gms | German Medical Science

Objectives/Interrogation: Macrodactyly is an unusual congenital deformity, characterized by the exaggerated growth of a finger or segment, leading to a poor function limb and inacceptable aesthetic. There is no specific cause and different surgeries should be chosen depending on patient's conditions and clinical presentation. This study objective to collect data from the literature including epidemiology, pathophysiology, clinical presentation and classification; understand the different surgical techniques already described, their indications and results; and report the author's experience.

Methods: It has been done literature review about macrodactyly in databases and medical records. The author's patients were follow since the first medical appointment until 2017. Some patients were lost in contact. It was obtained pictures of patients hands, before and after surgical treatment.

Results and Conclusions: Literature shows an incidence of macrodactyly of 0.9%, manifesting at birth or at the first three years of life, predominantly unilateral. Soft tissues and bones are enlarged, with the palmar face and extremities being more involved. Most are not genetically inherited, but may be associated with syndromes as Ollier, Maffucci, Klippel-Trenaunay-Weber, and Proteus. Theories about the etiology include pathological alteration of the peripheral nerve, increased blood supply or hormonal disturbance. The pathology is divided in four types, being type 1 the more common, related to lipofibromatosis. Indications of surgical treatment are exaggerated and progressive growth, angular deformity, carpal tunnel syndrome and causalgia. Among the surgical techniques are found from soft tissue procedures, such as slimming of the fingers, resection of nerve segments, towards processes such as epiphysiodesis, shortening, filming or amputation of the distal phalanx, osteotomies for correction of deformities, falangectomy and amputation of the whole finger or segment. The main surgical indications among author's patient were exaggerated and progressive growth.

The multiplicity of presentations of macrodactyly and the variety of surgical techniques described makes the treatment challenging. The author concludes that it was not possible to select a single surgical technique for all patients and the treatment is always individualized. It is important to instruct parents about prognosis and results, once it will not be possible to obtain a normal segment despite correct treatment.