About dyschromatosis universalis hereditaria

What is dyschromatosis universalis hereditaria?

Dyskeratosis congenita is a rare genetic form of bone marrow failure, the inability of the marrow to produce sufficient blood cells. Dyskeratosis is Latin and means the irreversible degeneration of skin tissue, and congenita means inborn. First described in the medical literature in 1906, dyskeratosis congenita was originally thought to be a skin disease that also affects the nails and the mouth. Only later in the sixties was it realized that patients with these skin changes almost always develop bone marrow failure. Thus, for the last 40 years or so, the bone marrow failure syndrome dyskeratosis congenita was diagnosed when patients presented with the triad of abnormal skin, malformation (dystrophy) of the nails, and white, thickened patches on the mucous membranes of the mouth (oral leukoplakia). The skin changes may be present before the development of bone marrow failure. Bone marrow failure is usually diagnosed by the low number of circulating blood cells including red blood cells, white blood cells, and platelets. Additional findings in patients with dyskeratosis congenita may include short stature, eye and tooth abnormalities, thin and early graying of the hair, lung (pulmonary) disease, liver disease, gut abnormalities, bone thinning (osteoporosis), infertility, learning difficulties, and delays in reaching developmental milestones. An increased incidence of leukemia and cancer has also been documented.

Today, in addition to examining the skin, nails, and mouth for these classical changes, we also use other tests to diagnose dyskeratosis congenita including testing for the genetic abnormality responsible for the development of the disease. Using these more sensitive tests, we are beginning to realize, that only a minority of patients with the genetic abnormality actually develop the full clinical picture of dyskeratosis congenita as outlined above. We find that there are many more individuals with the genetic abnormality (mutation) who have only a mild form of the disease. Often these individuals may only show one or two of the clinical features and these only become obvious, late in life. Some never develop the classic skin abnormalities that coined the name of the disease. Whether the disease in these patients in the absence of skin manifestations should also be labeled with dyskeratosis congenita is controversial and often these individuals are referred to as having atypical dyskeratosis congenita. There are even individuals carrying the mutation who will never develop disease, however their children or grandchildren might. These individuals are often referred to as silent mutation carriers. This new knowledge is important for physicians and patients because much of what has previously been published about this disease may actually not apply anymore for all individuals newly diagnosed with dyskeratosis congenita. In addition to the many more mild manifestations of this disease we also realize that there are some rare but very severe forms of dyskeratosis congenita. These were previously known as the Hoyeraal-Hreidarsson syndrome and the Revesz syndrome but today we know that they have the same underlying abnormality and are caused at least in part by mutations in the same genes responsible for dyskeratosis congenita. These severe forms manifest early in life and are associated with additional clinical features that are usually not present in other forms of dyskeratosis congenita (see also below).

In the majority of cases dyskeratosis congenita is inherited. The pattern of inheritance may be X-linked (Zinsser-Cole-Engleman syndrome), autosomal dominant (dyskeratosis congenita, Scoggins type) or autosomal recessive. However, in a large proportion of patients dyskeratosis congenita occurs sporadically, meaning that the parents do not show disease. In some patients with sporadic DC the genetic abnormality may have newly arisen (de novo mutation) and therefore is not present in either parent.

What are the symptoms for dyschromatosis universalis hereditaria?

Mucous patches in mouth symptom was found in the dyschromatosis universalis hereditaria condition

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms

Hypermelanotic macule (A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size), Hypopigmented skin patches, macule, spotty hypopigmentation, cutaneous photosensitivity, freckling, hearing impairment, and, short stature.

What are the causes for dyschromatosis universalis hereditaria?

Dyschromatosis universalis hereditaria is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: ABCB6

What are the treatments for dyschromatosis universalis hereditaria?

Dychromatosis Universalis Hereditaria is inherited by an autosomal dominant inheritance pattern

Autosomal means the gene is located on any chromosome except the X or Y chromosomes (sex chromosomes). Genes, like chromosomes, usually come in pairs. Dominant means that only one copy of the responsible gene (causal gene) must have a disease-causing change (pathogenic variant) in order for a person to have the disease. Mutation is an older term that is still sometimes used to mean pathogenic variant.

