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$Unique_ID{BRK04094}
$Pretitle{}
$Title{Pemphigus}
$Subject{Pemphigus Hailey-Hailey Disease Benign Familial Pemphigus Benign
Chronic Familial Pemphigus Pemphigus Vulgaris Pemphigus Vegetans Pemphigus
Foliaceus Exfoliative Dermatitis Brazilian Pemphigus Foliaceus (Fogo Selvagem)
Pemphigus Erythematosus Pemphigus Herpetiformis Drug-Induced Pemphigus Bullous
Pemphigoid Darier Disease (Darier-White Disease, Keratosis Follicularis, DOC
22) Erythema Hyperkeratosis (Bullous type) Erythema Multiforme Epidermolysis
Bullosa Epidermolysis Bullosa Acquista Dermatitis Herpetiformis}
$Volume{}
$Log{}

Copyright (C) 1985, 1987, 1988, 1989, 1990, 1992 National Organization
for Rare Disorders, Inc.

44:
Pemphigus

** IMPORTANT **
It is possible that the main title of the article (Pemphigus) is not the
name you expected.  Please check the SYNONYMS listing to find the alternate
name and disorder subdivisions covered by this article.

Synonyms

     Hailey-Hailey Disease
     Benign Familial Pemphigus
     Benign Chronic Familial Pemphigus

Disorder Subdivisions:

     Pemphigus Vulgaris
     Pemphigus Vegetans
     Pemphigus Foliaceus
     Exfoliative Dermatitis
     Brazilian Pemphigus Foliaceus (Fogo Selvagem)
     Pemphigus Erythematosus
     Pemphigus Herpetiformis
     Drug-Induced Pemphigus

Information on the following diseases can be found in the Related
Disorders section of this report:

     Bullous Pemphigoid
     Darier Disease (Darier-White Disease, Keratosis Follicularis, DOC 22)
     Erythema Hyperkeratosis (Bullous type)
     Erythema Multiforme
     Epidermolysis Bullosa
     Epidermolysis Bullosa Acquista
     Dermatitis Herpetiformis

General Discussion

** REMINDER **
The Information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Pemphigus is a group of rare autoimmune skin disorders characterized by
the development of blisters in the outer layer of the skin (epidermis) and
mucous membranes (thin moist layers that line the body's internal surfaces).
The location and type of blisters vary according to the type of Pemphigus.  If
left untreated Pemphigus can be a serious illness.

Symptoms

Blisters in the outer layer of the skin are common to all types of Pemphigus.
Blisters develop due to the destruction of the "cement" that holds cells
together (epidermal acantholysis) resulting in the separation of cells from
one another.  Soft (flaccid) blisters generally occur on the neck, scalp,
mucous membranes, and/or underarm (axillary) and groin areas (inguinal).
Most patients with Pemphigus have deposits of IgG (an immune system antibody
that defends against foreign substances) around the blistered areas (in the
epidermal cells called keratinocytes).  Antiepidermal antibodies directed
against skin cells are typically present in the fluid of the blisters.  The
diagnosis of Pemphigus requires microscopic examination of cells in the
blisters as well as detection of the IgG antibodies that characterize this
disease.

Pemphigus Vulgaris may begin with isolated blisters on the scalp, and
then in the mouth.  These may persist for several months and may be followed
by blistering of the esophagus, nose, rectum, and/or the membranes that line
the inner surfaces of the eyelids (conjunctiva).  The blisters are soft; they
break easily and heal poorly.  Pressure on the borders of blisters causes
them to spread.  Pressure on normal-looking skin can cause it to blister
(Nikolsky sign) in people with Pemphigus Vulgaris.

Pemphigus Vegetans is a variation of Pemphigus Vulgaris.  The blisters
are fast-growing and have large (hypertrophic) lesions that are usually
located in the groin (inguinal) and armpit (axillary) areas.

Pemphigus Foliaceus is less severe and a less common form of the
disorder.  Soft blisters typically occur close to the surface of the skin.
When they break, they ooze and become crusty, scaly, and susceptible to
infection.  Blisters may occur on the scalp, face, upper chest, and back; the
mucous membranes are usually not affected.  Small, horny plugs attached to
the undersurface of the affected skin also may be seen.

Another type of Pemphigus Foliaceus occurs in South America, particularly
Brazil and Colombia, and is called Fogo Selvagem.

When patients have symptoms of both Pemphigus Foliaceus and Systemic
Lupus Erythematosus, they are said to have Pemphigus Erythematosus.  Lupus,
also known as SLE, is an inflammatory disease of connective tissue.  (For
more information on this disorder, choose "Lupus" as your search term in the
Rare Disease Database.)

Pemphigus may also occur as a result of an adverse reaction to certain
drugs such as d-penicillamine and rifampin; symptoms usually resemble those
of Pemphigus Foliaceus rather than Pemphigus Vulgaris.  Some research
suggests that Pemphigus Herpetiformis is a subtle form of Pemphigus with its
own characteristic blisters.  However, blisters that form during a relapse
may resemble those of Pemphigus Foliaceus.

