XERODERMA PIGMENTOSUM³

Synonyms.—Angioma pigmentosum atrophicum (Taylor); Dermatosis Kaposi
(Vidal); Atrophoderma pigmentosum (Crocker); Melanosis lenticularis progressiva
(Pick); Liodermia essentialis cum melanosi et telangiectasia (Neisser); Lentigo maligna
(Piffard); Epitheliomatose pigmentaire (Besnier).

Definition.—A malignant disease, usually developing in early
life, characterized primarily by freckle-like spots, especially upon ex­
posed surfaces, followed by telangiectases, atrophic changes, angiomatous
and verrucous lesions, with increased pigmentary deposit, and finally,
generally after some years, by epitheliomatous growths and fatal ending.

This malady was not known until Kaposi described it in 1870, but
since then new cases have been observed, so that, at the present time,
over 80 are on record. In this country cases have been reported by Tay­
lor, Duhring, White, Brayton, Hutchins, A. H. Bowen, and others.

Symptoms.—This rare disease begins almost invariably in the
first year or two of life, and probably most frequently at the age of

¹ Lassar, Berlin, klin. Wochenschr., 1893, P- 83.

²  Pusey, “Treatment of Malignant Growths of the Skin from a Dermatological
Standpoint,” Jour. Amer. Med. Assoc, 1910, lv, p. 1611.

³ Literature: Kaposi, Wien. med. Jahrbücher, 1882, p. 619 (with 4 colored plates
showing 4 patients, and 3 histologic cuts); and Wien. med. Wochenschr., 1885, p. 1334
(case demonstration, with brief report and a tabulation of 38 cases); Taylor, Med. Record,
Mar. 10, 1888 (detailed history of 7 cases, extending over fourteen years, and tabulated
history and abstract (including his 7) of 40 cases to date); Archambault, “Dermatose
de Kaposi,” These de Bordeaux, 1890 (review of cases); Lukasiewicz, Archiv, 1895,
vol. xxxiii, p. 37 (with 8 excellent histologic cuts). These several papers cover 73 cases
recorded to date. Phillips, St. Bartholomew's Hosp. Reps., 1895, P. 211; West (same
case as the preceding), Brit. Jour. Derm., 1896, p. 45, and 1898, p. 57; Crocker, ibid.,
1896, p. 442 (case demonstration of one of his previously reported cases); Pringle,
ibid., 1897, p. 157 (case demonstration—patient aged three); Falcao, Trans. Third In-
ternat. Derm. Cong., London, 1896—abs. ref. in Jour. Cutan. Dis., 1897, p. 173 (re­
ported case of woman, aged eighty-eight, and refers to 3 others observed by him, aged
respectively seventy-two, eighty-nine, and ninety—these are rather suggestive of cases
of atrophia senilis); Jamieson, Brit. Jour. Derm., 1898, p. 325 (case demonstration,
girl aged six—a younger sister also showing suspicious freckling); Bareldt, Brit. Med.
Jour., 1898, ii, p. 1342 (brief report; patient aged two and a half); Bronson, Jour.
Cutan. Dis., 1899, P- 572 (case demonstration—girl of eight, first evidence when six
months old); Okamura, Archiv, 1900, vol. li, p. 87 (report especially as to blood ex­
aminations of 3 cases); Hutchins, Jour. Cutan. Dis., 1893, p. 402; Brayton, ibid., 1892,
p. 129 (with colored plate), and Jour. Amer. Med. Assoc, April 29, 1899 (3 cases in
same family); A. H. Bowen, ibid. (1 case). The case by Duhring, Amer. Jour. Med.
Sci., Oct., 1878, and 2 (brother and sister) by J. C. White, Jour. Cutan. Dis., 1885,
p. 353, are included in Taylor’s summary and review; Francoz, Contribution a l'etude
du Xeroderma pigmentosum, These, Lyon, 1905 (complete bibliography); Nicolas and
Favre, Annales, 1906, p. 536 (clinical and histologic; 2 cases, 1 a Woman aged seventy-
one); W. B. Adams, Jour. Cutan. Dis., 1907, p. 473 (case report, with plate case illus­
tration; patient, young woman, aged nineteen); Hahn and Weik, Archiv, vol. lxxxvii, H.
2 and 3 (2 cases; and experimental investigation of the operation of different kinds of
light); Schonnefeld, Archiv, Oct., 1910, civ (benign case with short review of reported
benign cases; and literature references to 185 cases of the disease); Rouviere, An-
nales, Jan., 1910, p. 34 (in a family of four brothers and four sisters, three of the sis­
ters had the disease, and one death followed soon after glandular enlargements ap­
peared; an apparent cure in one case by x-ray treatment); C. J. White, Boston Med.
and Surg. Jour., May 4, 1911 (case report, patient Irish girl, aged II—first evidence
when several months old; histolog. exam.); Toyama, Japanische Zeitschr. f. Derma­
tologie und Urologie, May, 1912, abs. Jour. Cutan. Dis., 1912, p. 499 (finds a report
of 33 cases in Japanese literature; four of his own).

