Sarcopedia

SYSTEMIC GENETIC Syndrome Increased malignancy risk requires surveillance Macroglossia and exomphalos characteristic Imprinting disorder on 11p15

SYSTEMIC GENETIC Syndrome Bilateral jaw involvement pathognomonic Self-limiting with regression after puberty SH3BP2 mutations definitive

Bilateral symmetric femoral/tibial osteosclerosis is characteristic BRAF V600E testing important for targeted therapy Multisystem involvement common

SYSTEMIC GENETIC Syndrome Germline TP53 mutations Very High cancer predisposition Avoid unnecessary radiation and chemotherapy

SYSTEMIC GENETIC Syndrome Combination enchondromatosis + hemangiomas VERY High malignancy risk IDH1/2 mutations acquired

SYSTEMIC GENETIC Syndrome GNAS somatic mutations Cafe-au-lait spots + precocious puberty classic Polyostotic Fibrous dysplasia characteristic Malignancy risk Low but present

SYSTEMIC GENETIC Syndrome EXT1/2 mutations define HME Multiple bilateral osteochondromas pathognomonic Monitor Cartilage caps for malignancy risk

SYSTEMIC GENETIC Syndrome NF1 mutations cause Neural and skeletal manifestations High malignancy risk requires close surveillance MPNST transformation of neurofibromas critical concern

SYSTEMIC GENETIC Syndrome Multiple enchondromas throughout skeleton High malignancy risk requires close surveillance Distinguished from hereditary multiple exostoses (different genes)

SYSTEMIC GENETIC Syndrome RB1 germline mutations High secondary malignancy risk Requires lifetime surveillance

Benign histiocytic disorder Often self-limited Resembles malignancy clinically but Benign

SYSTEMIC GENETIC Syndrome RECQL4 mutations cause DNA repair defect Increased osteosarcoma risk Poikiloderma and cataracts characteristic

WRN mutations cause DNA repair defect Premature ageing Syndrome VERY High malignancy risk