follicular hyperkeratosis

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.

Genetics

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
Treatment
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

References
Article Title: 

Keratosis Follicularis Spinulosa Decalvans, X-Linked

Clinical Characteristics
Ocular Features: 

There is alopecia of the eyelashes and eyebrows.  The skin of the eyelids is thickened often with an associated chronic blepharitis followed by entropion (ectropion sometimes mentioned).  Photophobia and keratitis with 'corneal degeneration' are also features but it is unknown whether these are primary or secondary to trichiasis from the eyelid deformities.  The corneal findings usually precede the scarring alopecia of the scalp.

Systemic Features: 

Onset is in childhood.  Thickening of skin is generalized especially in the neck, ears, and the extremities with marked involvement of the palms and soles, especially in the calcaneal regions.  Scalp hair may be sparse, often in a streak pattern.  The follicles are inflamed and hyperkeratotic resulting in scarring alopecia.  Carriers have been reported to have dry skin with mild follicular hyperkeratosis and more extensive involvement of the soles.

Genetics

This is a rare disorder with genetic and clinical heterogeneity.  The majority of cases seem to be inherited in an X-linked recessive pattern secondary to mutations in the SAT1 gen located at Xp22.1. 

However, multigenerational families with male to male transmission have also been reported suggesting autosomal dominant inheritance (KFSD; 612843).  However, no associated mutations or loci have been reported for this condition.

 

Pedigree: 
Autosomal dominant
X-linked recessive, carrier mother
X-linked recessive, father affected
Treatment
Treatment Options: 

Retinoids reduce the inflammatory component and lead to cessation of the scalp alopecia.  A decrease in photophobia has also been reported but the clinical basis for this is unknown.

References
Article Title: 

Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M. Gene dosage of the spermidine/spermine N(1)-acetyltransferase ( SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum Genet. 2002 Sep;111(3):235-41.

PubMed ID: 
12215835
Subscribe to RSS - follicular hyperkeratosis