In Benign Familial Pemphigus (Hailey-Hailey Disease), recurrent blisters
are seen primarily on the neck, groin, and armpits.  Blisters may recur
because of sweating, skin infections, and exposure to extreme heat and/or
ultraviolet light.

Causes

Most forms of Pemphigus are generally considered to be autoimmune-related.
Autoimmune disorders are caused when the body's natural defenses against
invading organisms (antibodies, lymphocytes, etc.) mistakenly begin to attack
perfectly healthy tissue.

Benign Familial Pemphigus (Hailey-Hailey disease) is inherited as an
autosomal dominant trait.  Human traits, including the classic genetic
diseases, are the product of the interaction of two genes, one received from
the father and one from the mother.  In dominant disorders a single copy of
the disease gene (received from either the mother or father) will be
expressed "dominating" the other normal gene and resulting in the appearance
of the disease.  The risk of transmitting the disorder from affected parent
to offspring is fifty percent for each pregnancy regardless of the sex of the
resulting child.

Fogo Selvagem (Brazilian Pemphigus Foliaceus) is an autoimmune blistering
disorder that may be triggered by a substance transmitted through the bite of
blackflies.

Pemphigus may also occur following x-ray exposure or adverse reaction to
drugs such as d-penicillamine or rifampin.

Affected Population

Pemphigus affects males and females in equal numbers and is most common in
middle-aged and elderly people.  However, cases of children with Pemphigus
have been reported.  This disorder has been found in all ethnic groups and
races, but is more common in people of Jewish or Mediterranean ancestry.
Pemphigus occurs once in 100,000 people in the United States.  Fogo Selvagem
occurs in the central rural areas of Brazil that are heavily infested with a
species of blackfly.

Related Disorders

Symptoms of the following disorders can be similar to those of Pemphigus.
Comparisons may be useful for a differential diagnosis:

Bullous Pemphigoid is a chronic mild skin disorder that generally affects
elderly people.  It is characterized by large firm fluid-filled blisters
(bullous pemphoid) that heal quickly and typically disappear in several
months or years.  However they may recur later.  Early symptoms include
redness on the skin followed within weeks by the appearance of blisters.  The
mucous membranes are rarely affected by Bullous Pemphigoid.  (For more
information on this disorder, choose "Bullous Pemphigoid" as your search term
in the Rare Disease Database.)

Darier Disease (Darier-White Disease or Keratosis Follicularis) is a
progressive inherited skin disorder characterized by widespread firm elevated
lesions on the skin and mucous membranes; abnormal changes of the finger and
toe nails may also occur.  Symptoms usually begin with a sensation of itching
or burning on the skin, especially the scalp, forehead, face, neck, and back.
Firm, elevated spots (papules) appear and typically become large and
darkened; eventually these papules become scaly and crusty.  As these spots
enlarge, they may come together and form larger areas.  The symptoms of
Darier Disease tend to become more severe during periods of emotional stress
or with exposure to sunlight.  (For more information on this disorder, choose
"Darier" as your search term on the Rare Disease Database.)

Epidermolytic Hyperkeratosis (bullous type) is a rare hereditary skin
disorder characterized by the overgrowth of skin (hyperkeratosis) and an
abnormal redness of the skin (erythroderma).  The symptoms are present at
birth and may range from mild to severe.  The skin may appear "warty,"
blistered, and thick over most of the body, particularly in the skin creases
over joints.  The disorder can be detected before birth by amniocentesis
(microscopic examination of the fluid that surrounds the developing fetus).
(For more information on this disorder, choose "Epidermolytic Hyperkeratosis"
as your search term in the Rare Disease Database.)

Erythema Multiforme is an allergic inflammatory skin disorder
characterized by lesions that develop on the skin and mucous membranes.  The
early symptoms may include red, elevated spots (erythematous macules or
papules) that may have fluid filled centers and eventually grow into larger
blisters.  Affected areas generally include:  hands, forearms, feet, and/or
mucous membranes of the mouth, nose and/or genitals.  The skin lesions and
blisters caused by Erythema multiforme generally appear on both sides of the
body and tend to heal in approximately 2 to 6 weeks.  Erythema Multiforme may
also cause fever, joint pain, cough, and a sore throat.  (For more
information on this disorder, choose "Erythema Multiforme" as your search
term in the Rare Disease Database.)

Epidermolysis Bullosa refers to a group of rare hereditary skin diseases
characterized by fragile skin; blisters and small fluid-filled lesions
develop following minor trauma.  In some forms of Epidermolysis Bullosa, the
mucous membranes are involved.  Healing may be impaired in some forms of this
disorder resulting in multiple scars and/or damage to underlying muscle
tissue.  (For more information on these disorders, choose "Epidermolysis
Bullosa" as your search term in the Rare Disease Database.)

