Juvenile elastoma and osteopoikilosis (the Buschke-Ollendorff syndrome)

Morrison, James Gilmour; Jones, E. Wilson; Macdonald, D.M.

doi:10.1111/j.1365-2133.1977.tb14251.x

Cited by 74 publications

(61 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Since the patient did not show any bone change on X-ray examination, we considered this case as a localized form of naevus elasticus without systemic involvement. However, since an abortive manifestation of BOS which showed typical skin lesions but had no skeletal changes has been described [2, 3], it is difficult to decide whether this case is a localized form of naevus elasticus unrelated to BOS or an abortive form of BOS.…”

Section: Discussionmentioning

confidence: 99%

“…These different histological findings of the lesions suggest different forms of BOS. Even an abortive form of BOS which shows characteristic skin lesions but has no skeletal involvement has been reported [2, 3]. …”

Section: Introductionmentioning

confidence: 99%

“…In X-ray examination a focal increased bone density of the epiphyses and metaphyses was found and named osteopoikilosis [1, 2]. The histological examination of the skin lesions has revealed different findings; collagen bundles were thickened [3]or normal [4]; elastic fibers were increased [2, 5, 6], diminished and fragmented [7, 8]or normal [3]. The skin lesions showing accumulated elastic fibers on histological examination were named naevus elasticus.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Elastic Nevus With Normal Expression of Elastin and Elastin-Related Proteins mRNAs

Ohnishi

Akiyama²,

Tajima³

et al. 1999

Dermatology

View full text Add to dashboard Cite

A 3-year-old Japanese girl presented with disseminated white papules on the trunk. A biopsied specimen of the lesional skin revealed a focal accumulation of elastic fibers in the mid to deep dermis. No skeletal involvement was detected. This case was considered to be elastic nevus without systemic involvement. Since an elevated elastin expression in the fibroblasts of typical Buschke-Ollendorff syndrome (BOS) has been reported, elastin and elastin-related protein mRNA levels in the cultured patient fibroblasts were determined. There were no significant differences of steady-state levels of elastin, fibrillin 1 and microfibril-associated glycoprotein 1 mRNAs between patient and matched control fibroblasts. Elastic nevus without skeletal involvement may be etiologically different from typical BOS.

show abstract

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Elastic Nevus With Normal Expression of Elastin and Elastin-Related Proteins mRNAs

Ohnishi

Akiyama²,

Tajima³

et al. 1999

Dermatology

View full text Add to dashboard Cite

show abstract

“…Two clinical patterns have been described. The first is characterized by symmetrically disseminated white or yellowish papules on the trunk and extremities without fol licular distribution [4], The second type is more frequent, comprising larger, yellowish nodules, often grouped and sometimes coalescing to form plaques [4,8,9], Histologi cally most cases showed nonnal collagen fibrils [5,6] and increased elastic fibrils [8], In X-ray examination an in creased bone density with a predilection for the spongiosa of the epiphyses and metaphyses was found and was named osteopoikilosis [4]. However, abortive manifestations of Buschke-Ollendorff syndrome have been described, which showed characteristic skin involvement but had no skeletal changes and presented with different histological findings (table 1).…”

Section: Discussionmentioning

confidence: 99%

Papular Elastorrhexis: A Variant of Dermatofibrosis lenticularis disseminata (Buschke-Ollendorff Syndrome)?

Schirren¹,

Schirren²,

Stolz

et al. 1994

Dermatology

View full text Add to dashboard Cite

Background: Buschke-Ollendorff syndrome is an autosomal dominant disorder clinically characterized by the appearance of disseminated white papules and osteopoikilosis. Histologically most cases show normal collagen and increased elastic tissue. Abortive forms of Buschke-Ollendorff syndrome are described, which show characteristic skin involvement, absence of skeletal changes and decreased elastic tissue. Papular elastorrhexis is characterized by nonfollicular, white papules, decreased elastic tissue, no genetic inheritance and no osteopoikilosis. Objective: Is papular elastorrhexis a new entity or an abortive form of Buschke-Ollendorff syndrome? Methods: We examined three members of one family (brother, sister and mother) presenting with nonfollicular, distributed, white papules on the trunk and extremities. Skin biopsies were examined by histological and electron-microscopic methods. Results: The histological and electron-microscopic examinations of skin biopsies showed decreased, fragmented elastic fibers and normal collagen. By X-ray examination, no osteopoikilosis was found. The family presented here supports a genetic background of the disease. Conclusion: The clinical appearance with the absence of osteopoikilosis and the histological findings of our cases suggest the diagnosis of papular elastorrhexis. Papular elastorrhexis however was reported to be nonfamilial. Because of the genetic background found here we believe that papular elastorrhexis is an abortive form of Buschke-Ollendorff syndrome. Summarizing our data and reviewing the literature, we suggest that connective tissue nevi with the most prominent alterations in the elastic tissue should be classified under the term elastic tissue nevi.

show abstract

“…1 Affected individuals typically manifest both skin and bone findings, but some have involvement of only 1 of these tissues. 14,15 Although BOS is generally considered benign, this rare disorder has also been described in patients with diabetes mellitus; otosclerosis; ocular anomalies, including cataracts; peptic ulcer; cryptorchidism; congenital spinal stenosis; short stature with or without precocious puberty; and muscle contractures. 16 However, many of these associations with BOS may be coincidental.…”

Section: Commentmentioning

confidence: 99%