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

• Congenital Hypomelanotic and Hypermelanotic Macules
• Hypo- and Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
• Westerhof Beemer Cormane Syndrome

What is Hereditary Congenital Macules, Hypopigmented and Hyperpigmented? (Definition/Background Information)

• Hereditary Congenital Hypopigmented and Hyperpigmented Macules is an uncommon and exceedingly rare neurocutaneous syndrome. Neurocutaneous syndromes are disorders that affect the central nervous system, skin, and bones, among other organs
• The disorder is characterized by the congenital appearance of light-colored or dark-colored skin lesions along-with short stature and mental health issues
• A treatment of Hereditary Congenital Hypopigmented and Hyperpigmented Macules is mostly symptomatic, since there are no known cures for this hereditary disorder

Who gets Hereditary Congenital Macules, Hypopigmented and Hyperpigmented? (Age and Sex Distribution)

• Hereditary Congenital Hypopigmented and Hyperpigmented Macules is an extremely rare disorder
• Currently, it has been only described in an Indian family spanning three generations
• The presentation of symptoms may occur at birth or infancy
• Both males and females may be affected

What are the Risk Factors for Hereditary Congenital Macules, Hypopigmented and Hyperpigmented? (Predisposing Factors)

• A positive family history may be an important risk factor, since Hereditary Congenital Macules, Hypopigmented and Hyperpigmented can be inherited
• Currently, no risk factors have been clearly identified for this condition

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 Hereditary Congenital Macules, Hypopigmented and Hyperpigmented? (Etiology)

• Presently, the cause of Hereditary Congenital Macules, Hypopigmented and Hyperpigmented is not well-understood
• It has been suggested that the condition is inherited in an autosomal dominant manner

Autosomal dominant inheritance: 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 Hereditary Congenital Macules, Hypopigmented and Hyperpigmented?

The signs and symptoms of Hereditary Congenital Hypopigmented and Hyperpigmented Macules may vary from one individual to another and may include:

• Presence of macules that are of dark or light discoloration
• A macule indicates the presence of a flat, distinct, discolored area of skin less than 1 cm wide. A macule usually does not involve any change in the thickness or texture of the affected skin
• The macules may be irregularly sized and occur anywhere in the body
• No pain, irritation, or itchiness may be noted

Other systemic signs and symptoms may be noted involving physical growth and intellectual development.

How is Hereditary Congenital Macules, Hypopigmented and Hyperpigmented Diagnosed?

Hereditary Congenital Macules, Hypopigmented and Hyperpigmented is diagnosed on the basis of the following information:

• Complete physical examination with evaluation of medical history
• Dermoscopy: It 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: 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

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 Hereditary Congenital Macules, Hypopigmented and Hyperpigmented?

The complications of Hereditary Congenital Macules, Hypopigmented and Hyperpigmented may include:

• Low self-esteem
• Abnormality of the ribs
• Microcephaly
• Short stature
• Intellectual disability that may be severe

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

How is Hereditary Congenital Macules, Hypopigmented and Hyperpigmented Treated?

There is no cure for Hereditary Congenital Macules, Hypopigmented and Hyperpigmented since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complications that develops. This may include:

• Cosmetic camouflage for mild skin lesions
• Topical applications
• Nutritional support and vitamin supplementation
• Special therapeutic treatment (speech, physical, and occupational therapists) and supportive care for developmental disabilities

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

How can Hereditary Congenital Macules, Hypopigmented and Hyperpigmented be Prevented?

Currently, Hereditary Congenital Macules, Hypopigmented and Hyperpigmented may not be preventable since it is a genetic disorder.

• 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 Hereditary Congenital Macules, Hypopigmented and Hyperpigmented? (Outcomes/Resolutions)

• The prognosis of Hereditary Congenital Macules, Hypopigmented and Hyperpigmented is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications. Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Hereditary Congenital Macules, Hypopigmented and Hyperpigmented:

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

https://www.dovemed.com/healthy-living/skin-disorders/