89O                                       NEW GROWTHS

five or six months. The first symptom noted consists of lentiginous
spots, scarcely, if at all, distinguishable from ordinary freckles. These
are more particularly observed in summer or after sun-exposure, and
especially upon exposed portions, the disease at this time being more or
less confined to the face, scalp, neck, upper shoulders, hand and forearms.
The scalp is not often affected, although sometimes scaly; in Duhring’s
case, however, this region was notably involved. These lesions may dis­
appear in winter, and reappear the following summer; this may occur
once or several times; finally they remain, and become more intensely
pigmented. Not infrequently an erythematous condition of the skin due
to sun- or wind-exposure precedes the appearance of the freckles. Shortly
following the first outbreak, or some months afterward, telangiectases
are also noted, and atrophic white spots begin to present, scattered
irregularly among the other lesions, and here and there with a tendency
toward coalescence, resulting in larger, rounded, or irregular cicatricial-
looking areas, upon which the skin is often smooth, shiny, and wrinkled,
and sometimes covered with thin scales; or the surface has a stretched,
glistening appearance, with, in some areas, a pinkish tinge, and with
the veins showing through. The sensibility of the atrophic areas is
sometimes lessened, and the sweat-glands are less active. The freckle-
like spots, which may be rounded or irregular in outline, gradually in­
crease in numbers and in places seem almost confluent; in others the
skin is noted to be considerably darkened in hue, with a freckle-like
accentuation here and there. The discoloration is most marked on ex­
posed parts, and primarily, as a rule, only there, but in some instances,
especially later on, covered surfaces may display a similar, blotchy pig­
mentation. The telangiectases are usually upon uncovered surfaces,
and consist of minute, red, pin­point to pea-sized spots, vascular twigs,
and, particularly later, small angiomatous growths. The vascular
lesions are more noticeable in the leukodermic areas.

The malady may thus continue for months or several years. As
a rule, sooner or later more positive changes ensue. Some of the pig-
mented spots become elevated, thickened, and papillomatous, and
when small, apparently similar to warts. At this stage, therefore, pig-
mented, freckle-like lesions, clearly pigmented areas, atrophic, thinned,
glistening, or slightly scaly, white, cicatricial spots and plaques, and
pit-like depressions, dark warts, and small, dark, warty-looking patches,
with scattered telangiectases and some small angiomatous growths,
are to be seen—for the most part on the face, ears, neck, upper chest,
hands, and forearms, although often to some extent upon other regions.
Ectropion and ulcerative keratitis are usual concomitants, and there
may also be cicatricial contraction about the nose and mouth. The
skin of the affected regions is more or less atrophic, somewhat thinned,
stretched-looking, and hence the term xeroderma, or parchment skin.
While the various lesions often arise without any dependence one upon
the other, in some, according to Kaposi, the pigment spot gradually
becomes telangiectatic, and later undergoes sclerosis, atrophy, and
whitening. Taylor thought the pigmentation followed upon the telan-
giectasis, but Duhring, White, and others recognized that, at least as to

XERODERMA PIGMENTOSUM

891

most early lesions, there was no interdependence. In some instances the
melanoderma has been more or less uniform and widespread. The
disease frequently remains relatively or completely quiescent for several
months or longer,—in one of Crocker’s cases for a period of six years,—
although, as a rule, there is a steady progress, with a tendency of the
sclerosed skin to undergo superficial ulceration. In most cases, after
several years or much longer,—ten to thirty years in some instances,—
the verrucous and angiomatous growths or the pigmented spots become
the seat of malignant changes of an epitheliomatous or sarcomatous
character,—so that ulcerating growths, one, several, or more, are added
to the already described symptom-complex. The patients, as the dis­
ease persists, usually become despondent and depressed, brooding over
the disfigurement and hopeless character of the malady.

The case thus progresses, and in rare instances there is malignant
involvement of the internal organs. As a rule, however, the process is
confined to the integument, sometimes involving the mucocutaneous
junctions, and in rare instances insignificant pigment or telangiectatic
lesions on the palpebral conjunctiva, lips, and buccal cavity are seen.
The general health of the patients, which is often apparently undisturbed
in the first years of the malady, now begins to suffer from the pain and
the drain of the malignant, ulcerative formations, and a condition of
marasmus or exhaustion is gradually engendered, and death finally
results, although this does not usually take place until many years after
the first appearance of the lesions. In rare cases, after some years, the
disease remains stationary. These malignant growths may be scanty
in number, or may constitute the chief feature at this time; as soon as
they present, the malady immediately becomes a grave one, as the end
generally ensues sooner or later. In some instances the tumor growths
appear, as in Falcao’s case, within a year or so after the first appearance
of the disease; in some the pigment spots may be scanty, as in Stern’s
case, and the tumor element conspicuous; in others the freckling may
remain the chief feature of the disease for many years before its serious
character develops. In Brayton’s case, at the time of his report, the
patient had already had the disease sixteen years without serious lesions
save the ectropion, and was still enjoying good general health. As a
rule, there are no subjective symptoms, although the ulcerative tumors
are sometimes quite painful.