In some cases, a person inherits the pathogenic variant from a parent who has the genetic disease. In other cases, the disease occurs because of a new pathogenic variant (de novo) in the causal gene and there is no family history of the disease.

Each child of an individual with an autosomal dominant disease has a 50% (1 in 2) chance of inheriting the variant and the disease. Typically, children who inherit a dominant variant will have the disease, but they may be more or less severely impacted than their parent. Sometimes a person may have a pathogenic variant for an autosomal dominant disease and show no signs or symptoms of the disease.

What are the risk factors for dyschromatosis universalis hereditaria?

"Dermatitis herpetiformis is a long-lasting (chronic) skin disorder that results in itchy bumps and blisters. It is sometimes referred to as DH, Duhring's disease, the gluten rash, or celiac rash. Gluten sensitivity is the primary cause of dermatitis herpetiformis. Common foods including wheat, rye, and barley contain gluten. 10 to 25 percent of those with celiac disease also have dermatitis herpetiformis. Patients with dermatitis herpetiformis typically do not experience the gastrointestinal symptoms associated with celiac disease. DH is considered to be the particular cutaneous manifestation of celiac disease (CD), and the best way to treat the condition is with a lifelong gluten-free diet. However, numerous medications, such as dapsone, sulfones, or steroids, can be used for varying lengths of time in the first month following the diagnosis or during the inflammatory phases of the disease, when a gluten-free diet alone would not be sufficient to control the symptoms. Patients with DH may be treated with additional medications to manage their skin complaints. Among these, powerful topical steroids like betamethasone valerate or dipropionate or very powerful ones like clobetasol propionate are beneficial in cases of limited disease to lessen itching and the emergence of new lesions. Systemic steroids or antihistamines can thus at least partially suppress itching and burning sensations, however, their efficacy is regarded as being rather low. Symptoms: Clusters of itchy, Small blisters and bumps, mostly on the elbows, lower back, buttocks, and back of the head. Condition: long-term (chronic) skin condition with blisters Drugs: Dapsone (diaminodiphenyl sulfone) Sulfapyridine"

Is there a cure/medications for dyschromatosis universalis hereditaria?

"A rare genodermatosis called dyschromatosis Universalis hereditaria (DUH) was first and foremost documented in Japan. However, subsequent cases from other nations have also been reported. A set of illnesses known as dyschromatosis are distinguished by the development of tiny, erratic hyper- and hypopigmented macules. A few people exhibit autosomal recessive inheritance, even though the majority of instances indicate an autosomal dominant pattern of inheritance. Concurrent counseling and psychiatric consulting can help these patients, who frequently experience depression due to cosmetic deformity, lead more fulfilling and fruitful lives.  DUH is typically asymptomatic, although systemic abnormalities such as neurologic issues, seizure, mental retardation, hearing loss, diabetes mellitus, ocular abnormalities, photosensitivity, tryptophan metabolism, and hypospadias have been observed with this condition.  Each symptom needs to be addressed and treated carefully. Surgical excision, dermabrasion, electrodesiccation, and chemical peeling were among the traditional therapy techniques for pigmentary lesions. These medications could have undesirable consequences like dyspigmentation or scarring. All cases presenting with mixed hyper- and hypopigmented macules should consider this when making a differential diagnosis, and biopsy samples should be collected to confirm the diagnosis. However, sporadic variants of DUH have also been reported. DUH is frequently an autosomal dominant or occasionally an autosomal recessive genodermatosis. For this dermatological problem, there is currently no effective treatment. Consequently, early diagnosis can avoid the use of inefficient medications.  Symptoms: Photosensitivity. Freckling Hearing Impairment (Hyperacusis). Hyperpigmented Spots. Loss of Skin Colour. Short Stature. Condition: abnormalities of dermal connective tissue, nerve, and systemic conditions."

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