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    Glossary Genodermatoses

    inherited skin disorders caused by genetic mutations

    Genodermatoses are a group of inherited skin disorders caused by genetic mutations. These conditions can affect the skin, hair, nails, and sometimes other organs, leading to a variety of symptoms such as abnormal pigmentation, blistering, or hair loss.

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    Research 30 of 326

    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. Botulinum Toxin Off-Label Use in Dermatology: A Review Skin appendage disorders · 2017 · 53 citations
    7. Harnessing neuroendocrine controls of keratin expression: A new therapeutic strategy for skin diseases? BioEssays · 2014 · 26 citations
    8. Overexpression of human keratin 16 produces a distinct skin phenotype in transgenic mouse skin Biochemistry and Cell Biology · 1995 · 25 citations
    9. Spectrum of skin diseases in Yemen (Hajjah and adjacent region) International Journal of Dermatology · 2004 · 21 citations
    10. Male fertility and skin diseases Reviews in Endocrine and Metabolic Disorders · 2016 · 12 citations
    11. Analysis of pediatric dermatology inpatient consultations in a pediatric teaching hospital Archivos Argentinos De Pediatria · 2017 · 10 citations
    12. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    13. Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis 2020 · 8 citations
    14. Pediatric dermatoses pattern at a Brazilian reference center Jornal de Pediatria · 2020 · 6 citations
    15. 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
    16. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    17. Painful thickened skin on the soles of the feet JAAD case reports · 2022
    18. Clouston’s syndrome: a rare case report International Journal of Research in Dermatology · 2020
    19. Generalized Congenital Hypotrichosis in a Female Rottweiler Veterinary Dermatology · 1993 · 6 citations
    20. A 40-Year-Old Woman With Facial Papules and Flank Pain Archives of Pathology & Laboratory Medicine · 2006 · 2 citations
    21. Vulvovaginal involvement in Netherton syndrome: A case report JAAD case reports · 2024
    22. Rothmund‐Thomson syndrome type 2 – a rare cause of chronic wounds Journal der Deutschen Dermatologischen Gesellschaft · 2019
    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. DERMATOLOGIC DISEASES AND PROBLEMS OF WOMEN THROUGHOUT THE LIFE CYCLE International Journal of Dermatology · 1995 · 18 citations
    29. A newborn presenting with congenital blistering International Journal of Dermatology · 2004 · 7 citations
    30. Molecular basis of congenital atrichia in humans and mice. PubMed · 1999 · 15 citations