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.
Does pigmentary mosaicism go away?
Pigmentary mosaicism is a permanent color change in the skin. We are not able to change the genetic material to make the skin color the same.
What is the most common extracutaneous involvement associated with pigmentary mosaicism?
The most frequently reported extracutaneous anomalies were skeletal deformities, seizures, mental retardation, dysmorphic facial features, and developmental delay.
What is genetic mosaicism and how does it arise?
What is mosaicism? 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.
Is Vitiligo a mosaic?
Clinical findings in vitiligo challenge the widely accepted organ specific autoimmune pathomechanisms. We draw the attention to the fact that the distribution of segmental vitiligo (SV) fits in at least a subset of patients a pattern usually associated with cutaneous mosaicism.
What is Blaschkoid Dyspigmentation?
It is also referred to as hypomelanosis of ito, Blaschkoid dyspigmentation, linear and whorled nevoid hypermelanosis and segmental pigmentation disorder. It is caused from a post-zygotic mutation of skin cells effecting melanin production and is most often sporadic.
What is a mosaic phenotype?
1) Mosaicism results from the mutation in part of somatic cells after the fertilization, only a few cases occur due to mutation during meiosis. Mosaicism is characterized by genetic or functional difference of two or more cell lines in one individual from one zygote.
What is hypo pigmentation?
Hypopigmentation in skin is the result of a reduction in melanin production. Examples of hypopigmentation include: Vitiligo: Vitiligo causes smooth, white patches on the skin. In some people, these patches can appear all over the body. It is an autoimmune disorder in which the pigment-producing cells are damaged.
What is Incontinentia?
Summary. Incontinentia pigmenti (IP) is a genetic ectodermal dysplasia affecting the skin, hair, teeth, microvasculature, and central nervous system. Progressive skin changes occur in four stages, the first of which appear in early infancy or can be present at birth.
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.