Search
for

    Sort by

    Research 30 of 184

    1. Ichthyosis Follicularis With Alopecia and Photophobia Archives of dermatology · 1985 · 75 citations
    2. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    3. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin 2005 · 40 citations
    4. Ichthyosis follicularis with alopecia and photophobia in a mother and daughter 2000 · 36 citations
    5. A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation Journal of human genetics · 2010 · 14 citations
    6. Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin Indian journal of paediatric dermatology · 2015 · 3 citations
    7. Ichthyosis follicularis with alopecia and photophobia (IFAP): late diagnosis in 18‐year‐old man International Journal of Dermatology · 2011 · 2 citations
    8. Ichthyosis follicularis with alopecia and photophobia syndrome with coexisting palmoplantar keratoderma treated with acitretin International journal of trichology · 2022 · 1 citations
    9. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    10. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    11. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    12. 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
    13. Inherited ichthyosis: Syndromic forms Journal of dermatology · 2016 · 47 citations
    14. Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. Journal of medical genetics · 1992 · 41 citations
    15. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    16. Séquelles cutanéomuqueuses et oculaires des SJS et de Lyell Annales de Dermatologie et de Vénéréologie · 2010 · 13 citations
    17. Photosensitization Outbreak in Shorthorn Calves in Missouri Journal of Veterinary Diagnostic Investigation · 1991 · 11 citations
    18. Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin Genetics in medicine · 2018 · 10 citations
    19. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    20. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
    21. Hypotrichosis with juvenile macular dystrophy International Journal of Trichology · 2018 · 4 citations
    22. 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
    23. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    24. 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
    25. Letter from Brisbane [Letters to editor] Journal of Human Genetics · 2011
    26. Ocular Manifestations in Avitaminosis Clinical and Experimental Optometry · 1940
    27. Keratosis follicularis spinulosa decalvans in a family Journal of the American Academy of Dermatology · 2008 · 32 citations
    28. Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This? Pediatric dermatology · 2005 · 5 citations
    29. Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant Human Genome Variation · 2026
    30. Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study Journal of dermatology · 2023