A cross-sectional nationwide survey of osteosclerotic skeletal dysplasias in Japan

Osteomyelitis Possibly Caused by Exfoliation of Primary Teeth in a Patient with Osteopetrosis

“…Osteoblast dysfunction causes an inability to reabsorb and remodel bone [ 1 , 2 ]. The estimated incidence of osteopetrosis is 0.6 per 100,000 live births in Japan, which is similar to the rates in other countries [ 3 ]. Osteoporosis is classified into three clinical types based on severity and onset: early-onset and severe neonatal/infant, moderate-intermediate, and late-onset (adult) milder [ 1 , 2 , 3 ].…”

“…The estimated incidence of osteopetrosis is 0.6 per 100,000 live births in Japan, which is similar to the rates in other countries [ 3 ]. Osteoporosis is classified into three clinical types based on severity and onset: early-onset and severe neonatal/infant, moderate-intermediate, and late-onset (adult) milder [ 1 , 2 , 3 ]. The early-onset and severe neonatal/infant type and the moderate-intermediate type are inherited in an autosomal recessive manner, whereas the late-onset milder type is inherited in an autosomal dominant manner [ 1 , 2 , 3 ].…”

“…Osteoporosis is classified into three clinical types based on severity and onset: early-onset and severe neonatal/infant, moderate-intermediate, and late-onset (adult) milder [ 1 , 2 , 3 ]. The early-onset and severe neonatal/infant type and the moderate-intermediate type are inherited in an autosomal recessive manner, whereas the late-onset milder type is inherited in an autosomal dominant manner [ 1 , 2 , 3 ]. In the early-onset and severe neonatal/infant type, very young patients exhibit symptoms of bone marrow dysfunction (e.g., anemia, bleeding tendency, and susceptibility to infection), as well as clinically significant delayed growth, cranial nerve damage, hydrocephalus, and hypocalcemia; long-term survival may be impossible [ 1 , 2 , 3 ].…”

“…The early-onset and severe neonatal/infant type and the moderate-intermediate type are inherited in an autosomal recessive manner, whereas the late-onset milder type is inherited in an autosomal dominant manner [ 1 , 2 , 3 ]. In the early-onset and severe neonatal/infant type, very young patients exhibit symptoms of bone marrow dysfunction (e.g., anemia, bleeding tendency, and susceptibility to infection), as well as clinically significant delayed growth, cranial nerve damage, hydrocephalus, and hypocalcemia; long-term survival may be impossible [ 1 , 2 , 3 ]. In the moderate-intermediate type, patients exhibit fractures, osteomyelitis, and dental abnormalities during childhood [ 1 , 2 , 3 ].…”

“…In the early-onset and severe neonatal/infant type, very young patients exhibit symptoms of bone marrow dysfunction (e.g., anemia, bleeding tendency, and susceptibility to infection), as well as clinically significant delayed growth, cranial nerve damage, hydrocephalus, and hypocalcemia; long-term survival may be impossible [ 1 , 2 , 3 ]. In the moderate-intermediate type, patients exhibit fractures, osteomyelitis, and dental abnormalities during childhood [ 1 , 2 , 3 ]. In the milder late-onset type, patients exhibit symptoms such as bone fractures, osteomyelitis, and facial paralysis in adulthood [ 1 , 2 , 3 ].…”