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Macrodactyly

Article

Case History: A 12-year-old girl presented with history of enlargement of middle and ring fingers of right hand since birth.

Case History: A 12-year-old girl presented with history of enlargement of middle and ring fingers of right hand since birth. Size of the fingers was progressively increased. There was no associated pain or tenderness, skin over the fingers was normal. There was no history of any systemic disease. Radiograph of right hand revealed hypertrophy of all the phalanges of middle and ring fingers with overgrowth of overlying soft tissue and nail.

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Image 1 and 2: Radiograph of right hand, PA and oblique view showing overgrowth of phalanges and soft tissue of middle and ring fingers.

Abstract: Macrodactyly is a rare nonhereditary congenital malformation, which causes overgrowth of digits and fibro adipose tissues of one or more fingers and toes. Syndactyly is associated in 10 percent of cases.

Discussion: Macrodactyly is a rare benign congenital condition, which is presented with enlarged size of one or more finger or toe. All the elements of fingers or toes are enlarged, e.g. phalanges, muscles, tendons nerves, vessels, subcutaneous tissues, nails and skin. However metacarpals and metatarsals are not involved (1).

True macrodactyly must be differentiated with tumorous enlargement of single element like hamartoma, enchondroma or lymphangioma [2]. There are two types of macrodactyly: static and progressive forms. In static form the overgrowth is present at birth and there is proportionate growth of the digits. In progressive form the overgrowth may or may not present at birth, but begin to enlarge in early childhood frequently with an annular deformity [3]. Hands and feet are affected in equal frequency, slightly male predominance in reported overall cases [4], involvement of more than one digit may occur.

Macrodactyly is an isolated finding in most of the patients, however may be associated with rare syndromes, e.g. Proteus syndrome, Ollier disease, Maffuci syndrome and Bannayan syndrome. Although the cause is not known, three possible factors are responsible for it abnormal nerve supply, abnormal blood supply and abnormal humoral mechanism [3]. Diagnostic investigation is by radiography and CT scan for the extent of bone. Histopathology of macrodactyly is hypertrophy of bone with hamartomatous overgrowth of lipomatous or fibrous tissue.

Treatment: Various surgeries are described for macrodactyly bulk reduction (defatting), resection of nerves, finger shortening, angulation osteotomy and amputation [1]. Purpose of the surgery in these cases is to improve cosmetic appearance and preserve neurological function. Timing and extent of therapeutic measures should consider carefully for the best functional outcome [2].

References:
1 Kotwal P.P.,Farooque M. J Bone Joint Surg [Br] 1998;80-B:651-3.
2. Firdous Khan, Syed Asif Shah, Naji Ullah Khan, Irfan Ullah, Faheem Ullah. Pak J Surg 2010; 26(3):242-245
3.Sharma S,Vyas S,Negi A,Sood R G,A,Kaushik N K. Macrodactyly:Report of three cases.Indian J Radiol Imaging 2006;16:583-4
4.Kalen V, Burwell DS, Omer GE. Macrodactyly of the hands and feet. J Pediatr Orthop. 1988; 8: 311-15.

Pratiksha Yadav, MD, Assistant Professor, Department of Radiodiagnosis, Padmashree Dr. D. Y. Patil Medical College and Research Centre, Pimpri, Pune, Maharashtra, India

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