ABSTRACT
@#Isolated progressive macrodactyly belongs to a heterogeneous group of congenital overgrowth syndromes, resulting in enlargement of all tissues localized to the terminal portions (fingers or toes) of a limb. The aim of this case report is to create further awareness among physicians on this rare clinical entity and present a short review of the literature. We present the case of a 10-year-old Nigerian girl with a history of progressive overgrowth of left thumb since birth. The patient‟s facies and body habitus were normal without hemihypertrophy. Anthropometric measurements of the child‟s hands, revealed an overgrowth of the left thumb compared with the right. The child had no café-au-lait spots or any other skin lesions. The radiograph of the hands revealed increase in size of both soft tissue and phalangeal bones (enlongated and broadened) of the left thumb. A diagnosis of isolated progressive left thumb macrodactyly was made and the patient was referred to the orthopaedic surgeon for surgical intervention. The child and her parents suffered psychological distress. Isolated progressive macrodactyly is very rare but it is cosmetically displeasing to the child, resulting in psychological distress.
ABSTRACT
Macrodystrophia lipomatosa (ML), is a Rare cause of non-hereditary localized gigantism, due to the progressi-ve proliferation of mesenchymal tissue, with a disproportionate increase of fibroadipose tissue in one or more digits of the affected extremity. This congenital abnormality occurs more frequently in the distribution of the median nerve (arm) and plantar nerve (leg). Etiology is uncertain, and it is frequently misdiagnosed as another cause of macrodactylia. This paperõreports a case of a 6 y.o. boy who presented overgrowth of the lst and 2nd digit of the right foot, and slight increase of the 3rd digit in the other foot. A multidisciplinary evaluation was performed, corresponding to the second case reported in Venezuela.
La Macrodistrofia lipomatosa (ML), es una causa infrecuente de gigantismo localizado, no hereditario caracterizado por proliferación progresiva de todos los elementos mesenquimáticos, con un incremento desproporcionado en el tejido fibroadiposo en uno o más dedos de la extremidad afectada. Esta anormalidad congénita ocurre más frecuentemente en la distribución del nervio mediano en el miembro superior y nervio plantar en el miembro inferior. La etiología de la ML es incierta y es una entidad clínica que con frecuencia es diagnosticada erróneamente como otras formas de macrodactilia. Reportamos el caso de un escolar de 6 años de edad quien presentó sobrecremiento de 1º y 2º ortejo del pie derecho y leve aumento del 3º ortejo del pie contralateral. Esta paciente fue evaluada de forma multidisciplinaria en nuestra institución y corresponde al segundo caso de MLõreportado en Venezuela.