Buschke-Ollendorff syndrome presenting with asymptomatic yellowish papules and leg length discrepancy: A case report.

Buschke-Ollendorff syndrome (BOS) is a rare, usually benign, autosomal dominant genetic disease affecting about 0.005% globally. BOS commonly manifests with asymptomatic connective tissue nevi, sometimes with sclerotic bone lesions like osteopoikilosis or melorheostosis. However, BOS may develop severe, symptomatic complications that require surgical intervention. Here we report a 9-year-8-month girl presenting with multiple nonpruritic, nonpainful skin plaques scattered around the trunk, buttocks, and bilateral legs. She had a history of right varus foot with inadequate plantar flexion. Upon visiting, obvious leg length discrepancy (LLD) was noted. Lesional biopsy revealed increased fibroblasts within dermal collagen bundles. Verhoeff-van Gieson stain revealed scattered foci of thickened elastic fibers between collagen fibers, especially in the mid-dermis. Radiographic examination of the lower extremities showed multiple small, round-to-oval shaped, radiopaque spots on the pelvic bones, femurs, tibiae, and both feet. Hyperostosis along the long axis with "dripping candle wax" appearance was characteristic of osteopoikilosis and melorheostosis. Genetic analysis showed heterozygous point mutation in exon 1 of LEMD3 gene (c.1323C>A, p.Y441X), confirming diagnosis of BOS. Sequential and epiphyseodesis were performed to correct LLD with a favorable outcome at 2-year follow-up. BOS associated with severe bone abnormalities is rare, but orthopedic surgical intervention can provide satisfactory outcome.

Buschke-Ollendorff syndrome with LEMD3 germline stopgain mutation p.R678* presenting as multiple subcutaneous nodules with mucin deposition.

Buschke-Ollendorff syndrome (BOS; OMIM 166700) is a rare autosomal dominant disorder characterized by the existence of connective tissue nevus and/or osteopoikilosis. The skin lesions usually present as firm, yellow, or flesh-colored papules and nodules, which may coalesce into plaques and increase in size and number over time. We present a case of a 26-year-old male with multiple subcutaneous nodules on the waist and thigh for more than 20 years. Being deeply seated, his skin lesions were not visible and could only be appreciated by palpation. Accordingly, pathology showed an increase in thick, crossed, or paralleled, elastic fibers arranged between the collagen bundles in the lower part of the reticular dermis and the subcutaneous fat with mucin deposition. Heterozygous point mutation in exon 8 of the LEMD3 gene was detected, which confirmed the diagnosis of BOS. The deeply situated nature of skin lesions noted in our case has not been reported in the literature of BOS. Our case thus expands the clinical and pathological features of the disease.

Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease.

Buschke-Ollendorff syndrome (BOS) is a rare genetic hereditary genodermatosis characterized by benign skeletal and cutaneous lesions. Skeletal alterations known as osteopoikilosis (OPK) or "spotted bone disease" are asymptomatic areas of sclerosing dysplasia. Two skin lesion patterns have been described because they may be of either elastic tissue (juvenile elastoma) or collagenous composition (dermatofibrosis lenticularis disseminata). We present the case of a 6-year-old male patient with yellowish papules that coalesced to form plaques localized on both thighs and on the upper limbs consistent with a connective tissue nevus (CTN) diagnosis. X-ray examination of the skeletal system revealed the presence of multiple small areas (measuring between 1 and 7 mm) of increased bone density (OPK) bilaterally. A skin biopsy was performed and did not show striking alterations in the number or dimension of the extracellular matrix fibers, but it showed mucin deposition between them, which is compatible with a CTN. This study reports on the clinical presentation and histological examination of this unusual disease.

Elastoma: clinical and histopathological aspects of a rare disease

Abstract Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease.

Elastoma: clinical and histopathological aspects of a rare disease.

Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease.

[Buschke-Ollendorff syndrome in two generations imitated Calvé-Legg-Perthes disease]. / Buschke-Ollendorffs syndrom i to generationer imiterende Calvé-Legg-Perthes' sygdom.

Buschke-Ollendorff syndrome is a rare condition characterized by skin manifestations and osteopoikilosis. We describe a mother and her son who presented with indurated skin lesions suggestive of connective tissue naevi. X-rays showed multiple symmetrical foci of osteosclerosis. They had both been diagnosed earlier with Calvé-Legg-Perthes disease, which on revision most likely represented Buschke-Ollendorff syndrome. Buschke-Ollendorff syndrome may imitate Calvé-Legg-Perthes disease. Skin signs may be the clue to diagnosis. Main differentials are sclerotic bone metastases and osteoma.

