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Disease Profile

Pseudopelade of Brocq

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.

Unknown

Age of onset

Adult

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ICD-10

L66.0

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)

Pseudo pelade of Brocq; Brocq pseudopelade; Pseudo-pelade of Brocq

Categories

Skin Diseases

Summary

Pseudopelade of Brocq (PBB) is a slowly progressive, chronic condition characterized by scarring hair loss (cicatricial alopecia). There exists some controversy as to whether PBB is a distinct condition or the common final stage or variant of several different forms of scarring alopecias, such as discoid lupus erythematosus (DLE) or lichen planopilaris (LPP). PBB is classified into two categories depending on whether a scarring alopecia is present (burnt-out or end-stage scarring) or not (idiopathic).[1]

The patches of hair loss present in PBB may be single or multiple. They are usually small, discrete, round or oval, and asymmetrical. The underlying skin is typically smooth, soft, and flesh-colored or white, with little, if any, inflammation.[2] Although the exact cause of PBB has not been identified, it is believed to be an autoimmune disease. Other factors that may be involved include infections with Borrelia burgdorferi, the bacterium that causes Lyme disease and issues with the cells involved in hair growth (stem cell failure).[1][2][3] There is no standard treatment for PBB. In the beginning of the disease process, certain medication, such as steroids, may be used in an effort to prevent further hair loss.[1][3]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Alopecia
Hair loss
0001596
Lichenification
0100725
Sparse scalp hair
Reduced/lack of hair on scalp
Scalp hair, thinning
Sparse, thin scalp hair
sparse-absent scalp hair

[ more ]

0002209
30%-79% of people have these symptoms
Papule
0200034
Recurrent skin infections
Skin infections, recurrent
0001581
5%-29% of people have these symptoms
Abnormality of the nail
0001597
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow

[ more ]

0100840
Cheilitis
Inflammation of the lips
0100825

Treatment

Pseudopelade of Brocq, like most scarring alopecias, is difficult to treat. Treatment, when indicated, focuses on prevention of disease progression. Patients with active lesions and in whom less than 10% of the scalp is involved may benefit from a combination of topical corticosteroids and corticosteroids injected directly into the scalp lesions. Patients with more extensive disease or patients who do not respond to steroids may be offered hydroxychloroquine. The hydroxychloroquine may be combined initially with prednisone until the hydroxychloroquine has had time to take effect. Hydroxychloroquine therapy can have serious side effects, so blood work and special testing should be performed before and during the course of treatment. Though hydroxychloroquine therapy may be used by some as a first-line therapy, some believe it is most useful in patients with underlying discoid lupus erythematosus (DLE). Additional treatment options include isotretinoin and mycophenolate mofetil. Surgery might be considered in patients whose condition has remained stable for one year.[4]

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

    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

      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 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.
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Pseudopelade of Brocq. Click on the link to view a sample search on this topic.

        References

        1. Kendall M Egan. Medscape. October 30, 2015; https://emedicine.medscape.com/article/1071359-overview.
        2. Delwyn Dyall-Smith. Pseudopelade of Brocq. DermNet New Zealand. https://www.dermnetnz.org/topics/pseudopelade-of-brocq/. Accessed 9/15/2016.
        3. Nilofar Diwan, Sneha Gohil, Pragya A Nair. Primary Idiopathic Pseudopelade of Brocq: Five Case Reports. Int J Trichology. 2014 Jan-Mar; 6(1):27-30. https://www.ncbi.nlm.nih.gov/pubmed/?term=25114452.
        4. Kendall Egan. Brocq Pseudopelade. Medscape. March 10, 2017; https://emedicine.medscape.com/article/1071359-overview.

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