Nature Genetics
21, 252 - 253 (1999)
doi:10.1038/6758
Bumps and pumps, SERCA 1999Monica Peacocke1
& Angela M. Christiano1, 21
Department of Dermatology, Columbia University,
630 West 168th Street, New York, New York
10032, USA. 2
Department of Genetics and Development, Columbia University
, 630 West 168th Street, New York,
New York 10032, USA.
amc65@columbia.edu
"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)
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