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Proteus syndrome - Skin
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Proteus syndrome - Skin

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
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Synopsis

Proteus syndrome is characterized by asymmetrical overgrowth of various tissues and is a hamartomatous disorder of unknown cause. It is thought to be due to mosaicism from a genetic mutation, which is not genetically transmitted as it is presumed lethal in a non-mosaic state. It is rare with only 1-200 cases reported, with the sexes affected equally.

Clinical findings are highly variable. Hemihyperplasia (asymmetric overgrowth of the head, face, digits, or limb) are usually found. Overgrowth of the cranium, vertebrae, spleen thymus, or external auditory meatus may occur. This overgrowth is variably accompanied by epidermal nevi, vascular malformations, areas of dermal atrophy, connective tissue nevi (usually seen as thickening of the palms or soles), and pigmentary changes. Non-cutaneous changes include skeletal abnormalities (kyphosis, scoliosis, spinal canal stenosis), ocular changes (blindness, epibulbar tumors, cataract, strabismus), tooth abnormalities, myopathy, pelvic lipomatosis, amastia, goiter, testicular tumors, craniosynostosis, and congenital heart defects.

Complications include respiratory compromise or cord compression from spinal defects, major deformity and disability, and increased risk of venous thrombosis and pulmonary embolism. Most patients have normal intelligence, but some have learning disabilities or seizures.

Some manifestation is usually present at birth, but diagnosis may not be suspected until later infancy, depending upon the rate of overgrowth and appearance of skin lesions. Prognosis depends upon the severity of disease. Overgrowth progresses through childhood and then stabilizes.

Codes

ICD10CM:
Q87.3 – Congenital malformation syndromes involving early overgrowth

SNOMEDCT:
23150001 – Proteus syndrome

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Last Updated: 06/02/2017
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Proteus syndrome - Skin
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Proteus syndrome : Limb hypertrophy
Clinical image of Proteus syndrome
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