Etiology.—The disease has its beginning, as a rule, in early life,
although in exceptional instances (Schwimmer, Riehl, Kaposi, Hutchins,
and a few others) it has first presented after the fifteenth year. It
apparently occurs in both sexes indifferently, and in those variously cir­
cumstanced. It is. frequently met with in two or more members of a
family, and in some instances there seemed a hereditary or congenital
predisposition. Five of Taylor’s 7 cases occurred in two Jewish families,
and 2 of his cases were cousins of 3 others. White’s 2 cases were brothers,
and a brother of Brayton’s 2 cases had died from the malady. Rouviére
had 3 sisters with the disease in a family of 4 boys and 4 girls. Ruder
had 7 brothers with the disease in a family of 13 children, and so might
be added the records of others, although, except Rüder’s observation, no

892

NEW GROWTHS

other instance of more than 3 cases in the same family has been recorded.
Some authors are inclined to consider the sunlight as a factor in starting
the pigmentary process; in support of this the observation has been made
(Lukasiewicz, Eulenberg, and others) that such children frequently
develop an erythema solare or similar condition after sun- or wind-
exposure. This is scarcely to be considered more than an accidental
element, and even with such an assumption there must be a peculiar
inherent susceptibility. The behavior of the disease and its frequent
occurrence in 2 or 3 members of a family have suggested a parasitic and
contagious cause, but the investigations of Funk and others in this direc­
tion have disclosed nothing tangible. Kaposi’s belief that the malady
has its basis upon a congenital formative and nutritive anomaly of the
vascular and pigmented portions of the papillary layer is somewhat
disparaged by the observation of its occasional beginning in later life.
In fact, beyond the significance of its family prevalence, nothing definite
is known as to its true etiology.

Pathology.—The disease is an atrophic degenerative process,
with, doubtless, an underlying neurosis and congenital tendency. That
does not, however, take us very far, and the accruing number of cases
now on record—over 80—do not seem to have added much to our knowl­
edge of the subject. The oligocythemia shown by Okamura’s blood
investigations of 3 cases is, as he suggests, probably due to functional
skin impairment, resulting from the integumentary changes, and, there­
fore, of no special significance. The pathologic histology has been studied
by numerous observers (Kaposi, Crocker, Taylor, Vidal, Quinquaud,
Unna, Pollitzer,¹ and others), and discloses the usual changes which the
different lesions suggest. In fact, there is no distinctive characteristic,
the usual conditions² found in lentigo, atrophy, verruca, nævus pigmen-
tosus, papillomatous and malignant growths, being correspondingly
exhibited in the various lesions of the disease. French observers are
inclined to consider the malady of the nature of a pigmentary epithe-
lioma. Pollitzer states that in one section of a tumor growth examined
by him characters of epithelioma, sarcoma, myxoma, granuloma, etc,
with, however, the features of the first (epithelioma) predominating,
could be seen. As already observed, by some the vascular changes are
considered primary, by others as secondary.

Diagnosis.—A well-developed case—with the pigmentary spots,
telangiectases, atrophy, new growths, etc—can scarcely be mistaken
for any other affection. The earliest stage, with merely the freckle-
like lesions, probably is indistinguishable from ordinary freckles, although
the distribution over face, neck, shoulders, hands, and forearms might
suggest further observation. As a rule, these cases rarely come under
notice before the telangiectatic and atrophic tendencies have presented,

¹ Pollitzer, Jour. Cutan. Dis., April, 1892, gives a good résumé of the histologic
findings of the various investigators.

² Kaposi has given the different histologic phases in 9 cuts in his article in Twen­
tieth Century Practice, vol. v (“Diseases of the Skin”).

Councilman and Magrath, Jour. Med. Research, Oct., 1900, studied 2 fatal cases;
they found that the tumors did not penetrate below the corium, and that there were no
metastases, either lymph-nodes or internally.

SARCOMA CUTIS

893

and the malady is then generally readily recognized. Scleroderma, with
its accompanying pigmentation, sclerosis, and atrophy, might, if care­
lessly considered, be confounded with the disease, but the inception and
the extent and characters of xeroderma are wholly different from the
former. It could scarcely be confused with lupus or with macular leprosy.

Prognosis and Treatment.—The prognosis has been touched
upon sufficiently; the outlook is unfavorable, the delayed tumor forma­
tions indicating long duration, while their early appearance usually
foreshadows an early end.

No plan of treatment has yet been noted to have a favorable influence
upon the course of the disease. Arsenic, mercurials, potassium iodid,
cod-liver oil, etc, apparently have proved without result. The subcuta­
neous injections of arsenic in increasing dosage might be worthy of a
thorough and long-continued trial. The therapeutic management of
the disease is essentially palliative; protection against sun- and wind-
exposure is advisable. Ulcerative lesions often heal under mildly stimu­
lating antiseptic salves, or used conjointly with curetting; excision of
troublesome tumor growths is usually followed by healing. The eye
conditions require attention, a boric acid lotion applied freely and often
being the most satisfactory. By persistent care the patient is certainly
made more comfortable, epitheliomatous development possibly delayed
and life probably prolonged some years. Rouviére (loc. cit.) reports
an apparent cure in 1 case from x-ray treatment.

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