Table 5.

Recommended Surveillance for Individuals with Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

System/ConcernEvaluationFrequency
Dermatologic Dermatologic eval for poikiloderma, lymphedema of the limbs, eczema-like lesions, changes in nails & hairAnnually &/or as needed
Orthopedic
complications
  • PT assessment for muscle weakness or contractures
  • Orthopedic eval for contractures (w/attn to Achilles tendon contractures) & scoliosis
Pulmonary disease Pulmonary function testing (FVC +/- chest CT scan w/DLCO)
Liver dysfunction Serum transaminases (SGOT, SGPT), alkaline phosphatase, & gamma-glutamyl transferase
Endocrine
complications
  • Blood ionogram (Na+, K+, Cl-HCO3-, Ca2+)
  • TSH
Thrombocytopenia,
eosinophilia 		Complete blood count w/differential
Cataract Ophthalmologic exam

DLCO = diffusing capacity of the lungs for carbon monoxide; FVC = forced vital capacity; PT = physical therapy

From: Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

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