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

• DUH (Dyschromatosis Universalis Hereditaria)

What is Dyschromatosis Universalis Hereditaria? (Definition/Background Information)

• Dyschromatosis Universalis Hereditaria (DUH) is a rare genodermatosis (hereditary skin disorder) that is mostly transmitted in an autosomal dominant manner
• In this disorder, the body is by flat skin lesions (called macules) that may be hyperpigmented and hypopigmented; the skin lesions may appear at any age but are commonly noted during childhood
• A treatment of this genetic skin disorder is mostly symptomatic since there are no known cures for this disorder. In a majority, the prognosis of Dyschromatosis Universalis Hereditaria is good

Who gets Dyschromatosis Universalis Hereditaria? (Age and Sex Distribution)

• Dyschromatosis Universalis Hereditaria is a rare congenital disorder
• The presentation of symptoms can begin at any time in an individual’s life, although most often, symptom manifestation is observed in childhood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

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

• A positive family history may be an important risk factor, since Dyschromatosis Universalis Hereditaria can be inherited

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 Universalis Hereditaria? (Etiology)

• Dyschromatosis Universalis Hereditaria is caused by mutation(s) in the ABCB6 gene, which codes for the ATP-binding cassette subfamily B, member 6 protein
• The disorder is inherited in an autosomal dominant manner. Although, there are also reports of autosomal recessive inheritance
• Some cases are reported from mutations involving the SASH1 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.

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Dyschromatosis Universalis Hereditaria?

The signs and symptoms of Dyschromatosis Universalis Hereditaria vary, but may include:

• The presence of hyperpigmented and hypopigmented macules (flat and discolored skin lesions) on the body
• The macules may be small and irregularly-shaped
• The distribution of the macules on the body is random and no specific pattern is seen
• The hyperpigmented and hypopigmented macules may occur all over the body, including rarely, on the palms, soles, and mucous membranes
• The most common locations include the chest, back, arms, legs, and face
• Nail and hair abnormalities may be seen

How is Dyschromatosis Universalis Hereditaria Diagnosed?

Dyschromatosis Universalis Hereditaria 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 Universalis Hereditaria?

The complications of Dyschromatosis Universalis Hereditaria may include:

• Severe cosmetic issues
• Low self-esteem

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

How is Dyschromatosis Universalis Hereditaria Treated?

There is no cure for Dyschromatosis Universalis Hereditaria since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication 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 Universalis Hereditaria be Prevented?

Currently, Dyschromatosis Universalis Hereditaria 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 Universalis Hereditaria (Outcomes/Resolutions)

The prognosis of Dyschromatosis Universalis Hereditaria 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 Universalis Hereditaria:

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

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