Depressed indurated plaque with elastorrhexis as a distinctive lesion in Buschke-Ollendorff syndrome.

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.

Osteopoikilosis With Germline LEMD3 Mutation Mimicking Bone Metastases in a Girl With a Concurrent Secreting Mixed Germ Cell Tumor.

Osteopoikilosis (OPK) is a rare, benign, asymptomatic bone disease causing dense bone lesions, which could be interpreted as bone metastasis. The symmetric distribution, lack of bone destruction, and location differentiate OPK from metastatic disease. It is essential to be aware of this benign condition to prevent diagnostic errors. We present the case of a 10-year-old female patient with the concurrent diagnosis of secreting mixed germ cell tumor with Yolk Salk Tumor compound and OPK. Physical examination disclosed an abdominal mass, and blood tests showed increased alfa-fetoprotein and human chorionic gonadotropin levels. Computed tomography revealed a pelvic tumor associated with multiple radiodense lesions distributed throughout the bone skeleton. Lesions were inactive on scintigraphy and FDG-PET. Pathology of the bone showed normal bone tissue and ruled out metastasis. The patient achieved complete remission after chemotherapy and surgery and remains in continued complete remission 28 months from diagnosis. The genetic analysis confirmed the LEMD3 germline mutation confirming OPK.

Osteopoiquilia / Osteopoikilosis

La osteopoiquilia es una displasia osteoesclerótica poco común. Es un trastorno genético raro pero benigno con transmisión genética autosómica dominante, caracterizado por múltiples áreas hiperostóticas, simétricas, pero con desigual distribución en diferentes partes del esqueleto. Generalmente es una enfermedad ósea asintomática que se desarrolla durante la infancia y persiste a lo largo de la vida. No hay evidencias exactas de su etiología y patogénesis. El diagnóstico suele ser incidental al realizar radiografías las cuales muestran múltiples y pequeñas áreas escleróticas, bien definidas, de forma variable y ampliamente distribuidas por el esqueleto. Se pueden confundir con otras entidades como metástasis osteoblásticas, así que la osteopoiquilia debe estar en el diagnóstico diferencial cuando identificamos lesiones óseas en la radiografía simple para evitar alarmar al paciente con un error diagnóstico o enfermedades más serias (AU)

Osteopoikilosis is an uncommon osteosclerotic dysplasia. It is a rare and benign autosomal dominant genetic disorder, characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. It is usually an asymptomatic bone disease that develops during childhood and persists throughout life. There is no exact evidence of its etiology and pathogenesis. Diagnosis is made incidentally from radiographs, which show multiple small, well defined, variably shaped and widely distributed sclerotic areas over the skeleton. It may be confused with other conditions, such as osteoblastic metastases. So, osteopoikilosis must be present in differential diagnosis when bone lesions are identified on plain radiographs to avoid alarming the patient with more serious diseases and misdiagnosis (AU)

Gastric cancer bone metastases together with osteopoikilosis diagnosed using bone scintigraphy and 18F-FDG PET/CT. / Coexistencia de metástasis óseas por cáncer gástrico y osteopoiquilia diagnosticadas mediante gammagrafía ósea y 18F-FDG PET/TC.

The coexistence of different bone diseases in the same patient involves a complex differential diagnosis. A patient is presented who was studied due to a renal mass that showed many sclerotic lesions in spine and limbs in conventional radiology and CT. These lesions were evaluated with 99mTC-HDP bone scintigraphy and 18F-FDG PET/CT, which helped to obtain the definitive pathological diagnosis of osteopoikilosis (OP) co-existing with gastric cancer bone metastases. Of the different imaging scans performed, bone scintigraphy was particularly relevant due to its ability to discriminate between benign and metastatic bone disease.

Buschke-Ollendorff syndrome: a novel case series and systematic review.

Buschke-Ollendorff syndrome (BOS) is a rare, often benign, autosomal skin disorder. BOS commonly presents with nontender connective tissue naevi and sclerotic bony lesions (osteopoikilosis [OPK]). Herein, we summarize the presenting features of BOS and potential associations by conducting a systematic review of the literature and summarizing a cohort seen at the Hospital for Sick Children (HSC), Toronto, Canada. PubMed was searched using the following terms: 'BOS'; 'dermatofibrosis lenticularis'; 'OPK'; 'LEMD3'; 'elastoma'; 'collagenoma'. Only case reports were included, without date or language restrictions. Cases were further narrowed to those where patients or their families had a combination of skin and bony lesions, or a positive genetic test. Data were summarized using frequencies. In total, 594 reports were discovered, of which 546 (92%) were excluded. The remaining 48 accounted for 164 cases. Skin lesions were noted in 24% of cases and bony lesions in 20%, while 54% of patients had both. In 1% of cases the diagnosis was made on genetic testing alone. A family history was noted in 92% of cases. All patients with spinal stenosis (2%) or shortened status (7%) had OPK. Six per cent of patients had neurological problems. However, 50% of the cohort from HSC had cognitive delays, and only cases from 2007 onwards reported cognitive delays (the prevalence was 17% among those cases). This review confirms the classical diagnostic features of BOS. In addition, it highlights a previously unreported association between a shortened stature and OPK, as well as a possible association with cognitive delays.

Ossifying fibroma in Buschke-Ollendorff syndrome.

Buschke-Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may show both connective tissue components. The disease results from mutations in LEMD3 (MAN1), which lead to enhanced transforming growth factor-ß (TGF-ß) signaling and resultant changes in fibroblast function. TGF-ß alterations have been implicated in a number of fibrotic disorders, and it is therefore not surprising that a range of cutaneous and skeletal abnormalities have been associated with Buschke-Ollendorff syndrome. Herein, we report a novel association between ossifying fibroma and Buschke-Ollendorff syndrome and discuss how these conditions are likely to be mechanistically linked.

Osteopoiquilia con afectación de la columna vertebral, una presentación atípica / Osteopoikilosis with involvement of the spine, an atypical presentation

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Unusual presentation of osteopoikilosis.

We present a case of osteopoikilosis in a 74-year-old woman with hip pain, presenting multiple osteoblastic lesions of the axial skeleton including an osteoblastic large lesion of her left femur. The imaging findings on X-rays and computed tomography are provided along with the discussion of the differential diagnosis on the basis of the recent literature.

Coexistence of osteopoikilosis with seronegative spondyloarthritis and Raynaud's phenomenon: first case report with evaluation of the nailfold capillary bed and literature review.

Osteopoikilosis (OPK) is a rare autosomal dominant bone disorder characterized by numerous hyperostotic areas that tend to localize in periarticular osseous regions. It is usually asymptomatic and is often diagnosed incidentally during X-rays. OPK may be an isolated finding or associated with other pathologies, e.g. skin manifestations, rheumatic and/or skeletal disorders. We report a literature review and, for the first time, the coexistence of OPK with seronegative spondyloarthritis and Raynaud's phenomenon in a 48-year old female. To the best of our knowledge, this is the first case of OPK studied by videocapillaroscopy, demonstrating the absence of specific microvascular abnormalities of nailfold capillaries.