An elastic tissue defect in dermatofibrosis lenticularis disseminata. Buschke-Ollendorff syndrome

Abstract

A patient with dermatofibrosis lenticularis disseminata (Buschke-Ollendorff syndrome) was found to have a distinctive abnormality of the cutaneous elastic tissue. This abnormality, studied by histochemical and ultrastructural techniques, was characterized by the presence of hyalinized, thick fibers that entrapped normal bundles of collagen. Histochemically, these fibers stained like elastin but showed certain tinctorial characteristics of pre-elastin. Ultrastructurally, this elastin-like substance was composed of large clumps of electron-dense material with a fine fibrillar coating. The changes were sufficiently distinctive to be diagnosed by light microscopy.

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

“…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.…”

Ossifying fibroma in Buschke–Ollendorff syndrome

“…The connective tissue nevi of Buschke–Ollendorff syndrome typically develop within the first two decades of life, most often appearing before puberty and increasing in number with age . Lesions typically involve the wrists, buttocks, proximal extremities and trunk and tend to manifest as symmetrically distributed papules, termed dermatofibrosis lenticularis disseminata, or asymmetric or pseudo‐segmental collections of papules that coalesce to form larger plaques resembling pseudoxanthoma elasticum . Because some patients present with asymmetrically distributed lesions, it was previously hypothesized that these presentations resulted from somatic mutation leading to loss of heterozygosity in a type 2 mosaicism pattern.…”

“…The skin manifestations of Buschke–Ollendorff syndrome fall into two primary categories: (1) classic dermatofibrosis lenticularis disseminata with symmetrically distributed yellow to flesh‐colored papules and (2) asymmetric, segmental areas of involvement with papules coalescing into plaques, producing a ‘cobblestone’ appearance. Both morphologies may co‐exist in a single patient . There are also reports of patients with linearly oriented depressed, bound‐down plaques …”