We evaluated a 7-year-old girl with severe platelike osteoma cutis (POC), a variant of progressive osseous heteroplasia (POH). The child had congenital heterotopic ossification of dermis and subcutaneous fat that progressed to involve deep skeletal muscles of the face, scalp, and eyes. Although involvement of skeletal muscle is a prominent feature of POH, heterotopic ossification has not been observed in the head, face, or extraocular muscles. The cutaneous ossification in this patient was suggestive of Albright hereditary osteodystrophy (AHO); however, none of the other characteristic features of AHO were expressed. Inactivating mutations of the GNAS1 gene, which encodes the ␣-subunit of the stimulatory G protein of adenylyl cyclase, is the cause of AHO. Mutational analysis of GNAS1 using genomic DNA of peripheral blood and of lesional and nonlesional tissue from our patient revealed a heterozygous 4-base pair (bp) deletion in exon 7, identical to mutations that have been found in some AHO patients. This 4-bp deletion in GNAS1 predicts a protein reading frameshift leading to 13 incorrect amino acids followed by a premature stop codon. To investigate pathways of osteogenesis by which GNAS1 may mediate its effects, we examined the expression of the obligate osteogenic transcription factor Cbfa1/RUNX2 in lesional and uninvolved dermal fibroblasts from our patient and discovered expression of bone-specific Cbfa1 messenger RNA (mRNA) in both cell types. These findings document severe heterotopic ossification in the absence of AHO features caused by an inactivating GNAS1 mutation and establish the GNAS1 gene as the leading candidate gene for POH.
Fractures of the hip in children have been associated with a very high rate of serious complications including avascular necrosis (up to 47%) and coxa vara (up to 32%). Over a period of 20 years, we have treated displaced fractures by early anatomical reduction, internal fixation and immobilisation in a spica cast to try to reduce these complications. We have reviewed 18 patients who had a displaced non-pathological fracture of the hip when under 16 years of age. Their mean age at the time of the injury was eight years (2 to 13). They returned for examination and radiography at a mean follow-up of eight years (2 to 17). Each patient had been treated by early (" 24 hours) closed or open reduction with internal fixation and 16 had immobilisation in a spica cast. By Delbet's classification, there was one type-I, eight type-II, eight type-III, and one type-IV fractures. There were no complications in 15 patients. Avascular necrosis occurred in one patient (type-III), nonunion in one (type-II, one of the two patients who did not have a cast) and premature physeal closure in one (type-I). There were no cases of infection or complications as a result of the cast. Our treatment of displaced hip fractures in children by early reduction, internal fixation, and immobilisation in a spica cast gave reduced rates of complications compared with that of large published series in the literature.
Fractures of the hip in children have been associated with a very high rate of serious complications including avascular necrosis (up to 47%) and coxa vara (up to 32%). Over a period of 20 years, we have treated displaced fractures by early anatomical reduction, internal fixation and immobilisation in a spica cast to try to reduce these complications.We have reviewed 18 patients who had a displaced non-pathological fracture of the hip when under 16 years of age. Their mean age at the time of the injury was eight years (2 to 13). They returned for examination and radiography at a mean follow-up of eight years (2 to 17). Each patient had been treated by early (t 24 hours) closed or open reduction with internal fixation and 16 had immobilisation in a spica cast. By Delbet's classification, there was one type-I, eight type-II, eight type-III, and one type-IV fractures. There were no complications in 15 patients. Avascular necrosis occurred in one patient (type-III), nonunion in one (type-II, one of the two patients who did not have a cast) and premature physeal closure in one (type-I). There were no cases of infection or complications as a result of the cast.Our treatment of displaced hip fractures in children by early reduction, internal fixation, and immobilisation in a spica cast gave reduced rates of complications compared with that of large published series in the literature. Unlike adults, healthy children rarely sustain a fracture of the femoral neck the incidence of which is less than 1% of all paediatric fractures.1 It is usually the result of highenergy injury. Previous studies have reported a high rate of complications, including avascular necrosis, coxa vara, premature physeal closure, nonunion and infection.
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