Keratosis follicularis spinulosa decalvans

Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare, X-linked, genodermatosis disorder characterized by keratotic follicular papules, progressive cicatricial alopecia, and associated with eye symptoms. It was first described by Macleod in 1909.

Symptoms and Signs

KFSD is characterized by the presence of keratotic follicular papules, progressive cicatricial alopecia, and occasionally associated with photophobia, corneal dystrophy, and other ocular abnormalities. The onset of the disease usually occurs in infancy or early childhood, but late-onset forms of the disease have also been reported.

Causes

KFSD is a genetic disorder that is inherited in an X-linked recessive manner. The exact genetic mutation that causes KFSD is currently unknown, but it is believed to involve a defect in the keratinization process of the hair follicle.

Diagnosis

The diagnosis of KFSD is primarily based on clinical findings. A skin biopsy may be performed to confirm the diagnosis. Genetic testing may also be useful in confirming the diagnosis and for genetic counseling purposes.

Treatment

There is currently no cure for KFSD. Treatment is symptomatic and may include topical keratolytics, retinoids, and emollients. In severe cases, systemic retinoids may be used. Regular follow-up with an ophthalmologist is recommended for those with ocular involvement.

Prognosis

The prognosis of KFSD is variable. Some individuals may have mild symptoms and a relatively normal life expectancy, while others may experience severe symptoms and complications such as progressive hair loss and vision loss.

See Also

• Genodermatosis
• Alopecia
• Keratosis

External Links

• National Organization for Rare Disorders (NORD) - Keratosis Follicularis Spinulosa Decalvans
• Genetics Home Reference - Keratosis Follicularis Spinulosa Decalvans

Keratosis follicularis spinulosa decalvans Resources
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