Keratosis Follicularis Spinulosa Decalvans, AD

Clinical Characteristics
Ocular Features: 

This genodermatosis has signs and symptoms beginning in childhood.  Photophobia is a prominent symptom.  The eyebrows and eyelashes are thin and sparse.  Recurrent blepharitis and keratitis are often present.

Systemic Features: 

The scalp is often dry and scaly.  Scalp alopecia begins sometime in the first two decades of life and becomes a major complaint by the third or fourth decade.  The face and especially the cheeks are often erythematous.  The scalp can have multiple follicular pustules which are most prominent in the occipital and nuchal areas.  Follicular keratotic papules are often located on the trunk and extensor areas of the limbs.  Histology of scalp skin biopsies show epidermal hyperplasia and an extensive perifollicular inflammatory infiltrate.

Enamel hypoplasia result in multiple and recurrent caries and loss of teeth.  The nails are often dystrophic.


This is likely an autosomal dominant disorder based on the transmission pattern of several reported families but no locus or mutation has been reported.

There is also an X-linked form of Keratosis Follicularis Spinulosa Decalvans (KFSDX) (308800) which is more common.

Treatment Options: 

Dental surveillance and treatment are important.  Ocular lubrication can be helpful in severe cases and ophthalmic topical antibiotics may be useful in treatment of blepharitis and keratitis.Clinica

Article Title: 


Castori M, Covaciu C, Paradisi M, Zambruno G. Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. Eur J Med Genet. 2009 Jan-Feb;52(1):53-8.

PubMedID: 18984066

Bellet JS, Kaplan AL, Selim MA, Olsen EA. Keratosis follicularis spinulosa decalvans in a family. J Am Acad Dermatol. 2008 Mar;58(3):499-502.

PubMedID: 18280351