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Buschke-Ollendorff syndrome is an association of connective tissue nevi and osteopoikilosis that usually appears in the first decades of life. The nevi occur on the trunk and extremities. In a 48-year-old man with this rare syndrome the connective tissue nevus was located on the scalp and was pruritic. Histologically, involvement of the epidermis with cystic dilatation of the hair follicles and an abnormality of mucopolysaccharides were present. The nevi in this syndrome may involve an alteration in the three components of connective tissue to a variable degree.
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PMID:Buschke-Ollendorff syndrome of the scalp: histologic and ultrastructural findings. 205 Aug 47

The Buschke-Ollendorff syndrome is a rare disorder of uncertain etiology characterized by osteopoikilosis and connective tissue nevi. An unusual presentation of this syndrome is described that involves both the cutaneous and skeletal manifestations affecting the hand. The bones of the hand and carpus are a common site for osteopoikilosis. Connective tissue nevi of the hand may require excision for diagnosis or mechanical impingement. Special elastin stains must be done on these cutaneous lesions to confirm the diagnosis. Routine hematoxylin-eosin stains may fail to show any pathologic change in mild cases.
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PMID:Connective tissue nevus and osteopoikilosis in the hand: the Buschke-Ollendorff syndrome. 273 41

Buschke-Ollendorff syndrome or dermatofibrosis lenticularis disseminata with osteopoikilosis is a rare autosomal dominant condition characterized by focal sclerotic bone dysplasia and associated connective tissue nevi. The following case report not only illustrates classic findings in this disease but also demonstrates previously reported, but little known features.
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PMID:Buschke-ollendorff syndrome. 682 65

The Buschke-Ollendorff syndrome is an association of cutaneous lesions, dermatofibrosis lenticularis disseminata, with osteopoikilosis. This condition is inherited in an autosomal dominant pattern. In order to clarify the biochemical nature of the skin lesions, we have examined 12 patients with the Buschke-Ollendorf syndrome, representing 2 unrelated kindreds. Histologically, the lesions were characterized by excessive amounts of unusually broad, interlacing elastic fibers in the dermis. Digestion of skin secretions with pancreatic elastase completely removed these fibers. Electron microscopy of the dermis further revealed markedly branched elastic fibers without fragmentation. The accumulation of elastin in the skin was also demonstrated by measurements of desmosine employing a radioimmunoassay. The desmosine content of the skin lesions increased 3- to 7-fold when compared to the skin either from healthy controls or from uninvolved skin adjacent to a lesion. The results indicate that the skin lesions of the Buschke-Ollendorff syndrome are connective tissue nevi of the elastin type. Cell cultures from these patients may provide a convenient model to study the control mechanisms involved in elastin metabolism.
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PMID:Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorff syndrome. 720 30

The Buschke-Ollendorff syndrome (BOS) is a rare connective tissue disorder inherited in an autosomal dominant pattern characterized by cutaneous lesions, dermatofibrosis lenticularis disseminata, and osteopoikilosis. We report a new case of this syndrome in a 66 year old man, interesting by its association with a protein C deficiency, another rare genetically transmitted disease. Diagnosis of the BOS is difficult on the mere cutaneous lesions; it is therefore important to systematically practice bone X-rays in the presence of atypical pseudoxanthoma elasticum, disseminated collagenoma or disseminated connective tissue or elastic nevi. The radiologically detectable osteopoikilotic bone lesions, evoking Paget's disease, easily sign the diagnosis. In our case, the association of a protein C deficiency with the BOS may not be fortuitous because both the elastin and protein C genes are localized on chromosome 2q.
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PMID:[Buschke-Ollendorff syndrome]. 779 62

