Progressive osseous heteroplasia. A case report and review of the literature.
Progressive osseous heteroplasia is a rare childhood disorder that is characterized by ectopic progressive ossification of skin, muscle, and connective tissue. We report a 5 year-old female patient with familial transmission. She developed cutaneous calcifications and ossifications within the first 2 months of life. Her father and father's aunt had subcutaneous nodules. At the age of 5 years, physical examination of the patient revealed ossified subcutaneous nodules and plaques on both upper limbs, the right side was predominantly affected. All the joints of the upper limbs were ankylosed except the left shoulder. Biopsy specimens of the patient and her father revealed islands of bone in the reticular dermis and deep dermis, respectively. We suggest that all family members of progressive osseous heteroplasia patients are carefully investigated for ossified nodules because of autosomal dominant inheritance.
Aynaci
Osman
O
Department of Orthopaedic Surgery, Karadeniz Technical University Faculty of Medicine, Trabzon, Turkey.
Müjgan Aynaci
F
F
Cobanoğlu
Umit
U
Alpay
Köksal
K
D001132:Arm; D001706:Biopsy; D002648:Child; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation / Q000235:genetics; D009999:Ossification, Heterotopic / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D010375:Pedigree; D011379:Prognosis; D016059:Range of Motion, Articular; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics*
D019205:GTP-Binding Protein alpha Subunits, Gs