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Mysterious gene mutation: How can skin color change dramatically in just a few months?
In the medical community, Incontinentia pigmenti (IP) is a particularly rare X-linked dominant genetic disorder that often displays noticeable symptoms on the skin, hair, teeth, and nervous system. The condition takes its name from its microscopic appearance and manifests primarily in childhood, often with a vesicular rash that later develops into tougher skin growths. Over time, the affected skin may develop gray or brown patches that gradually fade. In addition to skin changes, IP can cause hair loss, dental abnormalities, vision loss, and abnormal fingernails and toenails, among other symptoms.
Pathological features of IP include: vesicular phase (from birth to about four months of age), tumor-like rash (lasting for several months), swirling mottled pigmentation (from about six months of age to adult life), and strips Hypochromia phenomenon.
To further complicate matters, IP may be accompanied by delayed cognitive development, intellectual disability, and other neurological problems such as epilepsy. Visible skin discoloration is caused by excess melanin deposition, which is the source of normal skin color. Most newborns develop skin discoloration within the first two weeks of life. The discoloration usually involves the trunk and extremities and ranges in color from slate gray to blue to brown and is distributed in irregular wolf stripes or waves. As we age, these discolorations sometimes fade.
Genetic background
The inheritance of IP is X-linked dominant, which means that to become a carrier, a woman only needs to inherit the defective gene from either parent, but most men miscarry before birth because of this disease. Female carriers have a 50% chance of passing on the defective gene to their offspring, but in fact, 86% of miscarriages are caused by affected male babies. This results in approximately 33% of live births from carrier mothers being unaffected females, 33% being defective females, and 33% being unaffected males.
IP is caused by mutations in the IKBKG gene, which encodes the NEMO protein, which protects cells from TNF-alpha-induced apoptosis.
Diagnosis process
Usually, the diagnosis of IP relies on clinical examination and occasionally skin biopsy. Molecular genetic testing of the IKBKG gene (located on chromosome Xq28) can reveal disease-causing mutations in approximately 80% of cases. This test is now clinically available, and patterns of X-chromosome inactivation in female IP patients can be used to support diagnosis.
In the past, many patients were misdiagnosed due to symptoms similar to another condition called "Hypomelanosis of Ito" (incomplete pigmentation). The latter is not hereditary and does not include the first or second stage skin symptoms that are characteristic of IP.
Current treatment options
Currently, there is no specific treatment for IP, and available strategies can only manage individual symptoms, as each patient's situation is unique. For different conditions, patients may require professional treatment from clinical experts.
Historical review
The disease was first reported by Swiss dermatologist Bruno Bloch in 1926 and further described in 1928 by American dermatologist Marion Sulzberger. This condition was studied.
Some patients may face challenges involving multiple systems, including abnormal effects on the visual, skeletal, and neurological systems.
As science advances, we may be able to learn more about this mysterious genetic variation and its profound impact on patients' lives. There will be more questions waiting for us to explore and answer in the future: So, will these genetic variations change our view of human health and disease?
