Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome)

Updated: Apr 18, 2016
  • Author: Lukasz Matusiak, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Overview

Background

Buschke-Ollendorff syndrome is a rare hereditary disorder of connective tissue. It is inherited as a pleiotropic autosomal dominant trait with incomplete penetrance. This condition was described for the first in 1902 and was termed "scleroderma adultorum" by Abraham Buschke. Then, Heinrich Ernst Albers-Schönberg described this syndrome in 1915. Finally, Buschke and Helene Ollendorff Curth described it in 1928 in a 41-year-old woman. Buschke-Ollendorff syndrome is considered to be a hamartoma, an association of osteopoikilosis and connective tissue nevi. [1, 2, 3, 4, 5, 6, 7]

See image below depicting Buschke-Ollendorff syndrome.

Plaque of grouped papular eruptions on the thigh. Plaque of grouped papular eruptions on the thigh.
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Pathophysiology

In the presence of 10% calf serum, cultured fibroblasts of patients with Buschke-Ollendorff syndrome produce 2-8 times more tropoelastin than fibroblasts of healthy individuals. Elastin production is higher in involved and uninvolved skin. [8, 9, 10] Elevated elastin mRNA levels suggest that Buschke-Ollendorff syndrome may result from abnormal regulation of extracellular matrix, leading to increased levels of elastin mRNA and increased accumulation of elastin in the dermis. Noteworthy is that heterozygous loss-of-function mutation in the LEMD3 (LEM domain containing 3) gene (locus 12q14.3) for an inner nuclear membrane protein has been identified in patients with osteopoikilosis with or without Buschke-Ollendorff syndrome. [5, 11, 12, 13, 14]

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Epidemiology

Frequency

Buschke-Ollendorff syndrome is rare (1 case per 20,000 population). [5]

Race

No racial predilection is reported for Buschke-Ollendorff syndrome. [5]

Sex

The incidence is equal for males and females. [5]

Age

Skin lesions are visible in neonates just after birth. Other factors of the syndrome are revealed with time. [4]

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Prognosis

When visceral or metabolic changes (diabetes) are present, the prognosis can be serious. The cause of mortality may be malignant transformation of bone densities into osteosarcoma, chondrosarcoma, and giant cell tumor. The otosclerosis with hearing impairment, stenosis of the aortae, and diabetes found in this syndrome make the patient's condition serious. [4, 15, 16] However, in general, Buschke-Ollendorff syndrome follows a benign course. The associated lesions are generally asymptomatic, begin in childhood, and persist throughout life, often found as incidental findings [17] .

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Patient Education

The patient and/or the patient's family should be educated concerning potential complications.

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