Buschke-Ollendorff syndrome: sparing unnecessary investigations.

Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical patterns. These cases emphasize the importance of heightened suspicion of BOS in selected cases. Identifying BOS can be reassuring for the patient, sparing futile and expensive investigations.

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.

Osteopoikilosis masquerading as osseous metastases in breast cancer.

Osteopoikilosis (OPK) is a rare, congenital bone disorder characterised by multiple round or ovoid radio densities appearing throughout the axial and appendicular skeleton. It is usually an asymptomatic condition diagnosed incidentally on radiological imaging, and may mimic other bone disorders, including osseous metastases. In this case report, we present a patient with lobular breast cancer whose computed tomography findings were thought to be consistent with osseous cancer metastases. Radionuclide bone scintigraphy plays a key role in distinguishing OPK from osteoblastic bone metastases. This case demonstrates the importance of a clinical awareness of OPK to ensure that patients with potentially curable disease are properly diagnosed.

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.

Connective tissue nevi in children: institutional experience and review.

BACKGROUND: Connective tissue nevi (CTN) are circumscribed hamartomas of the skin in which there is an abnormal mixture of normal components of the dermis that may be sporadic or associated with syndromes such as Buschke-Ollendorff, tuberous sclerosis, and Proteus. OBJECTIVE: We sought to specify the clinical and histologic features of CTN in childhood and to propose a diagnostic approach and updated classification. METHODS: This was a retrospective study in a tertiary pediatric outpatient population, accessing clinical and histopathological records. RESULTS: We classified 114 cases of CTN from 1980 to 2008. LIMITATIONS: The majority of cases were confirmed by histopathological examination. Therefore, our series excludes many CTN that were not biopsied. In addition, follow-up was variable. CONCLUSION: Our series demonstrates the usefulness of a modified classification for CTN. Biopsy should be done when clinical diagnosis is uncertain, or in multiple lesions. When biopsy is performed it should include normal-appearing skin for comparison and, in Buschke-Ollendorff syndrome, limited anterior-posterior x-rays of the hands, wrists, feet, ankles, knees, and pelvis instead of a full skeletal survey.

Radiology and morphology of spotted bone: a case report with review of literature.

Spotted bone disease (osteopoikilosis) is a rare type of osteosclerotic dysplasia usually noticed as an incidental finding during routine radiological investigations. Here we report a case of a male patient who had chronic history of right wrist pain and low backache. His radiographs showed unique morphological features of the bones. The upper end of femora, pelvic bones showed multiple small discrete, round and oval, radiodense lesions which were symmetrical in distribution. The lesions were more obvious at the epiphysis and metaphysis. The case was finally diagnosed to have spotted bone disease. In this report we emphasize on the radiological anatomy of this condition with clinical highlights. The importance of its differential diagnosis is stressed with relevant review of the literature. We believe that this report is enlightening not only for orthopedicians and radiologists, but also for the clinical anatomists and researchers in the field of medicine.

Connective tissue nevi: an entity revisited.

BACKGROUND: Connective tissue nevi (CTN) may be isolated, either sporadic or hereditary, or syndromic as in the Buschke-Ollendorff syndrome. Few publications have addressed the variable clinical and histopathologic expression of these benign hamartomas. OBJECTIVE: We sought to characterize the clinical and histopathologic features of CTN and to highlight a spectrum of clinical disease. METHODS: We carried out a retrospective study of cases selected after strict clinical and histopathologic confirmation of the diagnosis. RESULTS: A total of 33 patients with CTN were included. The average age of onset was 2 years. Three clinical forms were distinguished: type A with lesions at a single site, with one case presenting as an ulcerated infiltrated plaque; type B with two or more sites of involvement; and type C with unusually severe infiltration with functional impairment of a limb. Histopathologic examination of lesional biopsy specimens showed 10 collagenomas, one elastoma, 18 mixed CTN, and an increased number of fibroblasts in 4 cases. No correlation between clinical type and histopathologic findings was observed. LIMITATION: This was a descriptive case series. CONCLUSIONS: CTN comprise a clinical spectrum ranging from isolated papules to unusually severe aggressive plaques with monomelic involvement. The histopathologic features are heterogeneous and include a newly described variant, which we name "cellular CTN" because of the increased number of fibroblasts.