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    Glossary Ichthyosis Follicularis

    rare genetic disorder causing dry, scaly skin and follicular bumps

    Ichthyosis Follicularis is a rare genetic skin disorder characterized by the presence of dry, scaly skin and the formation of spiny follicular projections. These projections are due to abnormal keratinization around hair follicles, leading to rough, raised bumps on the skin. This condition often appears at birth or in early childhood and can be associated with other symptoms like alopecia (hair loss) and photophobia (sensitivity to light).

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    1. Follicular ichthyosis 1984 · 17 citations
    2. Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin International journal of trichology · 2022 · 1 citations
    3. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    4. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    5. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    6. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    7. Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin Indian journal of paediatric dermatology · 2015 · 3 citations
    8. Ichthyosis Follicularis With Alopecia and Photophobia Archives of dermatology · 1985 · 75 citations
    9. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter 2000 · 36 citations
    10. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    11. An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery Clinical Cosmetic and Investigational Dermatology · 2025
    12. Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man International Journal of Dermatology · 2011 · 2 citations
    13. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin 2005 · 40 citations
    14. A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation Journal of human genetics · 2010 · 14 citations
    15. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
    16. Ichthyosis fetalis in a cross‐bred lamb Veterinary dermatology · 2017 · 1 citations
    17. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
    18. Inherited ichthyosis: Syndromic forms Journal of dermatology · 2016 · 47 citations
    19. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    20. Biochemical examination of fetal skin biopsy specimens obtained by fetoscopy: Use of the method for analysis of keratins and filaggrin Prenatal Diagnosis · 1986 · 7 citations
    21. Skin diseases in the alpaca (<i>Vicugna pacos</i>): a literature review and retrospective analysis of 68 cases (Cornell University 1997–2006) Veterinary Dermatology · 2010 · 46 citations
    22. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    23. Congenital and Hereditary Skin Diseases 2018
    24. Disorders of Keratinization 2014
    25. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    26. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    27. Letter from Brisbane [Letters to editor] Journal of Human Genetics · 2011
    28. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    29. Manifest hair repigmentation associated with etretinate therapy The Journal of Dermatology · 2016 · 9 citations
    30. Lanceolate hair-J (<i>lah<sup>J</sup> </i> ): A mouse model for human hair disorders Experimental dermatology · 2000 · 37 citations