Penetrance

To the authors' knowledge the penetrance of POIKTMP is 100%, with occurrence of skin features in early childhood.

Source: GeneReviews — "Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis"

Diagnostic Criteria

Suggestive Findings

Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) should be suspected in individuals with the following clinical and imaging findings.

Clinical findings

Source: GeneReviews — "Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis"

Differential Diagnosis

Disorders with phenotypic similarity to hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) are summarized in . Notably, unlike POIKTMP, the disorders in are not associated with muscle contractures, myopathy, or exocrine pancreatic insufficiency. Table 2. Genes and Disorders to Consider in the Differential Diagnosis of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

Source: GeneReviews — "Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis"

Clinical Guidance

Avoid the following:

• Excessive sun exposure, which may exacerbate the rash

• Exposure to heat because of heat intolerance secondary to hypohidrosis

Source: GeneReviews — "Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Source: GeneReviews — "Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis"

Surveillance Guidelines

Table 5.

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

System/Concern | Evaluation | Frequency

Dermatologic

| Dermatologic eval for poikiloderma, lymphedema of the limbs, eczema-like lesions, changes in nails hair | Annually /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

Source: GeneReviews — "Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis"