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Disease Profile

Atrophoderma of Pasini and Pierini

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

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ICD-10

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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)

Idiopathic atrophoderma of Pasini and Pierini; Congenital atrophoderma of Pasini and Pierini

Categories

Skin Diseases

Summary

Atrophoderma of Pasini and Pierini (ATPP) is a rare skin condition that results in patchy areas of discolored skin. The main symptom of atrophoderma of Pasini and Pierini is multiple irregularly shaped, dark or light areas of skin in which the tissue under the skin breaks down resulting in a depression (dent). Symptoms usually start in adolescence or early adulthood and can progress for 10-20 years. The cause of ATPP is unknown. Diagnosis is based on clinical examination and a skin biopsy. There is no single specific treatment for this rare condition.[1][2]

Symptoms

The following list includes the most common signs and symptoms in people with atrophoderma of Pasini and Pierini. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

The main symptom of atrophoderma of Pasini and Pierini is dark or light-colored indented areas of skin with irregular shapes and borders. Some people have pain, itching, or numbness associated with the skin findings.[1][2] 

The skin findings in this condition usually appear in adolescence or early adulthood. The trunk is usually affected first and then the changes in the skin may spread to the chest, arms and stomach. Atrophoderma of Pasini and Pierini may progress over 10-20 years and then stops. Very rarely, this condition will progress to systemic sclerosis.[2][3]

Cause

The cause of atrophoderma of Pasini and Pierini is unknown. In some cases, a bacteria known as Borrelia burgdorferi may be the cause. In others, a possible genetic cause is suspected.[1][2]

Diagnosis

Atrophoderma of Pasini and Pierini is diagnosed based on a clinical examination and a skin biopsy to look at a piece of affected skin under the microscope.[2][4]

Treatment

There is no specific treatment for atrophoderma of Pasini and Pierini. Treatments that have been tried with some success include antibiotics, topical medications, anti-malarial drugs, and laser treatments.[1][5]

Specialists who may be involved in the care of someone with atrophoderma of Pasini and Pierini include:

  • Dermatologist
  • Pharmacist

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.

    In-Depth Information

    • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Atrophoderma of Pasini and Pierini. Click on the link to view a sample search on this topic.

      References

      1. Litaiem N, Idoudi S. Atrophoderma of Pasini and Pierini. In: StatPearls. Treasure Island (FL): StatPearls Publishing. Jan 2019; https://pubmed.ncbi.nlm.nih.gov/30085611.
      2. Muntyanu A, Rdpath M, Roshdy O, Jfri A. Idiopathic Atrophoderma of Pasini and Pierini: Case report and literature review. Clin Case Rep. 2018; 7(2):258-263. https://pubmed.ncbi.nlm.nih.gov/30847185.
      3. Bassi A, Remaschi G, Difonzo EM, et la. Idiopathic congenital atrophoderma of Pasini and Pierini. Arch Dis Child. 2015; 100(12):1184. https://pubmed.ncbi.nlm.nih.gov/26374755/.
      4. Begolli Gerqari A, Ferizi M, Gerqari I. Atrophoderma of Pasini and Pierini in a young adult: a case report. Acta Dermatovenerol Alp Pannonica Adriat. 2019; 28(1):45-46. https://pubmed.ncbi.nlm.nih.gov/30901070.
      5. Honda M, Oyama N, Uesugi S, Katoh T, Hasegawa M. Successful treatment with oral minocycline in a case with a long-standing idiopathic atrophoderma of Pasini and Pierini: Histopathological comparison with the contralateral normal skin. J Dermatol. 2019; 46(12):e472-e474. https://pubmed.ncbi.nlm.nih.gov/31463968.

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