Keratosis follicularis

The establishment of quantitative methods for the determination of vitamins in body fluids and tissues by microbiological assay techniques should stimulate the search for the significance of vitamins in disease, not only in nutritional deficiency, but in the much wider field of all metabolic disturbances. Functional vitamin deficiencies are produced by malabsorption, by inhibitors of the vitamin function through products of the body, and particularly through drugs and other toxic substances. Vitamin deficiencies may be relative deficiencies whenever an individual s metabolism is deranged so as to require enhanced quantities of a given vitamin to cure or to counteract certain symptoms as, e.g., in Darier s disease (keratosis follicularis) (P2a). 

P2a. Peck, S. M., Chargin, L., and Sobotka, H., Keratosis follicularis (Darier s disease). A vitamin A deficiency disease. Arch. Dermatol, and Syphilol. 43, 223-229 (1941). 

Darier s disease (DD)(MIM 124200) or Darier-White s disease (also referred as keratosis follicularis) is a rare autosomal dominant disease, first described by Darier and White in 1889. DD affects both sexes and all ethnic groups, with a prevalence estimated between 1 in 26 300 and 1 in 100,000 in different countries (Godic et at., 2005), (Tavadia et al., 2002), (Wilkinson, 1977) (Cooper and Burge, 2003 Svendsen and Albrecten, 1959). Penetrance of the disease is complete, and expression is highly variable between and within affected families. 

Craddock, N., Owen, M., Burge, S., Kurian, B., Thomas, P., and McGuffin, P., 1994, Familial cosegregation of major affective disorder and Darier s disease (keratosis follicularis). Br J Psychiatry, 164 ... 

Waisman, M., 1960, Verruciform manifestations of keratosis follicularis. Arch. Dermatol., 81 1-14. 

Darier disease (keratosis follicularis) is an autosomal dominant disorder of keratinization, which usually starts at puberty. Mutations in an endoplasmatic ATPase, which pumps calcium ions across membranes in keratinocytes, have been found to cause the disease.43... 

In a woman who had had keratosis follicularis (Darier s disease) since she was 16, the condition worsened when she was given lithium at age 50 (and improved when she switched to valproate) (417). 

People with a history or current outbreak of eczema or atopic dermatitis People with Darier disease (keratosis follicularis) are also at risk for eczema vaccinatum and should not receive the vaccine. 

These accomplishments represent the culmination of a decade of clinical and laboratory investigation into the therapeutic spectrum and the mechanisms of action of retinoids in the skin. This interest arose from the use of oral vitamin A as therapy for a variety of dermatoses for the past 40 years. This usage was based initially on the similarity between the follicular keratoses seen in vitamin A deficiency and those in previously treatment-resistant skin disorders, such as Darier s disease (keratosis follicularis) and pityriasis rubra pilaris. Vitamin A deficiency thus provides a conceptual link in understanding how retinoids may be effective as therapy for a wide range of dermatologic disorders. 

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