What is Bloch-Sulzberger syndrome(Incontinentia pigmenti)

Bloch-Sulzberger syndrome is also known as Incontinentia pigmenti (IP), Bloch Siemens syndrome, naevus pigmentosus systematicus, and melanoblastosis cutis. It is neurocutaneous disorders that characterized by patterns of discolored skin also involve the brain, eyes, nails, and hair.

Causes of Bloch-Sulzberger syndrome

The main cause of this disease is mutations in a gene (known as a NEMO) .This disease is mostly causes in males rather then females. An excessive deposit of melanin is the reason of discolored skin. The discoloration fades with age. Neurological problems include cerebral atrophy (The formation of small cavities in the central white matter of the brain) and the loss of neurons in the cerebellar cortex.

Signs and Symptoms of Bloch-Sulzberger syndrome

Symptoms of Bloch-Sulzberger syndrome:-

1) papules (Red bumps) and vesicles (fluid-filled blisters) erupt on reddened skin
2) Thickened, wart-like areas appear on reddened skin and form patches or whorls
3) Brown or slate-gray skin appears in streaks and whorls (usually on the chest and back)
4) Pale streaked or networked patches develop, most noticeably on the legs

These are the main symptoms in different stages of  Bloch-Sulzberger syndrome. Some other symptoms of Bloch-Sulzberger syndrome includes

1) Abnormal teeth
2) serious vision problems
3) Neurological problems
a) developmental delay
b) seizures
c) mental retardation
d) brain malformations
e) difficulty walking
4) Hair losses on the head

Treatment of Bloch-Sulzberger syndrome (Incontinentia pigmenti)

There is no particular treatment of Incontinentia pigmenti.Generally the treatment of the skin lesions is not required. Diminished vision may be treated with corrective lenses, medication, or, in severe cases, surgery. Medication and/or medical devices are used to treat the Neurological symptoms (such as mild paralysis, seizures and muscle spasms). A specialist may treat dental problems.

Prevention of Bloch-Sulzberger syndrome (Incontinentia pigmenti)

Genetic counseling may be of value for prospective parents with a family history of IPS.