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


  • 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).


  • 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.


  • 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


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