Nicolau–Balus syndrome

Nicolau–Balus syndrome is a rare genodermatosis characterized by the presence of multiple cutaneous and systemic abnormalities. It is also known as angiokeratoma corporis diffusum with neurodegenerative disorder. This syndrome is named after the Romanian dermatologists Aurelian Nicolau and Constantin Băluț, who first described the condition.

Clinical Features

The primary clinical features of Nicolau–Balus syndrome include:

• Angiokeratoma: These are small, dark red to purple papules that can appear on various parts of the body, including the trunk, extremities, and genitalia.
• Neurodegenerative disorder: Patients may exhibit signs of progressive neurological decline, including ataxia, dementia, and seizures.
• Cardiovascular abnormalities: These can include cardiomyopathy, arrhythmias, and other heart-related issues.
• Renal involvement: Some patients may develop renal insufficiency or other kidney-related problems.
• Ocular abnormalities: These can include corneal opacities, cataracts, and other eye-related issues.

Diagnosis

The diagnosis of Nicolau–Balus syndrome is primarily clinical, based on the characteristic skin lesions and associated systemic features. Histopathology of the skin lesions typically shows angiokeratoma with hyperkeratosis, acanthosis, and dilated blood vessels in the dermis. Genetic testing may also be performed to identify any underlying genetic mutations associated with the syndrome.

Management

There is no specific treatment for Nicolau–Balus syndrome. Management is primarily supportive and symptomatic, focusing on the individual patient's needs. This may include:

• Dermatological care: Treatment of skin lesions with laser therapy or other dermatological procedures.
• Neurological care: Management of neurological symptoms with medications and supportive therapies.
• Cardiovascular care: Monitoring and treatment of heart-related issues.
• Renal care: Management of kidney-related problems.

Prognosis

The prognosis for individuals with Nicolau–Balus syndrome varies depending on the severity of the systemic involvement. Early diagnosis and supportive care can improve the quality of life for affected individuals.

See Also

• Genodermatosis
• Angiokeratoma
• Neurodegenerative disorder
• Cardiomyopathy
• Renal insufficiency

External Links

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