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Dyschromatosis Symmetrica Hereditaria 1

Last updated Sept. 13, 2021

Reviewed by: Lester Fahrner, MD

Approved by: Krish Tangella MD, MBA, FCAP

Dyschromatosis Symmetrica Hereditaria 1 (DSH 1) is a rare genodermatosis (hereditary skin disorder) that is transmitted in an autosomal dominant manner.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Familial Reticulate Acropigmentation of Dohi
  • Reticulate Acropigmentation of Dohi
  • Symmetric Dyschromatosis of the Extremities

What is Dyschromatosis Symmetrica Hereditaria 1? (Definition/Background Information)

  • Dyschromatosis Symmetrica Hereditaria 1 (DSH 1) is a rare genodermatosis (hereditary skin disorder) that is transmitted in an autosomal dominant manner
  • In this disorder, mainly the arms and legs are marked by flat skin lesions (called macules) that may be hyperpigmented and hypopigmented; the skin patches tend to first appear in young children
  • A treatment of this skin disorder is mostly symptomatic since there are no known cures for this hereditary disorder. In a majority, the prognosis of Dyschromatosis Symmetrica Hereditaria 1 is good

Who gets Dyschromatosis Symmetrica Hereditaria 1? (Age and Sex Distribution)

  • Dyschromatosis Symmetrica Hereditaria 1 is a rare disorder. The presentation of symptoms occur in young children
  • Both males and females may be affected
  • Individuals of all racial and ethnic groups may be affected
  • However, a majority of the cases have been reported from China and Japan. Some cases have been reported from India, Europe, and the Caribbean

What are the Risk Factors for Dyschromatosis Symmetrica Hereditaria 1? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Dyschromatosis Symmetrica Hereditaria 1 can be inherited
  • Descendants of Chinese and Japanese ancestry may have a higher risk

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Dyschromatosis Symmetrica Hereditaria 1? (Etiology)

  • Dyschromatosis Symmetrica Hereditaria 1 is a genetic disorder that is inherited in an autosomal dominant manner
  • A mutation has been identified in the double-stranded RNA-specific adenosine deaminase (ADAR) gene

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Dyschromatosis Symmetrica Hereditaria 1?

The signs and symptoms of Dyschromatosis Symmetrica Hereditaria 1 may include:

  • Presence of macules (macules are flat discolored skin lesions) on the body
  • The macules are either hyperpigmented (having increased skin pigmentation) or hypopigmented (having decreased skin pigmentation)
  • The arms and legs are chiefly affected
  • On the face, the lesions appear as freckles

How is Dyschromatosis Symmetrica Hereditaria 1 Diagnosed?

Dyschromatosis Symmetrica Hereditaria 1 is diagnosed on the basis of the following information:

  • Physical examination of the individual and medical history evaluation
  • Assessment of the presenting signs and symptoms
  • Dermoscopy: Dermoscopy is a diagnostic tool where a dermatologist examines the skin using a special magnified lens
  • Wood’s lamp examination: In this procedure, the healthcare provider examines the skin using ultraviolet light. It is performed to examine the change in skin pigmentation
  • Skin biopsy, if necessary: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis
  • Molecular genetic testing to check for or confirm specific causative gene mutation(s)

A differential diagnosis may be necessary to eliminate other conditions that present similar signs and symptoms.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Dyschromatosis Symmetrica Hereditaria 1?

The complications of Dyschromatosis Symmetrica Hereditaria 1 may include:

  • Emotional stress
  • Cosmetic concerns due to skin discoloration
  • Torsion dystonia causing painful muscle contractions
  • Mental health issues

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Dyschromatosis Symmetrica Hereditaria 1 Treated?

There is no cure for Dyschromatosis Symmetrica Hereditaria 1 since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops. The treatment measures may include:

  • Cosmetic camouflage for mild skin lesions
  • Topical applications

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

How can Dyschromatosis Symmetrica Hereditaria 1 be Prevented?

Currently, Dyschromatosis Symmetrica Hereditaria 1 may not be preventable since many of these disorders are diagnosed at or following the birth of the child.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

What is the Prognosis of Dyschromatosis Symmetrica Hereditaria 1? (Outcomes/Resolutions)

The prognosis of Dyschromatosis Symmetrica Hereditaria 1 is dependent upon the severity of the signs and symptoms and associated complications. In most cases, the prognosis is favorable with adequate treatment.

Additional and Relevant Useful Information for Dyschromatosis Symmetrica Hereditaria 1:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 26, 2018
Last updated: Sept. 13, 2021