Keritosis Follicular Spinulosa Decalvans, AD
Patient Information
Characteristics
Background and History
This is a rare inherited skin disease for which no gene change has yet been found.
Clinical Correlations
Young children often have exceptionally red cheeks and eyebrows and hair may be sparse. The eyebrows are thin and may have unusual redness as well. Eyelashes are sparse. Sensitivity to light can be a lifelong issue and the eyes can seem red and inflamed.
Hair loss is progressive and older individuals have almost no hair (alopecia). The skin feels rough most notably on the trunk and the extremities. Hair follicles can become infected particularly on the scalp and neck areas. The enamel of the teeth is thinned and dental caries are common. The toenails are often abnormal.
Genetics
Inheritance
Multigenerational pedigrees consistent with autosomal dominant inheritance have been reported with vertical transmission of this skin disorder. Parents with this condition can expect it to appear in each of their children with a 50% probability.
However, no DNA change (mutation) has been found.
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
Diagnosis and Prognosis
The skin and hair changes may be present at birth or in early childhood. Dermatologists and pediatricians are likely to collaborate in the diagnosis and care.
Dental caries need prompt attention. No effective treatment for the skin and hair problems have been found. Nothing is known regarding longevity.
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