Clinical Guidance

To date, 31 individuals have been identified with a pathogenic variant in FAM111B [, , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Individuals with hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) can exhibit few or many of the associated clinical features. The severity of the features (e.g., skin or muscle abnormalities) can vary. Intrafamilial clinical variability has been observed .

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"

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

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