Rare Hematology News

Disease Profile

Scleredema

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

Infancy

ageofonset-infancy.svg

ICD-10

M34.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

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

no.svg

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.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

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.

no.svg

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.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

Scleredema adultorum; Scleredema adultorum of Buschke; Scleredema diabeticorum;

Summary

Scleredema is a form of cutaneous mucinosis, a diverse group of rare skin conditions that are characterized by an accumulation of mucin (a jelly-like complex carbohydrate substance) in the skin. Signs and symptoms of this condition include hardening and thickening of the skin which may restrict movement. Skin in affected areas may be red or brown and often has an 'orange-skin' appearance. There are three forms of the condition which vary by disease course and long term outlook (prognosis). Although the underlying cause is currently unknown, each form is associated with a different condition: infection (type 1), blood abnormalities (type 2), and diabetes (type 3). In some cases, scleredema resolves spontaneously on its own, while in other affected people, the condition persists for long periods of time. Due to the rarity of the condition, there is no standard treatment.[1][2]

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

  • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

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.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Scleredema. Click on the link to view a sample search on this topic.

References

  1. Dr Julie Smith MBChB. Scleredema. DermNet New Zealand. February 2016; https://www.dermnetnz.org/topics/scleredema.
  2. Lisa K Pappas-Taffer, MD. Scleredema. Medscape Reference. June 2016; https://emedicine.medscape.com/article/1066175-overview.