What is the most common extracutaneous involvement associated with pigmentary mosaicism?

What causes pigmentary mosaicism?

Pigmentary mosaicism is nowadays recognized as a pigmentary disorder caused by somatic chromosomal abnormalities disrupting or accelerating the function of pigmentary genes. Affected individuals with pigmentary mosaicism commonly have multiple congenital abnormalities, developmental delays and/or mental retardation.

What is segmental pigmentation disorder?

Segmental pigmentation disorder (SegPD) is a rare type of cutaneous dyspigmentation. This hereditary disorder, first described some 20 years ago, is characterized by hypo and hyperpigmented patches on the trunk, extremities and less likely on the face and neck.

What is genetic mosaicism and how does it arise?

Mosaicism occurs when a person has two or more genetically different sets of cells in his or her body. If those abnormal cells begin to outnumber the normal cells, it can lead to disease that can be traced from the cellular level to affected tissue, like skin, the brain, or other organs.

How common is nevus Depigmentosus?

The term nevus depigmentosus, however, is a misnomer, because the lesion is hypopigmented but not depigmented. The reported prevalence of nevus depigmentosus varies from 0.4% to 3%.

Can mosaicism be cured?

There is no cure for T8mS, but some symptoms of the condition may be treated. Treatment will vary depending on symptoms and severity. Symptoms with no associated health problems, such as facial deformities, may be difficult to treat and may require surgery. In some cases, heart surgery is also recommended.

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What is Hypomelanosis of Ito?

Hypomelanosis of Ito is a rare condition characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). These skin changes may present as patches, streaks or spiral-shaped (whorled) areas.

Is vitiligo an illness?

Vitiligo may be an autoimmune disease. These diseases happen when the person’s immune system mistakenly attacks some part of the body.

What causes blaschko lines to be visible?

They become apparent when some diseases of the skin or mucosa manifest themselves according to these patterns. They follow a “V” shape over the back, “S” shaped whirls over the chest and sides, and wavy shapes on the head. The lines are believed to trace the migration of embryonic cells.

Is Incontinentia Pigmenti dominant or recessive?

IP is an X-linked dominant genetic disorder caused by changes (mutations) in the IKBKG gene. IP was named based on the appearance of the skin under the microscope during the later stages of the condition.

What disease makes blaschko lines visible?

Diseases that cause blaschko’s lines include but are not limited to: Extragenital lichen sclerosus. Bart syndrome. Epidermal Nevus.