Mutation in the FAM111B gene causes a disease called POIKTMP (for Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis). This entity is mainly characterized by skin, muscle, pancreatic and lung features.
Prevalence
POIKTMP is a very rare disease. The prevalence is unknown. To date only 28 individuals with identified FAM111B mutation have been reported. The condition is likely underdiagnosed.
Inheritance
POIKTMP is inherited in an autosomal dominant manner. Each child of an affected parent has a 50% chance of inheriting the disease. Features may vary among affected members of the same family. Skin features seem to be constant.