Individuals affected with POIKTMP have skin features (poikiloderma) typically beginning in the first six months and mainly localized to the face and often have swelling of legs or arms, eczema, heat intolerance due to poor sweating, and little hair (eyelashes, eyebrows and scalp hair).
They may also have muscle contractures beginning in childhood and progressive muscle weakness. Another common feature is fat malabsorption (due to exocrine pancreatic insufficiency). Some adults develop progressive interstitial pulmonary fibrosis, which can be life-threatening.
FAM111B