Rare Hematology News

Disease Profile

Hashimoto-Pritzker syndrome

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)

Hashimoto-Pritzker histiocytosis; Hashimoto-Pritzker disease; Congenital Langerhans cell histiocytosis;

Categories

Blood Diseases; Lung Diseases

Summary

Hashimoto-Pritzker disease, also known as congenital self-healing reticulo-histiocytosis, is a very rare disease characterized by single or multiple red-purple or brown pimples (papules) and lumps (nodules) present at birth (congenital) or soon thereafter. Classic signs and symptoms include congenital or early development of painless papules, nodules or plaques with spontaneous regression in 2-3 months, and increase of a type of immune cells known as Langerhans cell histiocytes. Langerhans cells help regulate the immune system, and are normally found throughout the body. An excess of immature Langerhans cells usually form tumors called granulomas. Most patients have multiple lesions, but in about 25% of cases there is only one lesion.[1][2][3] Development of lesions in adulthood, recurrence of the disease, as well as lung and eye involvement, are very rare.[1][3] Because the lesions often cure by themselves, treatment is usually not necessary, although topical corticoids may be used for persistent lesions. It is considered as a benign, self-limited disorder, but long-term follow-up and a thorough evaluation for internal organ abnormalities is recommended.[3][4]

Hashimoto-Pritzker disease is one form (congenital self-healing variant) of Langerhans cell histiocytosis (LCH). The other forms include a severe, acute and disseminate form known as Letterer-Siwe disease, an intermediate chronic form with multiple lesions known as Hand-Schüller-Christian disease (characterized by diabetes insipidus, bulging of the eye and localized lesions in the bone) and a less severe disease known as eosinophilic granuloma, characterized by
solitary or few, and chronic lesions of bone or other organs. Because all the variants have many common symptoms it is though that they may be manifestations of Langerhans cell histiocytosis and not separate syndromes.[1][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 Providing General Support

    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

    • 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 Hashimoto-Pritzker syndrome. Click on the link to view a sample search on this topic.

      References

      1. Shea CR. Langerhans Cell Histiocytosis. Medscape Reference. March 7, 2017; https://emedicine.medscape.com/article/1100579-overview.
      2. Lipton JM. Langerhans Cell Histiocytosis. Merck Manuals. June, 2013; https://www.merckmanuals.com/professional/hematology-and-oncology/histiocytic-syndromes/langerhans-cell-histiocytosis.
      3. Butler DF. Congenital Self-Healing Reticulohistiocytosis. Medscape Reference. March 08, 2016; https://emedicine.medscape.com/article/1336764-overview.
      4. Zanuncio VV, de Carvalho LR, Guedes ACM, Silva CMR, Gontijo B. Case for diagnosis. Anais Brasileiros de Dermatologia. 2013; 88(6):1001-1003. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900360/.