A 16-year-old male patient was admitted to our hospital after he had been involved in a car accident. Various radiographs which were taken showed the presence of multiple oval densities measuring 1–12 mm. A secondary clinical examination revealed the presence of numerous and disseminated flesh-colored, firm papules on his hands, wrists, back and shoulders, measuring 5–8 mm.
The radiographs from the lower leg, pelvis, shoulder and knee revealed the presence of multiple, small, well-defined and variably shaped sclerotic areas (i.e., located in the epiphyses and metaphyses of the long bones). Such sclerotic areas were seen especially in the femur, tibia, heel, acetabulum and humerus. Sporadic lesions could be seen in the fibula, talus, sacrum and the tarsals. The involvement was symmetrical and widely distributed. Neither similiar sclerotic areas nor other pathological findings could be demonstrated regarding the spine, clavicle, ribs, scapula and the cranium.
Osteopoikilosis is a rare hereditary autosomal-dominant sclerosing bone dysplasia, which is more common in males. Because of the asymptomatic character of the disease, the diagnosis is usually confirmed incidentially from radiographs. The radiographs show the presence of multiple small sclerotic areas in a symmetrical distribution. The common locations where osteopoikilosis occurs are, in particular, the pelvis, heel, tarsals and epiphyses versus metaphyses of humerus, tibia and femur. The histological findings revealed that there are focal condensations of compact lamellar bone within the spongiosa. In this case, the cutaneous manifestation of flesh-colored, small papules confirms the diagnosis of osteopoikilosis combined with the Buschke–Ollendorff syndrome (1,2). Prior awareness of the presence of osteopoikilosis is important to avoid misdiagnosis of bony (i.e.osteoblastic) metastases. Osteopathia striata, an autosomal-dominant or sporadic inherited disorder, shows typical vertical linear (not oval) dense striations (i.e. remnants of secondary spongiosa). In some special cases, skin abnormalities (poikiloderma), papillomas of the mucous membranes, abnormalities of eyes, kidney and deformities of the skeleton versus cranial sclerosis have been described (2). Melorheostosis typically reveals an irregular thickening of the cortical bone part, like candle-wax dripping, and is sometimes associated with muscular and skin involvement or neuropathy. This disease can show monostotic, monomelic or polyostotic distribution, especially regarding the lower limbs (3, 4). Osteopetrosis (autosomal-recessive or autosomal-dominant inherited disorder) radiologically reveals abnormal sclerosis regarding the endochondral ossification, due to a failure in the resorption of primary spongiosa. Two phenotypes can be distinguished. In type I, more uniform sclerosis is present in the skull, spine and long bones, whereas the presence of endobones and Rugger–Jersey spine is revealed in type II (4). The Camurati–Engelmann disease, an autosomal-dominant inherited disease, usually involves only the diaphyses of the long bones via cortical thickening in an endosteal and periosteal manner. Typically, the external contour of the affected bone (i.e. tibia, femur, fibula, humerus, skull, ulna and radius) is regular and the medullary space is narrowed (5).
Osteopoikilosis.
Based on the provided X-ray images, multiple, relatively symmetrical small patchy or ovoid dense lesions can be seen, measuring approximately 1–12 mm, located in the shoulders, spine, and pelvis. The lesion borders are well-defined and maintain a good relationship with the surrounding bony structures, without obvious signs of bone destruction or fractures. From the patient’s history, these findings were discovered incidentally during examinations for trauma, suggesting that the lesions may have a chronic and relatively stable course.
Additionally, multiple skin lesions measuring 5–8 mm were observed on the patient’s hands, wrists, back, and shoulders. These appear as flesh-colored, fairly firm papules, indicating a possible systemic connection with the bony changes.
This is a sclerosing bone disorder inherited in an autosomal dominant pattern, often found incidentally on imaging studies. Radiological features typically include multiple small patchy areas of bone sclerosis, commonly seen in the pelvis, calcaneus, tarsal bones, and the metaphyses or epiphyses of long bones. If associated with fibrous xanthoma-like lesions of the skin (Buschke–Ollendorff syndrome), multiple flesh-colored papules can appear. The patient’s imaging findings and skin features are highly consistent with this condition.
On X-rays, vertical or striated dense bands are seen instead of ovoid or punctate sclerotic foci, and they can sometimes be associated with skin lesions (such as eruptive-like rashes or mucosal papillomas). The typical finding is a linear sclerotic band, which does not precisely match the multiple ovoid dense lesions seen in this case.
This presents as solitary or multiple irregular thickening of the bone cortex, resembling “wax dripping from a candle.” It is often accompanied by local soft tissue or nerve involvement, and the distribution is usually asymmetric. In this case, there is no clear “dripping wax” thickening of the bone cortex, and the lesions are symmetrically distributed, making this diagnosis less likely.
Due to dysfunctional osteoclasts and impaired bone resorption, diffuse “marble-like” increased bone density can occur. There are autosomal recessive and autosomal dominant forms. The patient does not show widespread diffuse sclerosis or the “bone-in-bone” appearance, nor the typical “Rugger–Jersey spine” changes.
This disease typically shows cortical thickening of the diaphysis and metaphysis of long bones, with relatively regular bone contours on imaging and possible narrowing of the medullary cavity. It is frequently accompanied by limb pain and muscle weakness. In this case, diffuse cortical thickening of long bones is not observed, and the clinical presentation does not match.
Considering the patient’s age, multiple ovoid sclerotic foci on imaging, multiple flesh-colored papules on the skin, and the incidental discovery during trauma evaluation, the most likely diagnosis is:
Osteopoikilosis Coexisting with Buschke–Ollendorff Syndrome
This syndrome is associated with an autosomal dominant pattern, characterized by sclerotic bone spots (osteopoikilosis) on imaging and fibrous xanthoma-like lesions of the skin.
The patient is currently in adolescence. A healthy and active lifestyle with appropriate exercise can promote normal bone and muscle development and help prevent long-term risks such as osteoporosis from prolonged inactivity. It is recommended to follow these principles:
Notably, if moderate to severe trauma occurs or there is any lower limb dysfunction, relevant movements should be halted promptly, and medical evaluation should be sought to ensure the safety of joints and bones.
Disclaimer: This report is for reference and cannot replace in-person consultations or professional medical advice. If you have any questions or changes in your condition, please seek medical care promptly for targeted diagnosis and treatment recommendations.
Osteopoikilosis.
