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Disease Profile
Lipoid proteinosis of Urbach and Wiethe
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
E78.8
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)
Lipoproteinosis; Hyalinosis cutis et mucosae; Urbach Wiethe disease
Categories
Congenital and Genetic Diseases; Metabolic disorders; Skin Diseases
Summary
Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. Damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to
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 | ||
| Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ] |
0008066 |
| Abnormality of the gingiva |
Abnormality of the gums
|
0000168 |
| Acne | 0001061 | |
| Hoarse voice |
Hoarseness
Husky voice
[ more ] |
0001609 |
| Papule | 0200034 | |
| Pustule |
Pimple
|
0200039 |
| Scarring | 0100699 | |
| Subcutaneous nodule |
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] |
0001482 |
| Thick lower lip vermilion |
Increased volume of lower lip
Plump lower lip
Prominent lower lip
[ more ] |
0000179 |
| Tongue nodules | 0000199 | |
| 30%-79% of people have these symptoms | ||
| Alopecia of scalp |
Pathologic hair loss from scalp
Scalp hair loss
[ more ] |
0002293 |
|
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
| 0001332 | ||
| High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
| Hyperkeratosis | 0000962 | |
| Microglossia |
Abnormally small tongue
Underdevelopment of the tongue
[ more ] |
0000171 |
| Recurrent respiratory infections |
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ] |
0002205 |
| Verrucae |
Warts
|
0200043 |
| 5%-29% of people have these symptoms | ||
| Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
| Nasal polyposis | 0100582 | |
| 0001250 | ||
| Percent of people who have these symptoms is not available through HPO | ||
| Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
| 0000007 | ||
| Bilateral intracranial calcifications | 0005671 | |
| Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
| Memory impairment |
Forgetfulness
Memory loss
Memory problems
Poor memory
[ more ] |
0002354 |
| Paranoia | 0011999 | |
| Patchy alopecia |
Patchy baldness
|
0002232 |
| Thickened skin |
Thick skin
|
0001072 |
Treatment
Affected people with growths on their vocal cords or eyelids may be treated with carbon dioxide laser surgery. Dermabrasion (removal of the top layer of skin) may also improve the appearance of skin abnormalities.[1][2]
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
|
Conditions with similar signs and symptoms from Orphanet
|
|---|
|
The main differential diagnoses are hydroa vacciniforme and autosomal erythropoietic protoporphyria, but also include leprosy, lichen amyloidosis (see these terms), and xanthomas.
Visit the Orphanet disease page for more information.
|
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
- Genetics Home Reference (GHR) contains information on Lipoid proteinosis of Urbach and Wiethe. This website is maintained by the National Library of Medicine.
- The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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.
- 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.
- 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 Lipoid proteinosis of Urbach and Wiethe. Click on the link to view a sample search on this topic.
References
- Ivan D Camacho, MD. Lipoid Proteinosis. Medscape. January 10, 2014; https://emedicine.medscape.com/article/1103357-overview.
- Lipoid Proteinosis Information Page. National Institute of Neurological Disorders and Stroke. June 2016; https://www.ninds.nih.gov/Disorders/All-Disorders/Lipoid-Proteinosis-Information-Page.
- Lipoid proteinosis. Orphanet. October 2014; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=530.
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