Isolated Gigantism of Digits
A
term newborn was noted to have isolated gigantism of the right second and third toes involving metatarsal bones and the surrounding soft tissues (Figure). The rest of the findings of his clinical examination were unremarkable. No family history of limb hyperplasia, neurofibromatosis, or congenital malformations was elicited. Isolated macrodactyly is a rare nonhereditary congenital malformation presenting with localized, usually asymmetric gigantism of single/multiple digits or the entire limb as the result of fibroadipose tissue hypertrophy. Other terminology include partial acromegaly, dactylomegaly, limited gigantism, macrodactyly, and macrodystrophia
lipomatosa.1 It was first described by Feriz2 in 1925 as partial gigantism of the lower extremity. The exact cause is unknown; however, Rios et al3 described a novel mutation that is genetically and biochemically related to other overgrowth syndromes. The mutation in their proband was identified only in the affected tissue (ie, absent in the blood), suggesting mosaicism. The tissue overgrowth usually affects distal parts of extremities and tends to pertain to specific sclerotomes. The affected region tends to continue its growth only until puberty. Plain radiographs of involved extremities and digits usually reveal bony hypertrophy and prominent soft tissues. Clinical diagnosis of isolated macrodactyly can sometimes be difficult; the differential includes neurofibromatosis type 1, fibrolipomatous hamartoma, lymphangiomatosis, Klippel-Trenaunay-Weber syndrome, Ollier disease, Maffucci syndrome, and Proteus syndrome.4 In contrast to isolated macrodactyly, however, either a positive family history or cutaneous or systemic manifestations usually are present in all aforementioned conditions. Isolated macrodactyly poses a difficult surgical dilemma. To achieve functional and aesthetic improvement, patients may require multistage reconstructive surgery and/or amputation.5 n Arman Babajanyan, MD, FRACP, MPH, PhD Sydney Medical School – Nepean
Ralph Nanan, Dr Med Habil (Germany), FRACP Anthony Liu, MBBS, FRACP, MPH, MMedEd Sydney Medical School – Nepean Charles Perkins Centre – Nepean The University of Sydney Penrith, New South Wales, Australia
References
Figure. Patient with overgrowth of affected digits on the right foot with corresponding radiograph. J Pediatr 2014;165:874. 0022-3476/$ - see front matter. Copyright ª 2014 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2014.06.004
874
1. Krengal S, Morales AF, Carrcasco P, Vazquez M, Mickinster CD, Maldonado RR. Macrodactyly: report of eight cases and review of the literature. Pediatr Dermatol 2000;17:270-6. 2. Feriz H. Macrodystrophia lipomatosa Progressive. Virchows Arch Pathol Anat Physiol Klin Med 1925;260:308-68. 3. Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, et al. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet 2013;22:444-51. 4. Khan F, Shah S, Khan N, Ullah I, Ullah F. Our experience with macrodactyly: a rare congenital anomaly. Pak J Surg 2010;26: 242-5. 5. Cerrato F, Eberlin KR, Waters P, Upton J, Taghinia A, Labow BI. Presentation and treatment of macrodactyly in children. J Hand Surg Am 2013; 38:2112-23.
A
term newborn was noted to have isolated gigantism of the right second and third toes involving metatarsal bones and the surrounding soft tissues (Figure). The rest of the findings of his clinical examination were unremarkable. No family history of limb hyperplasia, neurofibromatosis, or congenital malformations was elicited. Isolated macrodactyly is a rare nonhereditary congenital malformation presenting with localized, usually asymmetric gigantism of single/multiple digits or the entire limb as the result of fibroadipose tissue hypertrophy. Other terminology include partial acromegaly, dactylomegaly, limited gigantism, macrodactyly, and macrodystrophia
lipomatosa.1 It was first described by Feriz2 in 1925 as partial gigantism of the lower extremity. The exact cause is unknown; however, Rios et al3 described a novel mutation that is genetically and biochemically related to other overgrowth syndromes. The mutation in their proband was identified only in the affected tissue (ie, absent in the blood), suggesting mosaicism. The tissue overgrowth usually affects distal parts of extremities and tends to pertain to specific sclerotomes. The affected region tends to continue its growth only until puberty. Plain radiographs of involved extremities and digits usually reveal bony hypertrophy and prominent soft tissues. Clinical diagnosis of isolated macrodactyly can sometimes be difficult; the differential includes neurofibromatosis type 1, fibrolipomatous hamartoma, lymphangiomatosis, Klippel-Trenaunay-Weber syndrome, Ollier disease, Maffucci syndrome, and Proteus syndrome.4 In contrast to isolated macrodactyly, however, either a positive family history or cutaneous or systemic manifestations usually are present in all aforementioned conditions. Isolated macrodactyly poses a difficult surgical dilemma. To achieve functional and aesthetic improvement, patients may require multistage reconstructive surgery and/or amputation.5 n Arman Babajanyan, MD, FRACP, MPH, PhD Sydney Medical School – Nepean
Ralph Nanan, Dr Med Habil (Germany), FRACP Anthony Liu, MBBS, FRACP, MPH, MMedEd Sydney Medical School – Nepean Charles Perkins Centre – Nepean The University of Sydney Penrith, New South Wales, Australia
References
Figure. Patient with overgrowth of affected digits on the right foot with corresponding radiograph. J Pediatr 2014;165:874. 0022-3476/$ - see front matter. Copyright ª 2014 Elsevier Inc. All rights reserved. http://dx.doi.org/10.1016/j.jpeds.2014.06.004
874
1. Krengal S, Morales AF, Carrcasco P, Vazquez M, Mickinster CD, Maldonado RR. Macrodactyly: report of eight cases and review of the literature. Pediatr Dermatol 2000;17:270-6. 2. Feriz H. Macrodystrophia lipomatosa Progressive. Virchows Arch Pathol Anat Physiol Klin Med 1925;260:308-68. 3. Rios JJ, Paria N, Burns DK, Israel BA, Cornelia R, Wise CA, et al. Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly. Hum Mol Genet 2013;22:444-51. 4. Khan F, Shah S, Khan N, Ullah I, Ullah F. Our experience with macrodactyly: a rare congenital anomaly. Pak J Surg 2010;26: 242-5. 5. Cerrato F, Eberlin KR, Waters P, Upton J, Taghinia A, Labow BI. Presentation and treatment of macrodactyly in children. J Hand Surg Am 2013; 38:2112-23.
