Keratosis Follicularis Spinulosa Decalvans: What Syndrome Is This?

    March 2005 in “ Pediatric dermatology ”
    Mary Garman, Janna Nunez‐Gussman, Denise Metry
    TLDR Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
    The article "Keratosis Follicularis Spinulosa Decalvans: What Syndrome Is This?" discussed the clinical and genetic characteristics of Keratosis Follicularis Spinulosa Decalvans (KFSD), a rare genetic disorder characterized by follicular hyperkeratosis, progressive scarring alopecia, and photophobia. The study highlighted the genetic heterogeneity of KFSD, with evidence pointing to X-linked inheritance patterns. The authors reviewed previous cases and genetic analyses, emphasizing the need for further research to refine gene localization and understand the molecular mechanisms underlying the syndrome. The paper also discussed various therapeutic approaches, though many were found to be only partially effective.
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