Laboratory Studies

Patients suspected of having dermatofibrosis lenticularis (Buschke-Ollendorff syndrome) should undergo genetic testing, given the highly variable phenotypic expression.^[16]

Imaging Studies

Consider the following the information below with regard to imaging studies.^{[1, 2, 4, 5, 27, 31]}

In Buschke-Ollendorff syndrome, the radiographic appearance of osteopoikilosis is diagnostic. Bone densities are often present in the fingers, carpal and metacarpal bones, lumbosacral spine, and tibial and radial bones. They are sclerotic circular or ovoid lesions symmetrically distributed in a periarticular location, and they may be 1-16 mm in diameter. Lesions can increase or decrease in size and number or even disappear in serial radiographs. The bone densities are caused by condensations of the spongiosa.

Other sclerosing dysplasias, including osteopathia striata, melorheostosis, and focal sclerosis, can be seen. When osteopoikilosis is seen in combination with these sclerosing dysplasias, the term mixed sclerosing bone dystrophy is used.

Lesions do not have increased bone radiotracer uptake.

T1-weighted MRI reveals multiple, well-circumscribed, low-signal foci usually in a symmetric distribution. The differential diagnosis includes blastic metastases, tuberous sclerosis, and mastocytosis. However, symmetry and uniform size of the lesions would be most suggestive of osteopoikilosis.

Histologic Findings

Regarding skin lesions, histopathologic examination reveals numerous thickened collagen fibers in the dermis. Orcein stain of the reticular layer of the dermis reveals numerous elastic fibers with various diameters as depicted below. These fibers are frequently fragmented, and, in some places, they create a net of bundles. Weigert stain of the reticular dermis also reveals numerous elastic fibers with different diameters as shown below.^[10]While most lesions have mixed findings, they can be categorized into four subtypes based on their composition: pure collagenoma, pure elastoma, mixed connective-tissue nevi, and cellular connective-tissue nevi.^[15]

Orcein stain of elastic fibers shows the histopathologic features of the skin lesions.

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Weigert stain of the elastic fibers shows the histopathologic features of the skin lesions.

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Hematoxylin and eosin stain shows the histopathologic features of the skin lesions.

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Treatment & Management

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Media Gallery

Plaque of grouped papular eruptions on the thigh.
Hematoxylin and eosin stain shows the histopathologic features of the skin lesions.
Small longitudinal lesions of increased bone density in the proximal epiphysis of the left tibial bone and in the distal epiphysis of the right tibial bone.
Orcein stain of elastic fibers shows the histopathologic features of the skin lesions.
Weigert stain of the elastic fibers shows the histopathologic features of the skin lesions.
Plaque of grouped papules on the abdominal coat.

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Author

Vernon J Forrester, MD Fellow, Cleveland Clinic

Disclosure: Nothing to disclose.

Coauthor(s)

Krista Roncone University of Virginia School of Medicine

Disclosure: Nothing to disclose.

Barbara B Wilson, MD Edward P Cawley Associate Professor, Department of Dermatology, University of Virginia School of Medicine

Barbara B Wilson, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Medical Society of Virginia, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Jacek C Szepietowski, MD, PhD Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Received consulting fee from Orfagen for consulting; Received consulting fee from Maruho for consulting; Received consulting fee from Astellas for consulting; Received consulting fee from Abbott for consulting; Received consulting fee from Leo Pharma for consulting; Received consulting fee from Biogenoma for consulting; Received honoraria from Janssen for speaking and teaching; Received honoraria from Medac for speaking and teaching; Received consulting fee from Dignity Sciences for consulting; .

Grazyna Szybejko-Machaj, MD, PhD Assistant Professor, Department of Dermatology, Wroclaw Medical University

Disclosure: Nothing to disclose.

Lukasz Matusiak, MD, PhD Assistant, Department and Clinic of Dermatology, Venereology and Allergology, Medical University of Wroclaw

Disclosure: Nothing to disclose.

Acknowledgements

Mark A Crowe, MD Assistant Clinical Instructor, Department of Medicine, Division of Dermatology, University of Washington School of Medicine

Mark A Crowe, MD is a member of the following medical societies: American Academy of Dermatology and North American Clinical Dermatologic Society

Disclosure: Nothing to disclose.

Mieczyslawa Miklaszewska, MD, PhD Professor, Department of Dermatology, Medical University in Wroclaw, Poland

Disclosure: Nothing to disclose.