OMIM ID:
Keratosis Follicularis Spinulosa Decalvans, AD
Alternate Names
Defective Genes
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.
Genetics
Inheritance
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.
Pedigree
Autosomal dominant
Autosomal dominant disorders require only one mutation for the disease to be expressed. Since an affected parent has two chromosomes, only one of which has the mutant gene, parents can expect that half (50%) of their children will receive that one and inherit the disease. It is common for individuals that inherit the mutation, however, to not have evidence of the disease (nonpenetrance).
Autosomal dominant inheritance leads to a vertical pattern of transmission