Saturday, June 15, 2024

Proteus Syndrome

Background

Proteus syndrome is a rare condition that can be loosely categorized as a hamartomatous disorder. It is a complex disorder with multisystem involvement and great clinical variability. Once thought to have neurofibromatosis, Joseph Merrick (also known as “the elephant man” and studied by Treves in the 19th century) is now, in retrospect, thought by clinical experts to actually have had Proteus syndrome.

This condition is characterized by various cutaneous and subcutaneous lesions, including vascular malformations, lipomas, hyperpigmentation, and several types of nevi. Cerebriform nevi are thought to be characteristic of the disorder.
Progressive, asymmetrical limb overgrowth is pathognomonic, and patients have an unusual body habitus. Because cutaneous lesions tend to appear over time, the diagnosis may be delayed until late infancy, childhood, or even adulthood. Orthopedic complications often pose the most challenging medical problems, although vascular complications also contribute to overall morbidity. Severe disfigurement and social stigmatization are additional challenges that must be addressed.

Examples of various malformations and physical symptoms in Proteus syndrome are shown in the images below.

Macroglossia and hemifacial overgrowth associated

Macroglossia and hemifacial overgrowth associated with hyperpigmentation.

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Port wine stain on the trunk with small epidermal

Port wine stain on the trunk with small epidermal nevus.

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Macrodactyly with splaying of toes after toe reduc

Macrodactyly with splaying of toes after toe reduction procedure.

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Ear enlargement associated with cutaneous hyperpig

Ear enlargement associated with cutaneous hyperpigmentation and hemifacial macrosomia.

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Scoliosis with scar resulting from prior surgical

Scoliosis with scar resulting from prior surgical resection of a large subcutaneous lipoma.

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Evidence of proximal muscle wasting of the upper e

Evidence of proximal muscle wasting of the upper extremities.

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Hypertrophy of the thighs and calves.

Hypertrophy of the thighs and calves.

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Profile demonstrating retrognathia.

Profile demonstrating retrognathia.

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Patient education

Patients and their families can be referred to the Proteus Syndrome Foundation.

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