the stratum corneum cohesion to the pathophysiology of genodermatoses European Journal of Dermatology · 2011 · 83 citations
    6. Male fertility and skin diseases Reviews in Endocrine and Metabolic Disorders · 2016 · 12 citations
    7. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis 2020 · 8 citations
    8. Generalized Congenital Hypotrichosis in a Female Rottweiler Veterinary Dermatology · 1993 · 6 citations
    9. A 40-Year-Old Woman With Facial Papules and Flank Pain Archives of Pathology & Laboratory Medicine · 2006 · 2 citations
    10. Vulvovaginal involvement in Netherton syndrome: A case report JAAD case reports · 2024
    11. Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds Journal der Deutschen Dermatologischen Gesellschaft · 2019
    12. Painful thickened skin on the soles of the feet JAAD case reports · 2022
    13. Botulinum Toxin Off-Label Use in Dermatology: A Review Skin appendage disorders · 2017 · 53 citations
    14. Harnessing neuroendocrine controls of keratin expression: A new therapeutic strategy for skin diseases? BioEssays · 2014 · 26 citations
    15. Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin Biochemistry and Cell Biology · 1995 · 25 citations
    16. Spectrum of skin diseases in Yemen (Hajjah and adjacent region) International Journal of Dermatology · 2004 · 21 citations
    17. Analysis of pediatric dermatology inpatient consultations in a pediatric teaching hospital Archivos Argentinos De Pediatria · 2017 · 10 citations
    18. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    19. Pediatric dermatoses pattern at a Brazilian reference center Jornal de Pediatria · 2020 · 6 citations
    20. Case Report: A case of Rothmund–Thomson syndrome-like phenotype with an ANAPC1 variant of uncertain significance and observed hair improvement Frontiers in Medicine · 2026
    21. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    22. Clouston’s syndrome: a rare case report International Journal of Research in Dermatology · 2020
    23. Keratin gene mutations in disorders of human skin and its appendages Archives of Biochemistry and Biophysics · 2010 · 185 citations
    24. The Human Type II Keratin Gene Cluster on Chromosome 12q13.13: Final Count or Hidden Secrets? 2005 · 9 citations
    25. Treatment of monilethrix with oral minoxidil JAAD case reports · 2016 · 37 citations
    26. Generalized multiple eruptive milia in an infant – An unusual presentation Indian journal of paediatric dermatology · 2022
    27. Keratosis Follicularis Spinulosa Decalvans: Diagnosis and Therapeutic Evaluation. Journal of clinical case reports · 2015 · 1 citations
    28. A newborn presenting with congenital blistering International Journal of Dermatology · 2004 · 7 citations
    29. DERMATOLOGIC DISEASES AND PROBLEMS OF WOMEN THROUGHOUT THE LIFE CYCLE International Journal of Dermatology · 1995 · 18 citations
    30. Molecular basis of congenital atrichia in humans and mice. PubMed · 1999 · 15 citations