"There appeared lately at the clinic for cutaneous diseases a patient whose skin presented the following extraordinary manifestations: the whole surface, with the exception of the palms and soles, the genitals, and some portions of the flexor aspects of the arms, was thickly occupied by a variety of lesions which may be thus analyzed: minute papules, medium papules, larger papules, elongated, horny papules, and smooth, flattened blackish papules (bumps, bumps and more bumps). There is a nearly universal pruritis (itching) which leads to almost incessant violent scratching. An intolerable stench is given off by the patient, especially from the lower legs, characteristic of decomposing epithelium. The clothes are saturated with it. The horrible odor emanating from the skin has lately kept him from free intercourse with his fellow-men. What disease do all these extraordinary and multiple manifestations represent? It is easy to trace the intimate connection between the various lesions by their progressive development from the minute primary papule to the largest masses of horn-like concretion. The disease is then, evidently, in all its phases a keratosis, or modified cornification of the epithelial layers. It is also evident that its starting point is in or about the follicular openings. The anatomical characteristics suggest the adoption of the more appropriate name: keratosis follicularis."
—excerpted from James White, 1889 (ref. 1)
Access optionsAccess options
Subscribe to Journal
Get full journal access for 1 year
only $18.75 per issue
All prices are NET prices.
VAT will be added later in the checkout.
Rent or Buy article
Get time limited or full article access on ReadCube.
All prices are NET prices.
Shelley, W.B. & Crissey, J.T. Classics in Clinical Dermatology with Biographical Sketches 224–227; 396–404 (Charles C. Thomas Publishers, Springfield, 1970).
Burge, S.M. & Wilkinson, J.D. J. Am. Acad. Dermatol. 27, 40–50 (1992).
Sakuntabhai, A. et al. Nature Genet. 21, 271– 277 (1999).
Burge S. Br. J. Dermatol. 131, 153–159 (1994).
Corden, L.D. & McLean, W.H.I. Exp. Dermatol. 5, 297–307 (1996).
Christiano, A.M. Trends Genet. 13, 227–233 (1997).
Roop, D. Science 267, 474–475 (1995).
McGrath, J.A. et al. Nature Genet. 17, 240– 244 (1997).
Armstrong, D.K.B. et al. Hum. Mol. Genet. 8, 143– 148 (1999).
Pulkkinen, L. & Uitto, J. Exp. Dermatol. 7, 46–64 (1998).
Koch, P.J. et al. J. Cell Biol. 137, 1091– 1102 (1997).
Kelsell, D.P. et. al. Nature 387, 80–83 (1997).
Richard, G. et al. Nature Genet. 20, 366– 369 (1998).
Munro, C.S., Mastana, S.S. & Papiha, S.S. Ann. Genet. 35, 157– 160, (1992).
Bashir, T. et al. Hum. Mol. Genet. 2, 1937– 1939 (1993).
Craddock, N. et al. Hum. Mol. Genet. 2, 1941– 1943 (1993).
Monk, S. et al. Am. J. Hum. Genet. 62, 890– 903 (1998).
Missiaen, L. et al. Pharmacol. Ther. 50, 191– 232 (1991).
Odermatt, A. et al. Nature Genet. 14, 191– 194 (1996).
Watt, F.M., Mattey, D.L. & Garrod, D.R. J. Cell Biol. 99, 2211– 2215 (1984).
Baden, H.P. in: Pathophysiology of Dermatologic Diseases (eds: Soter, N.A. & Baden, H.P.) 131–158 (McGraw-Hill, New York, 1991).
Burge, S. Br. J. Dermatol. 131, 153–158 (1994).
About this article
A Darier disease mutation relieves kinetic constraints imposed by the tail of sarco(endo)plasmic reticulum Ca2+-ATPase 2b
Journal of Biological Chemistry (2018)
Postnatal regulation of X,K-ATPases in rat skin and conserved lateroapical polarization of Na,K-ATPase in vertebrate epidermis
Experimental Dermatology (2013)
Journal of Investigative Dermatology (2006)
Annales de Dermatologie et de Vénéréologie (2006)
The type 4 subfamily of P-type ATPases, putative aminophospholipid translocases with a role in human disease
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (2005)