Proteus syndrome - Skin
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.
Q87.3 – Congenital malformation syndromes involving early overgrowth
23150001 – Proteus syndrome
- Klippel-Trenaunay syndrome has signs that are limited to one extremity.
- Neurofibromatosis typically has a family history. A physical exam or eye exam may help differentiate this diagnosis.
- Encephalocraniocutaneous lipomatosis
- Bannayan-Riley-Ruvalcaba syndrome is autosomal dominant macrocephaly, multiple lipomas, and hemangiomata.
- Maffucci syndrome consists of enchondroma with multiple angiomas.