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Disease Profile
Primary cutaneous amyloidosis
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
All ages
ICD-10
E85.4+ L99.0*
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Primary localized cutaneous amyloidosis; PLCA; Lichen amyloidosis familial;
Categories
Skin Diseases
Summary
Primary cutaneous amyloidosis is a form of amyloidosis, a group of conditions in which an abnormal
- Lichen amyloidosis multiple itchy, raised spots which are scaly and red/brown in color. This rash generally affects the shins, thighs, feet and forearms.
- Macular amyloidosis mild to severely itchy, flat, dusky-brown or greyish colored spots that may come together to form patches of darkened skin. This rash generally appears on the upper back between the shoulder blades, the chest and less commonly, the arms.
- Nodular amyloidosis asymptomatic firm bumps that may be pinkish-brown to red in color. This rash may occur on the trunk, limbs, face, and/or genitals.
The exact underlying cause of primary cutaneous amyloidosis is poorly understood. It is sometimes associated with other conditions such as atopic dermatitis, sarcoidosis, and psoriasis. Although most cases occur sporadically in people with no
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
|
---|---|---|
Percent of people who have these symptoms is not available through HPO | ||
Abnormal cranial nerve morphology | 0001291 | |
Adult onset |
Symptoms begin in adulthood
|
0003581 |
Amyloidosis | 0011034 | |
0000006 | ||
Cutaneous amyloidosis | 0012309 | |
Cutis laxa |
Loose and inelastic skin
|
0000973 |
Dry skin | 0000958 | |
Lattice corneal dystrophy | 0001149 | |
Lichenification | 0100725 | |
Pruritus |
Itching
Itchy skin
Skin itching
[ more ] |
0000989 |
Scaling skin |
flaking skin
peeling skin
scaly skin
[ more ] |
0040189 |
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
-
Amyloidosis Australia, Inc.
131-133 Napier Street
St. Arnaud,
Victoria, 3478
Australia
Telephone: 03 5495 1169
E-mail: info@amyloidosis.com.au
Website: https://www.amyloidosis.com.au/ -
Amyloidosis Foundation
7151 N. Main Street
Suite 2
Clarkston, MI 48346
Toll-free: 877-AMYLOID (1-877-269-5643)
E-mail: info@amyloidosis.org
Website: https://www.amyloidosis.org/ -
Amyloidosis Support Groups Inc.
232 Orchard Drive
Wood Dale, IL 60191
Toll-free: 866-404-7539
Telephone: 630-350-7539
E-mail: info@amyloidosissupport.org
Website: https://www.amyloidosissupport.org/
Social Networking Websites
-
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
- Amyloidosis Awareness is an illustrated booklet for patients and physicians developed by Amyloidosis Support Groups Inc. Versions of the booklet are also available in Spanish and Portuguese.
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- Genetics Home Reference (GHR) contains information on Primary cutaneous amyloidosis. This website is maintained by the National Library of Medicine.
In-Depth Information
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
Lichen Amyloidosis
Macular Amyloidosis
Nodular Localized Cutaneous Amyloidosis - 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Primary localized cutaneous amyloidosis 1
Primary localized cutaneous amyloidosis 2 - 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 Primary cutaneous amyloidosis. Click on the link to view a sample search on this topic.
References
- Amyloidosis. DermNet NZ. June 2014; https://www.dermnetnz.org/systemic/amyloidosis.html.
- Al Yahya RS. Treatment of primary cutaneous amyloidosis with laser: a review of the literature. Lasers Med Sci. July 2016; 31(5):1027-1035. https://www.ncbi.nlm.nih.gov/pubmed/26984345.
- AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1. OMIM. May 2011; https://www.omim.org/entry/105250.
- AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2. OMIM. May 2011; https://www.omim.org/entry/613955.