Table 4. [Proteus Syndrome: Treatment of Manifestations]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Skeletal overgrowth	Mgmt per orthopedist Epiphysiostasis & epiphysiodesis for overgrowth of tubular bones ¹	One intervention that the authors have found to be detrimental to persons w/PS is distraction osteotomy (Ilizarov procedure) performed on the normal (shorter) limbs. ²
Mgmt by rehab medicine, incl PT & OT Custom-designed footwear or orthotics due to leg-length inequality	The skeletal overgrowth of PS can result in significant biomechanical & functional compromise.
Scoliosis	Referral to orthopedist if scoliosis is identified on clinical &/or radiographic exam Frequent monitoring due to risk of rapid progression ² Surgery is often indicated, as progressive nature of scoliosis can lead to fatal restrictive lung disease.	Scoliosis surgery is high risk in persons w/PS; DVT & PE have led to death even w/prophylactic anticoagulation. ³
CCTN	Mgmt by dermatologist Monitor for pressure ulcerations & malodor (due to difficulty w/cleanliness of deepening sulci in late adolescence) Pedorthic referral as needed for issues w/shoe fit	Surgical removal of CCTN has been successfully accomplished in ≥2 persons.
Overgrowth of lipomatous tissue / lipoatrophy	Open surgical approaches are preferred to liposuction because highly vascularized lipomatous overgrowth in some persons can result in difficult-to-control hemorrhaging &/or chronically weeping lymphatics. ¹	Mgmt is challenging because areas of adipose overgrowth are not encapsulated & discrete (in contrast to lipomas), can be difficult to resect, & commonly regrow after surgical debulking.
DVT & PE	Emergent eval for signs/symptoms of DVT (e.g., palpable subcutaneous rope-like mass, swelling, erythema, pain, distal venous congestion) or PE (e.g., shortness of breath, chest pain, cough, hemoptysis). Eval for DVTs: in absence of cardiopulmonary compromise, consider D-dimer assay &/or US eval. Eval of PE: high-resolution chest CT (spiral CT) w/contrast. Ventilation-perfusion nuclear medicine scanning may be appropriate in some persons. Treatment of DVT & PE should follow recommended anticoagulation guidelines for these disorders.	Persons w/PE can be asymptomatic; therefore, a person w/DVT should be evaluated for PE regardless of symptoms. Note: Hematologic consultation for consideration of anticoagulant prophylaxis for persons undergoing surgery or other procedures that may predispose to DVT/PE is recommended.
Tumors	Treatment for tumors per surgeon &/or oncologist ¹
Bullous pulmonary disease	Pulmonary eval for persons w/bullous pulmonary disease Resection of large bullous lesions may be indicated in some persons. ¹	Bullous disease in context of scoliosis can pose significant & complex challenges for appropriate mgmt.
Developmental delay	Developmental & educational support incl special education as needed for those w/developmental delays.
Psychosocial issues	Psychosocial counseling as needed	Although PS is exceedingly rare, a robust support group infrastructure exists, & many families find this very helpful (see Resources).

Manifestation/Concern

Treatment

Considerations/Other

Skeletal overgrowth

Mgmt per orthopedist
Epiphysiostasis & epiphysiodesis for overgrowth of tubular bones ¹

One intervention that the authors have found to be detrimental to persons w/PS is distraction osteotomy (Ilizarov procedure) performed on the normal (shorter) limbs. ²

Mgmt by rehab medicine, incl PT & OT
Custom-designed footwear or orthotics due to leg-length inequality

The skeletal overgrowth of PS can result in significant biomechanical & functional compromise.

Scoliosis

Referral to orthopedist if scoliosis is identified on clinical &/or radiographic exam
Frequent monitoring due to risk of rapid progression ²
Surgery is often indicated, as progressive nature of scoliosis can lead to fatal restrictive lung disease.

Scoliosis surgery is high risk in persons w/PS; DVT & PE have led to death even w/prophylactic anticoagulation. ³

CCTN

Mgmt by dermatologist
Monitor for pressure ulcerations & malodor (due to difficulty w/cleanliness of deepening sulci in late adolescence)
Pedorthic referral as needed for issues w/shoe fit

Surgical removal of CCTN has been successfully accomplished in ≥2 persons.

Overgrowth of lipomatous tissue / lipoatrophy

Open surgical approaches are preferred to liposuction because highly vascularized lipomatous overgrowth in some persons can result in difficult-to-control hemorrhaging &/or chronically weeping lymphatics. ¹

Mgmt is challenging because areas of adipose overgrowth are not encapsulated & discrete (in contrast to lipomas), can be difficult to resect, & commonly regrow after surgical debulking.

DVT & PE

Emergent eval for signs/symptoms of DVT (e.g., palpable subcutaneous rope-like mass, swelling, erythema, pain, distal venous congestion) or PE (e.g., shortness of breath, chest pain, cough, hemoptysis).

Eval for DVTs: in absence of cardiopulmonary compromise, consider D-dimer assay &/or US eval.
Eval of PE: high-resolution chest CT (spiral CT) w/contrast. Ventilation-perfusion nuclear medicine scanning may be appropriate in some persons.
Treatment of DVT & PE should follow recommended anticoagulation guidelines for these disorders.

Persons w/PE can be asymptomatic; therefore, a person w/DVT should be evaluated for PE regardless of symptoms.
Note: Hematologic consultation for consideration of anticoagulant prophylaxis for persons undergoing surgery or other procedures that may predispose to DVT/PE is recommended.

Tumors

Treatment for tumors per surgeon &/or oncologist ¹

Bullous pulmonary disease

Pulmonary eval for persons w/bullous pulmonary disease
Resection of large bullous lesions may be indicated in some persons. ¹

Bullous disease in context of scoliosis can pose significant & complex challenges for appropriate mgmt.

Developmental delay

Developmental & educational support incl special education as needed for those w/developmental delays.

Psychosocial issues

Psychosocial counseling as needed

Although PS is exceedingly rare, a robust support group infrastructure exists, & many families find this very helpful (see Resources).

From: Proteus Syndrome

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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