A 36-year-old short-statured grande multipara (gravida 10, para 8) with diabetes mellitus and hyperlipidaemia was incidentally found to have Buschke-Ollendorff syndrome (osteopoikilosis and dermatofibrosis lenticularis disseminata). The pelvis and hips, followed by the knees, were the sites mainly affected by the osteopoikilosis. The lumbosacral spine was also affected. She had a single connective tissue naevus on the right thigh. Apart from two abortions, the repeated pregnancies were uneventful and all her deliveries were normal at full-term or nearly full-term. With regard to the relationship between Buschke-Ollendorff syndrome and multiparity, it was apparent that multiparity did not affect the involved weight bearing bony structures, nor did the disseminated osteopoikilosis interfere with the endurance of multiple pregnancies. Buschke-Ollendorff syndrome is known generally to have a benign course, a feature that is illustrated in this case, even when associated with the stresses of multiparity. The report also provides a short and updated review of various clinical aspects of the syndrome and its associations, some of which are of a serious nature.
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PMID:Buschke-Ollendorff syndrome in a grande multipara: a case report and short review of the literature. 964 21

We report a 5-year-old boy presenting with multiple elastic type nevi and osteopoikilosis who was diagnosed as having Buschke-Ollendorff syndrome at an early age. Connective tissue lesions may present as the main symptom of varying clinical entities with different outcomes. Differential diagnosis includes papular elastorrhexis, fibroelastolytic papules of the neck, papular acne scars, and late onset focal dermal elastosis. Rare genodermatoses, i.e. Buschke-Ollendorff syndrome, pseudoxanthoma elasticum, juvenile hyaline fibromatosis and familiar cutaneous collagenoma should be carefully evaluated to provide appropriate genetic counseling and to avoid unnecessary treatment procedures.
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PMID:Buschke-Ollendorff syndrome--differential diagnosis of disseminated connective tissue lesions. 1170 96

Buschke-Ollendorff syndrome is an autosomal dominant disease characterized by disseminated connective tissue nevi of elastic type and osteopoikilosis. We report a 6-year-old Japanese boy with connective tissue nevi that showed slightly grouped yellowish or skin-colored papules and nodules, distributed from birth over his right thigh, right buttock, and back. Radiologic skeletal survey revealed osteopoikilosis. A skin biopsy specimen obtained from a papule showed that collagen bundles in the dermis were thickened and homogenized. The elastic fibers were not increased but were coarse and clumped. The boy's father, at age 34, has had osteopoikilosis and similar papules and nodules on his left buttock and back for the preceding 18 years. We studied the paternal grandfather, aged 65. He had osteopoikilosis and similar skin lesions on his lumbar region. None of the three had a history of hearing loss or malignant tumor. To our knowledge, this is the first report of three generations of Buschke-Ollendorf syndrome in a Japanese family.
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PMID:Buschke-Ollendorff syndrome: three generations in a Japanese family. 1580 2

Buschke-Ollendorff syndrome is an autosomal dominant disorder whose clinical course includes elastic nevi and osteopoikilosis. Histologically, most cases present with a normal amount of collagen in the skin lesions and an increase in elastic fibers, although abortive forms with skin involvement have been described, with a decrease in elastic fibers and an absence of bone alterations. We describe the case of a 41-year-old woman with Buschke-Ollendorff syndrome criteria, and that of her 2-year-old daughter who might present an abortive form of Buschke-Ollendorff.
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PMID:[Family Buschke-Ollendorff syndrome]. 1647 35

The Buschke-Ollendorff syndrome (BOS) (MIM 166700) is a rare autosomal dominant disorder with highly variable expression that consists of multiple cutaneous elastic nevi and osteopoikilosis. It may exhibit clinical variations, and in some patients either skin or bone lesions may be absent. Recently it has been demonstrated that the heterozygous loss of function in LEMD3 can result in osteopoikilosis, BOS, and melorheostosis. We have studied three generations in a family with BOS with a variable phenotype. The genetic analyses revealed a heterozygous c.2203C>T nonsense mutation at the LEMD3 locus. The mutation induces a change in the 735 arginine codon to a stop codon. This study shows the wide phenotypic variation in BOS and increases the repertory of mutations described to date in LEMD3.
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PMID:Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3. 2067 97


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