We describe an Asian child with juvenile elastoma who presented to us at 9 years of age with flesh-coloured nodules on his thigh. Histologically, H&E sections were normal, but elastin stains showed collections of increased and thickened elastic fibres consistent with juvenile elastoma. Radiological examination did not demonstrate osteopoikilosis. However, we postulate that he may represent a forme fruste of the Buschke-Ollendorff syndrome or early presentation prior to the subsequent development of osteopoikilosis.
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Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease.
Acta Dermatovenerol Alp Pannonica Adriat
March 2020
Department of Clinical and Molecular Sciences, Dermatological clinic, Polytechnic University of the Marche Region, Ancona, Italy.
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).
View Article and Find Full Text PDFJuvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome?
Pediatr Dermatol
November 2017
Department of Dermatology, Vittorio Emanuele-Policlinic Hospital, Catania, Italy.
We report the case of a 6-year-old Caucasian girl with clinical and histopathologic features of Buschke-Ollendorff syndrome. Histologic examination of skin lesions showed thick, curly, elastic fibers in the derma. Bone lesions compatible with Buschke-Ollendorff syndrome were found in the girl's mother.
View Article and Find Full Text PDFBuschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family.
Arch Dermatol
January 2010
Division of Dermatology, Department of Medicine, Children's Hospital at Montefiore Medical Center, Albert Einstein College of Medicine, 111 E 210th St, Bronx, NY 10467, USA.
Background: Buschke-Ollendorff syndrome (BOS), an autosomal dominant disorder, features small, acquired, asymptomatic, symmetrical foci of osteosclerosis detected radiographically in epimetaphyseal bone (osteopoikilosis) (OPK) together with connective tissue nevi or juvenile elastomas. Heterozygous, loss-of-function, germline mutation in the LEMD3 gene (which encodes an inner nuclear membrane protein called LEMD3, or MAN1) has been repeatedly documented in patients with BOS or OPK.
Observations: We describe a father and son with multiple yellowish papules and nodules coalescing into cobblestone nevoid plaques consistent with nevus elasticus.
Juvenile elastoma: a forme fruste of the Buschke-Ollendorff syndrome?
Australas J Dermatol
November 2005
National Skin Centre, Singapore.
We describe an Asian child with juvenile elastoma who presented to us at 9 years of age with flesh-coloured nodules on his thigh. Histologically, H&E sections were normal, but elastin stains showed collections of increased and thickened elastic fibres consistent with juvenile elastoma. Radiological examination did not demonstrate osteopoikilosis.
View Article and Find Full Text PDFElastic fibers in dermis of juvenile elastoma.
J Dermatol
January 1998
Department of Dermatology, University of Copenhagen, Bispebjerg Hospital, Denmark.
To explore the ultrastructure of elastic fibers in juvenile elastoma, three patients (two without osteopoikilosis and one under examination of bones and joints) were studied by routine electron microscopy. In addition to normal elastic fibers, all the patients also exhibited alterations in elastic fibers. The altered ultrastructures showed lucent, homogenous matrix without peripheral microfibrils.
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