Progressive diaphysiary dysplasia or Camurati-Engelmann syndrome: First case with molecular analysis in Mexico

This is a report of the first case of Progressive Diaphyseal Dysplasia (PDD) with molecular diagnosis in Mexico. Is a 35-year-old woman with a medical history of stabilization of the dorsal spine for correcting scoliosis at eight years. She presented development puberal delay, low weight, right scoliosis, upper and lower limbs disproportion, dolichostenomelia, cutaneous syndactyly, low muscular mass and movement limitations. Laboratory tests showed secondary hyperparathyroidism. Radiologically she presented rotoscoliosis, thickness of the cortical long bones in upper and lower limbs, tubular hyperostosis and medullary channel narrowing bilaterally. Other data were sensory hearing loss, pulmonary arterial hypertension and bone densitometry with Z score of +4.8 for lumbar spine, +5.7 for femoral neck, and +4.4 for total hip. Skull tomography showed thickening of the inner table at the level of all the bones. Sequencing of the transforming growth factor beta 1 ( TGFB1) gene was performed; a missense mutation c.652C > T was found in exon 4, codon 218 (CGC > TGC), confirming the diagnosis of PPD or Camurati-Engelmann disease. This disease no has gender or ethnic predisposition; sporadic and familial cases have been described. Is a rare syndromic disease characterized by exaggerated bone formation, it is important to determine the molecular genetic study. • We found a variant of mutation of the TGFB1 gene of Progressive Diaphyseal Dysplasia. • It is the first reported genetic report of Camurati-Engelmann Syndrome in Mexico. • Vitamin D deficiency is present either due to lack of consumption or increased use. • Thickening of the cortical bone and diaphysis helps guide the diagnosis. • There are no confirmed therapies to stop bone formation for this disease.