Keratosis Follicularis Spinulosa Decalvans

Background and History: 

This is a rare disorder of the skin and eyes.  Only a few families have been reported.

Clinical Correlations: 

Onset of eye symptoms is usually in infancy or childhood and precedes the more generalized skin disease.  Loss of eyelashes and hair of the eyebrows and scalp occurs later secondary to inflammation of the hair follicles.  The skin of the neck, arms, eyelids, ears, palms and soles is thickened.  The eyelids become inflamed (blepharitis) causing scarring and distortion.  This can lead to corneal damage from the eyelashes rubbing against it which causes light sensitivity and loss of vision.  The inflammation of the scalp hair follicles leads to scarring and baldness, often in a streaky pattern.

Genetics: 

Familial cases usually follow an X-linked pattern in which only males are affected.  Carrier females may have minor signs and symptoms such as dry skin and thickening of the soles.  Rare families with an autosomal dominant pattern have also been reported.

Diagnosis and Prognosis: 

This disorder is usually diagnosed by ophthalmologists and/or dermatologists.  The visual problems may be severe if the cornea is extensively involved.  The loss of hair and the thickened skin impact cosmesis.  Retinoids (vitamin A derivatives) have proved beneficial in some patients with interruption of the balding process and a decrease in light sensitivity from the corneal disease.

Additional Information
Inheritance/Pedigree: 
Autosomal dominant
X-linked recessive, carrier mother
X-linked recessive, father affected