ABSTRACT
Buschke-Ollendorff syndrome (BOS) is a rare autosomal dominant genodermatosis caused by heterozygous mutations in LEMD3 and characterized by connective tissue nevi and sclerotic bone lesions known as osteopoikilosis. We report a family with three individuals affected by BOS, two of whom manifested clinical and histopathological peculiarities, presenting with a depressed indurated plaque as the main cutaneous manifestation instead of the classic connective tissue nevi. Notable elastorrhexis was present in both biopsies.
Subject(s)
Osteopoikilosis/etiology , Skin Diseases, Genetic/complications , Skin Diseases, Genetic/pathology , Skin Diseases/etiology , Adult , Child , Female , Humans , Male , Osteopoikilosis/complications , Osteopoikilosis/genetics , Osteopoikilosis/pathology , Skin Diseases, Genetic/geneticsABSTRACT
No disponible
Subject(s)
Humans , Male , Middle Aged , Osteopoikilosis/diagnostic imaging , Radius Fractures/diagnostic imaging , Orthopedic Procedures/methods , Osteopoikilosis/etiology , Osteopoikilosis/physiopathology , Wrist/diagnostic imaging , Wrist/pathology , Hand/diagnostic imaging , Hand/pathology , Radius Fractures/pathology , Diagnosis, DifferentialABSTRACT
We report a case of mixed sclerosing bone dysplasia in a 26-year-old man. This is a very rare disorder characterized by a variable combination of melorheostosis, osteopoikilosis and osteopathia striata. The disease may be generalized or may show unilateral involvement.
Subject(s)
Melorheostosis/diagnosis , Melorheostosis/etiology , Osteopoikilosis/diagnosis , Osteopoikilosis/etiology , Adult , Femur/diagnostic imaging , Femur/pathology , Foot/diagnostic imaging , Foot/pathology , Humans , Male , Radiography , Tibia/diagnostic imaging , Tibia/pathologySubject(s)
Multiple Trauma/complications , Osteopoikilosis/etiology , Radius Fractures/complications , Ulna Fractures/complications , Acetabulum/diagnostic imaging , Adult , Femur Head/diagnostic imaging , Humans , Male , Osteopoikilosis/diagnostic imaging , Radiography , Radius/diagnostic imaging , Radius/injuries , Tibia/diagnostic imagingABSTRACT
On the basis of literature and own observation a very rare form is discussed of skeletal system anomaly--osteopoikilosis+ which is considered to be a genetically determined, benign skeletal dysplasia. It manifests itself with numerous spotty densities of bony structure situated usually near the joints of long bones. They may be erroneously regarded as malignant metastases. The reported case of osteopoikilosis+ conformis the hereditary character of the disease.
Subject(s)
Osteopoikilosis/diagnostic imaging , Adult , Femur/diagnostic imaging , Humans , Male , Metatarsus/diagnostic imaging , Osteopoikilosis/etiology , Osteopoikilosis/genetics , Radiography , Skull/diagnostic imagingSubject(s)
Osteopoikilosis/diagnosis , Osteosclerosis/diagnosis , Adult , Humans , Male , Osteopoikilosis/etiologyABSTRACT
Two familial observations of Birt-Hogg-Dubé syndrome are reported. In fact they were cases of tuberous sclerosis. The authors comment that probably this syndrome is an expression form of tuberous sclerosis.
