Keratosis Follicularis Spinulosa Decalvans: A Family Study of Seven Male Cases and Six Female Carriers

    January 1992 in “ Journal of medical genetics ”
    Loes D. M. van Osch, Arnold P. Oranje, F. M. Keukens, Pieter Vader, E. Veldman
    TLDR The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
    Keratosis follicularis spinulosa decalvans (KFSD) is a rare X-linked disease characterized by follicular hyperkeratosis and corneal dystrophy. In a study of 7 male patients and 6 female carriers, males exhibited prominent features such as follicular hyperkeratosis, scarring alopecia, absence of eyebrows and eyelashes, corneal dystrophy with photophobia, and high cuticles on fingernails. Female carriers showed milder symptoms, including dry skin, minimal follicular hyperkeratosis, mild hyperkeratosis of the soles, and mild corneal dystrophy without photophobia.
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