Westerhof syndrome

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Westerhof syndrome
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Synonyms
Pronounce
Specialty Genetics, Dermatology
Symptoms Hypopigmentation, skin lesions, neurological abnormalities
Complications N/A
Onset Childhood
Duration Lifelong
Types N/A
Causes Genetic mutation
Risks Family history
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Vitiligo, Piebaldism
Prevention N/A
Treatment Symptomatic treatment, skin camouflage
Medication
Prognosis Variable
Frequency Rare
Deaths N/A


Westerhof syndrome is a rare medical condition characterized by the combination of blue nevus, cellulitis, and giant pigmented nevus. It was first described by Dutch dermatologist Nardo Westerhof.

Symptoms and Signs

The primary symptoms of Westerhof syndrome include the presence of a blue nevus, cellulitis, and a giant pigmented nevus. The blue nevus is a type of mole that is blue in color due to the presence of pigment deep within the skin. Cellulitis is a common, potentially serious bacterial skin infection that can cause redness, swelling, and pain. A giant pigmented nevus is a large, darkly pigmented mole that can cover a significant portion of the body.

Causes

The exact cause of Westerhof syndrome is currently unknown. It is thought to be a genetic disorder, but the specific genes involved have not been identified.

Diagnosis

Diagnosis of Westerhof syndrome is based on the presence of the characteristic symptoms. A dermatologist may perform a skin biopsy to confirm the diagnosis.

Treatment

Treatment for Westerhof syndrome is primarily focused on managing the symptoms. This may include antibiotics for cellulitis and surgery to remove the giant pigmented nevus.

See Also

References

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Contributors: Prab R. Tumpati, MD