Epidermolysis Bullosa Acquista is a rare autoimmune disorder of the skin
that typically affects middle-aged and elderly people.  Trauma may cause
blisters on the skin of the elbows, knees, pelvis, buttocks, and scalp.
Increased levels of IgG are usually found around the blisters; scars usually
remain after healing.  (For more information on this disorder, choose
"Epidermolysis Bullosa" as your search term in the Rare Disease Database.)

Dermatitis Herpetiformis is a rare chronic skin disorder that is
characterized by groups of severely itching blisters and elevated lesions.
This disorder is often associated with a sensitivity to foods that contain
gluten (gluten-sensitive enteropathy).  The onset of this disorder in
generally slow in adults, but children may also be affected.  Small, discrete
blisters and itchy smooth lesions similar to hives may appear on the head,
elbows, knees, lower back, and buttocks.  Itching and burning may be almost
intolerable, and the need to scratch may be overwhelming.  (For more
information on this disorder, choose "Dermatitis Herpetiformis" as your
search term in the Rare Disease Database.)

Therapies:  Standard

Corticosteroids are the most widely used drugs for treating Pemphigus.
Frequently, topical corticosteroid ointments can relieve inflammation and
itching, and oral (systemic) corticosteroids such as prednisone relieve
inflammation and suppress the immune system.

Immunosuppressive drugs such as cyclosporine, cyclophosphamide,
azathioprine, or methotrexate may be prescribed to treat severe cases of
Pemphigus.  Cytotoxic drugs may also be used to suppress the immune system.
Gold compounds such as auranofin may be given to relieve inflammation and to
attempt to suppress the immune system (chrysotherapy).  The drug Dapsone may
also be prescribed but should be used with extreme caution.  To reduce
immediate or long-term side effects, drug therapy may be stopped temporarily
or changed.

Antibiotic drugs or creams may be given to manage infection and relieve
inflammation.  Silver sulfadiazine cream also may be used.  Dusting the
patient and their bed sheets with talcum powder may relieve the discomfort of
raw skin.

Genetic counseling may be beneficial for patients and their families if
they have the hereditary form of Pemphigus.  Other treatment is symptomatic
and supportive.

Therapies:  Investigational

Plasmapheresis may benefit some people with Pemphigus.  This procedure is a
method for removing unwanted substances (toxins, metabolic substances and
plasma parts) from the blood.  Blood is removed from the patient and blood
cells are separated from plasma.  The patient's plasma is then replaced with
other human plasma and the blood is retransfused into the patient.  This
therapy is still under investigation to analyze side effects and long-term
effectiveness.  More research is needed before plasmapheresis can be
recommended for use in all but the most severe cases of Pemphigus.

Researchers are investigating a new method of plasmapheresis for
Pemphigus patients.  An immunoglobin-free albumin solution is substituted for
the plasma and blood that is usually transfused into the patient.  This
procedure may decrease the autoimmune response of the antibodies in the
patient.

Scientists are studying a new approach to treatment of Pemphigus which
uses extracorporeal (outside the body) photopheresis.  In this process, the
blood is withdrawn, exposed to ultraviolet light, and then returned to the
Pemphigus patient.  More study is needed to determine the safety and
effectiveness of this procedure.

Surgery is also being investigated to treat Pemphigus when it is not
responsive to standard therapy.  Surgery involves removing the blistered skin
and applying skin grafts.

This disease entry is based upon medical information available through
November 1992.  Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate.  Please check with the agencies listed in the Resources section for
the most current information about this disorder.

Resources

For more information on Pemphigus, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     The National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     800-336-GENE
     301-652-5553

References

INTERNAL MEDICINE, 2nd Ed.:  Jay H. Stein, ed.-in-chief; Little, Brown and
Co., 1987.  Pp. 1368-1372.

MENDELIAN INHERITANCE IN MAN, 10th Ed.:  Victor A. McKusick, Editor:
Johns Hopkins University Press, 1992.  Pp. 835-836.

CECIL TEXTBOOK OF MEDICINE, 19th Ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Editors; W.B. Saunders Co., 1990.  Pp. 2309.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1373-1374.

CLINICAL DERMATOLOGY, 2nd Ed.; Thomas P. Habif, M.D., Editor:  The C.V.
Mosby Company, 1990.  Pp. 412-415.

PEMPHIGUS:  N. Korman; J Am Acad Dermatol (June, 1988:  18(6)).  Pp. 1219-
1238.

THE PATHOGENIC EFFECT OF IgG 4 AUTOANTIBODIES IN ENDEMIC PEMPHIGUS
FOLIACEUS (FOGO SELVAGEM).  Terblanche, John, et al.; The New Eng J of Med.
(June 1, 1989: 320 (22)).  Pp. 1463-1469.

DERMATOLOGIC CLINICS:  THE GENODERMATOSES, vol. 5, no. 1:  J.C. Alper, ed;
W.B. Saunders Co., 1987.  Pp. 160-161, 171-173.