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.
    The document reports on a family study of Keratosis follicularis spinulosa decalvans (KFSD), an X-linked disease, involving seven male patients and six female carriers. The study focused on the dermatological and ophthalmic markers of KFSD. In male patients, the disease manifested as follicular hyperkeratosis, hyperkeratosis of the soles' calcaneal regions, scarring alopecia of the scalp, loss of eyebrows and eyelashes, and corneal dystrophy with photophobia. An additional symptom identified was high cuticles on the fingernails, which had not been previously described. Female carriers exhibited milder symptoms, including dry skin, minimal follicular hyperkeratosis, mild hyperkeratosis of the soles, and in one case, mild corneal dystrophy without photophobia.
    Discuss this study in the Community →

    Cited in this study

    3 / 3 results

    Related

    2 / 2 results