Rare Neurology News

Disease Profile

Pemphigoid gestationis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

Europe Estimated

Age of onset

Adolescent

ICD-10

L12.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Gestational pemphigoid; Herpes gestationis

Summary

Pemphigoid gestationis (PG) is a pregnancy-associated, autoimmune skin disorder. It usually begins abruptly during the 2nd or 3rd trimester of pregnancy, but it can begin at any time during pregnancy. Signs and symptoms often include the sudden formation of very itchy, red bumps and/or blisters on the abdomen and trunk, which may then spread to other parts of the body. Unrelenting itchiness (pruritus) often interferes with daily activities.[1] Symptoms may improve at the end of pregnancy, but flares may occur during, or right after, delivery. While PG usually goes away on its own within weeks to months after delivery, it has been reported to persist for years in some cases.[1] PG is caused by a woman's immune system producing autoantibodies and mistakenly attacking her own skin, but the trigger for autoantibody production is poorly understood.[1] Treatment aims to relieve itching and prevent blister formation, and may involve the use of topical corticosteroids, oral corticosteroids, and/or oral antihistamines.[2] The lowest effective dose of medication should be used in order to minimize the risk to the mother and fetus.[3] The disorder may recur at a later time such as when menstruation resumes; with use of oral contraceptives; and/or during subsequent pregnancies.[1][2]

Symptoms

In most women with pemphigoid gestationis (PG), the condition begins abruptly as an extremely itchy, hive-like rash during mid to late pregnancy (during the 2nd or 3rd trimester). It often begins with red bumps around the abdomen and trunk, and then spreads to other parts of the body within days to weeks. Large, fluid-filled blisters may form on the affected areas of skin. Some people with PG do not develop blisters, but instead have large, raised patches (plaques).[1][2]

Symptoms may improve or go away on their own towards the end of the pregnancy. However, most women experience a "flare" around the time of delivery. In most cases, symptoms go away again days after giving birth, but in some women the condition persists for weeks, months, or even years. The condition may occur again when menstruation resumes, with the use of oral contraceptives, or during future pregnancies.[1][2]

Some babies of women with PG grow less than expected during pregnancy (small for gestational age) and/or are born before their due date (prematurely).[1][3] While not common, some babies of women with PG are born with a rash similar to that seen in women with PG, but it typically goes away without treatment within a few weeks.[3]

Cause

Pemphigoid gestationis (PG) is an autoimmune disease, which means that an affected person's immune system mistakenly reacts against the person's own tissue. Immunoglobulin type G (IgG) autoantibodies, which normally protect the body against infections, are responsible in PG. The antibody attack results in inflammation and separation of the epidermis (outer layer of skin) from the dermis (inner layer of skin), allowing fluid to build up and create the blisters associated with PG.[2] The exact, underlying triggers that cause a woman to develop PG are still being studied.

Diagnosis

Pemphigoid gestationis shares some common features with other skin conditions of pregnancy, which can make diagnosis difficult.[1] Diagnosis generally first requires a skin biopsy, which shows typical features of subepidermal blistering. The diagnosis may then be confirmed by direct immunofluorescence (DIF) staining of the biopsy to reveal antibodies. This is a lab technique that uses fluorescent dyes to identify antibodies bound to specific antigens.[2] In some cases, circulating antibodies can be detected by a blood test (indirect immunofluorescence test).[2]

Treatment

The goals of treatment for women with pemphigoid gestationis (PG) are to relieve itching, prevent blister formation, and treat any secondary infections.[1][2] Treatment may depend on the severity in each person, and the risks and benefits of therapies need to be considered for both the mother and the fetus.[1] In most cases, PG resolves spontaneously (on its own) within days after delivery, so treatment can usually be tapered off and stopped.[2]

Topical corticosteroids may be used in milder cases, while oral corticosteroids are needed in more severe cases. Oral antihistamines may also be used to relieve itching. Intravenous immunoglobulin (IVIG) has also been reported to be effective. Certain immunosuppressive medications may also be effective, but their safety during pregnancy and/or breastfeeding must be considered.[2]

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Social Networking Websites

    • Visit the following Facebook groups related to Pemphigoid gestationis:
      Pemphigoid Gestationis
    • RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
      • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
      • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Merck Manual for health care professionals provides information on Pemphigoid gestationis.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Pemphigoid gestationis. Click on the link to view a sample search on this topic.

          References

          1. Anatoli Freiman. Pemphigoid Gestationis. Medscape Reference. August 17, 2015; https://emedicine.medscape.com/article/1063499-overview.
          2. Ngan V. Pemphigoid gestationis. DermNet New Zealand. 2003; https://www.dermnetnz.org/immune/pemphigoid-gestationis.html.
          3. Dulay AT. Pemphigoid Gestationis. MerckManuals. March, 2018; https://www.merckmanuals.com/home/women-s-health-issues/complications-of-pregnancy/pemphigoid-gestationis.
          4. Flangini Cobo M, Giuli Santi C, Wakisaka Maruta C, Aoki V. Pemphigoid Gestationis: Clinical and Laboratory Evaluation. Clinics. 2009;
          5. Specific Dermatoses of Pregnancy. In: Gabbe SG, Niebyl JR, Simpson JL. Gabbe: Obstetrics: Normal and Problem Pregnancies, 5th ed. Philadelphia: Churchill Livingstone Elsevier; 2007;

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