Makrodaktylie ruky a koincidence s mírnou formou Polandova syndromu: Přehled a kazuistika českého chlapce
Abstrakt
Isolated macrodactyly of the hand is a rare severe congenital disease that is usually not inherited. It occurs in approximately 1/50,000-1/100,000 live births.
The clinical findings and presentation with apparent territorial soft tissue and bone overgrowth are pathognomonic of lipomatosis of nerves, which involves benign fibro-fatty infiltration. The aims of this presentation is to summarize the current knowledge about the etiopathogenesis of hand macrodactyly, where somatic gain of function mutations of the PIK3CA gene, which can be recently detected in the affected tissue, play a key role in the development of this disease.
The main aim is to present the result of surgical correction of overgrown phalanges of the 3rd and 4th fingers in a boy aged 11.5 years, who was also diagnosed with a mild form of Poland syndrome. The aim of the first operation was reduction of lipofibromatous tissue, neurolysis of the n. medianus and digital nerves, release of the carpal tunnel and arrest of the growth of the affected fingers by drilling epiphysiodesis.
Histological and histochemical investigation proved nerve with lipofibromatous tissue of the palm. The timing of this operation was based on the method of anthropometric prediction of bony overgrowth of the affected fingers using comparative radiographs of both hands, data for hand growth from anthropometric research and comparison with the radiograph of the patient's father's hand.
The second operation was performed at 12 years and 10 months to remove hypertrophic scars and deepen the interdigital space between the 3rd and 4th toes. The result of surgical treatment at the age of 14 years and 3 months can be assessed as relatively good in terms of cosmetic and functional aspects.
However, progression of lipofibromatous hamartoma n. medianus at older age and premature osteoarthritis of the digital joints of the affected fingers cannot be excluded. Surgical treatment of hand macrodactyly should be left exclusively to those trained in congenital hand deformities.
As tissue from the pathological lesion was not available at present, it was not yet possible to investigate somatic pathogenic variants in the AKT1 and PIK3CA genes. No pathogenic or likely pathogenic variant was found from blood samples.
The coincidence of macrodactyly and incompletely expressed Poland syndrome in our patient deserves attention.