A very rare condition (<1% of congenital anomalies in large series). Recent breakthrough – Somatic mutation (cells of affected portions only) of PI3K(Phosphoinositol kinase). This causes a gain of function mutation. Rapamycin a drug is being tested for use. Most common form is nerve territory related macrodactyly. The most common nerve involved is the median nerve with an involvement of the thumb, index and middle fingers.
All structures in the involved fingers are enlarged (nerves, tendons, bones and soft tissue). Two types – static and progressive. Stiffness, pain, functional deficits and cosmetic appearance are the major problems. Progressive ones are very difficult to treat and many times may require amputation of the ray to improve hand function. Other procedures include – debulking, osteotomies, phlangectomy (removal of one of the phalanges). What are your experiences regarding…
