Incontinentia pigmenti (IP) is a rare X-linked dominant genetic disorder that affects the skin, hair, teeth, nails and central nervous system. It is named from its appearance under a microscope.The disease is characterized by skin abnormalities that begin in childhood, usually a blistering rash which heals, followed by the development of harder skin growths. The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails. Associated problems can include delayed development, intellectual disability, seizures and other neurological problems. Most males with the disease do not survive to childbirth. Incontinentia pigmenti is caused by a mutation in the IKBKG gene, which encodes the NEMO protein, which serves to protect cells against TNF-alpha-induced apoptosis. A lack of IKBKG therefore makes cells more prone to apoptosis. There is no specific treatment; individual conditions must be managed by specialists. Presentation
The skin lesions evolve through characteristic stages:
blistering (from birth to about four months of age),
a wart-like rash (for several months),
swirling macular hyperpigmentation (from about six months of age into adulthood), followed by
linear hypopigmentation.Alopecia, dental anomalies, and dystrophic nails are observed. Some patients have retinal vascular abnormalities predisposing to retinal detachment in early childhood. Cognitive delays or intellectual disability are occasionally seen.The discolored skin is caused by excessive deposits of melanin (normal skin pigment). Most newborns with IP will develop discolored skin within the first two weeks.
In anatomy, a persistent left superior vena cava is the most common variation of the thoracic venous system. It is present in between 0.3% and 0.5% of the population, and is an embryologic remnant that results from a failure to involute. Presentation
In persistent left superior vena cava, the left brachiocephalic vein does not develop fully and the left upper limb and head and neck drain into the right atrium via the coronary sinus.In isolation, the variation is considered benign, but is very frequently associated with cardiac abnormalities (e.g. ventricular septal defect, atrioventricular septal defect) that have a significant mortality and morbidity. It is more frequent in patients with congenital heart defects.The (right) superior vena cava is almost always unaffected by the presence of persistent left superior vena cava. Diagnosis
If an anomaly is detected during a routine ultrasound, a fetal echocardiogram is performed to determine whether a fetus has the condition. Otherwise, it is often unnoticed unless an extenuating circumstance warrants further examination of the heart, usually much later in life.CT and MRI scans in a parasagittal section may show a "pipe" sign where the left superior vena cava occurs. Treatment
If no other cardiac abnormalities are present, persistent left superior vena cava will not be treated, as it is usually asymptomatic and unharmful. If it drains into the left atrium, then deoxygenated blood enters the circulation to the body, and cyanosis may occur. References


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