Management

Initial diagnosis

To establish the extent of disease and needs in an individual diagnosed with POIKTMP, the following evaluations are recommended:

• Dermatologic evaluation
• Physical therapy assessment
• Evaluation by pulmonary specialists including pulmonary function testing to evaluate restrictive lung disease and/or pulmonary fibrosis
• Muscle MRI to evaluate for progressive muscle involvement (optional)
• Blood tests:
  • Liver function: SGOT, SGPT, ALP, GGT
  • Baseline complete blood count with differential. Individuals with clinical evidence of anemia or cytopenias should be evaluated by CBC and bone marrow biopsy if clinically indicated.
• Fecal elastase level if steatorrhea is present
• Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

Dermatologic

• Avoidance of excessive sun exposure and use of sunscreens with both UVA and UVB protection.
• Pulsed dye laser can be discussed in older individuals as an option for cosmetic management of the telangiectatic component of the rash; however, no data on its use are available.
• Avoidance of excessive heat exposure and control of fever, especially in the first years of life to prevent overheating.
• Lymphedema management (manual lymphatic drainage, compression).
• Topical treatment for eczema-like lesions (emollients, topical steroids).

Muscle

• Physical therapy and exercise to promote mobility and prevent contractures.
• Calcium and vitamin D supplements may also be warranted in individuals with muscle weakness to prevent osteopenia.

Respiratory

• Use of self-inflating manual ventilation bag or mechanical insufflation-exsufflation device if needed.
• Noninvasive ventilation if needed.

Other features that require treatment

• Pancreas. Treatment of pancreatic exocrine insufficiency with pancreatic enzyme supplementation
• Liver. Treatment of cholestasis with ursodeoxycholic acid
• Growth. Enteral feeding as needed
• Cataract. Surgical removal of visually significant cataracts

Surveillance

Annual surveillance beginning at the time of diagnosis (to be adapted to patient’s symptoms):

• Dermatologic evaluation for poikiloderma, lymphedema of the limbs, eczema-like lesions, changes in the nails and hair
• Physical therapy assessment for muscle weakness or contractures
• Pulmonary function testing
• Blood test:
  • Complete blood count with differential
  • Liver function testing: SGOT, SGPT, ALP, GGT
  • Ophthalmologic examination
• Monitoring for orthopedic complications, especially contractures (with attention to Achilles tendon contractures) and scoliosis

Agents/Circumstances to Avoid

Avoid the following:

• Excessive sun exposure, which may exacerbate the rash
• Exposure to heat because of heat intolerance secondary to hypohidrosis