Keratosis follicularis spinulosa decalvans
Keratosis Follicularis Spinulosa Decalvans
Keratosis Follicularis Spinulosa Decalvans (pronunciation: keh-rah-toh-sis foh-lick-yoo-lair-is spin-yoo-loh-sah deh-kal-vans) is a rare, genetic skin disorder characterized by the presence of hard, spiny bumps around hair follicles, and progressive hair loss.
Etymology
The term is derived from the Greek words keras (horn), folliculus (small bag), spinula (small spine), decalvans (balding).
Symptoms
The primary symptoms of Keratosis Follicularis Spinulosa Decalvans include keratosis pilaris (hard, small bumps around hair follicles), alopecia (hair loss), and photophobia (sensitivity to light).
Causes
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in the MBTPS2 gene. This gene provides instructions for making an enzyme that is involved in the regulation of various cellular processes, including the response to stress and the regulation of lipid metabolism.
Diagnosis
Diagnosis of Keratosis Follicularis Spinulosa Decalvans is based on the clinical symptoms, detailed patient history, and confirmed by genetic testing.
Treatment
Treatment of Keratosis Follicularis Spinulosa Decalvans is symptomatic and supportive, and may include topical creams to soften the skin, antibiotics to treat skin infections, and measures to protect the eyes from light.
Related Terms
External links
- Medical encyclopedia article on Keratosis follicularis spinulosa decalvans
- Wikipedia's article - Keratosis follicularis spinulosa decalvans
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