Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

System/ConcernEvaluationComment
Skin Dermatologic eval
Muscle PT assessmentMuscle MRI to evaluate for progressive muscle involvement is optional.
Lung Eval by pulmonary specialists incl pulmonary function testing to evaluate for restrictive lung disease &/or pulmonary fibrosis
Pancreas Fecal elastase level if steatorrhea is present
Liver Serum transaminases (SGOT, SGPT), alkaline phosphatase, & gamma-glutamyl transferase
Growth/
Nutrition 		Growth assessment for short stature &/or poor weight gain
Hematologic Complete blood count w/differential
Eye Ophthalmologic exam to evaluate for cataracts or other ocular abnormalities
Genetic
counseling 		By genetics professionals 1To inform patients & their families re nature, MOI, & implications of POIKTMP in order to facilitate medical & personal decision making
Family support
& resources 		Assess:

MOI = mode of inheritance; PT = physical therapy

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

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

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