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    Glossary Keratosis Follicularis

    rare genetic skin disorder causing rough, warty papules and plaques

    Keratosis Follicularis, also known as Darier's Disease, is a rare genetic skin disorder characterized by the development of rough, warty papules and plaques, primarily in seborrheic areas such as the scalp, forehead, upper arms, chest, and back. It is caused by mutations in the ATP2A2 gene, which affects calcium regulation in skin cells, leading to abnormal keratinization and skin cell adhesion.

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    1. Keratosis Follicularis Spinulosa Decalvans Archives of Dermatology · 1983 · 54 citations
    2. Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. Journal of medical genetics · 1992 · 41 citations
    3. Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae Australasian Journal of Dermatology · 2005 · 37 citations
    4. Keratosis Follicularis Spinulosa Decalvans Associated with Acne Keloidalis Nuchae and Tufted Hair Folliculitis American Journal of Clinical Dermatology · 2008 · 35 citations
    5. Keratosis follicularis spinulosa decalvans in a family Journal of the American Academy of Dermatology · 2008 · 32 citations
    6. Keratosis follicularis spinulosa decalvans in a female Indian journal of dermatology, venereology, and leprology · 2011 · 17 citations
    7. Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V Frontiers in Genetics · 2021 · 6 citations
    8. KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP Archives of Dermatology and Syphilology · 1943 · 5 citations
    9. Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This? Pediatric dermatology · 2005 · 5 citations
    10. Substance P in keratosis follicularis spinulosa decalvans JAAD case reports · 2015 · 4 citations
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