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