Clinical characteristics of 170 cases of macrodactyly / 北京大学学报(医学版)

OBJECTIVE@#To analyze the clinical characteristics of 170 cases of macrodactyly.@*METHODS@#Medical records of 170 macrodactyly patients at Beijing Jishuitan Hospital between March 2006 and October 2019, including demographic characteristics, clinical presentations, anatomical distributions, X-rays, pathological findings, and treatments, were reviewed. PIK3CA mutation analyses of 12 patients were also reviewed.@*RESULTS@#Disease incidence was similar across sex and geographical regions. Multiple-digit involvement was 3.9 times more frequent than single-digit involvement. In upper deformit: ies, the index finger, middle finger and thumb were mostly involved, and the second and third toes were the most affected on the foot. Two digits were affected more often than three digits, with the affected multiple digits were adjacent most time. The cases of progressive macrodactyly, in which the affected digits grew at a faster rate than the unaffected digits, were found more than static type. Most of progressive macrodactyly were noticed at birth. In terms of nerve involvement, affected fingers mostly occurred in the median nerve innervation area (79.4%) accompanied by median nerve and brunches enlargement and fat infiltration, i.e., nerve territory oriented; affected toes mostly occurred in the medial plantar nerve innervation area (89.1%), marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth, i.e., lipomatous. Only 17 cases had comorbid of syndactyly. The metacarpal bones were involved only in progressive type of macrodactyly. Ten of the 12 cases subjected to PIK3CA mutation analysis were positive. Among all tested specimens, PIK3CA mutation levels ranged from 7% to 27%. In terms of tissue sources in which a mutation was found, adipose tissue had the highest mutation detection rate, followed by nerve and skin. All the DNA samples of blood from the 12 PIK3CA mutation-positive patients were negative.@*CONCLUSION@#Macrodactyly fingers mostly occurred in the median nerve innervation area accompanied by median nerve and brunches enlargement and fat infiltration. The index and middle fingers were mostly involved. Macrodactyly toes mostly occurred in the medial plantar nerve innervation area, marked with overgrowth of adipose tissue with a lesser degree of neural overgrowth. The second and third toes were the most affected on the foot. A high proportion (83%) of isolated macrodactyly patients carry activating PIK3CA mutations. Adipose, nerve, and skin tissues provide the highest PIK3CA mutation detection yield among all types of tissue studied.

Clinical analysis of 73 cases of macrodactyly / 中华外科杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of 73 cases of macrodactyly.</p><p><b>METHODS</b>Review the incidence, distribution, characteristic, X-rays, pathogenesis and treatment of involved digits on the base of the clinical documents of 73 macrodactyly which were treated from 1965 to 2006. Twenty-eight cases had been followed-up.</p><p><b>RESULTS</b>Unilateral involved 71 cases, bilateral involved 2 cases. In upper deformities, the most involved digit was the index finger, followed by thumb and middle finger enlargement. In lower deformities, the second toes were affected more. There were 12 cases of static macrodactyly, which were all presented at or soon after birth. Sixty-one cases were progressive macrodactyly: 39 cases presented at birth; 17 cases occurred at about 2 years old; 5 cases were found after age 2. Thirty-seven cases of progressive type presented digital deviation; 3 cases associated with syndactyly; 16 cases complicated with thenar eminence hypertrophy; 8 cases of multiple-digit involved combined with palm and forearm hyperplasia.</p><p><b>CONCLUSIONS</b>Macrodactyly in hand has a preference for the median nerve territory, mainly involving index, thumb and middle finger. Pedal macrodactyly prefers medial plantar nerve territory, the second toe is the most commonly affected. The progressive macrodactyly is more common than static. It may present at birth and combine with syndactyly, digital deviation, thenar eminence hypertrophy, palm and forearm hyperplasia.</p>