Buschke-ollendorf syndrome Q78.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

BOS; Buschke-Ollendorf syndrome; Dermatofibrosis lenticularis disseminata with osteopoicilie; Dermatoosteopoicilosis; Disseminated dermatofibrosis with osteopoicilosis; OMIM 166700

History
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Stieda, 1905; Albers-Schönberg, 1916; Buschke and Ollendorff-Curth, 1928

Definition
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Autosomal dominant inherited combination of multiple connective tissue nevi with osteopoicilie.

Etiopathogenesis
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Loss-of-function mutation in the LEMD3 gene mapped on gene locus 12q14.

Manifestation
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Mostly adult, first skin changes possible in childhood.

Localization
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Extremities; distal trunk parts; hyperdense bone foci near the epiphysis.

Clinical features
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Sclerotic areas in the bone without pathological significance, accompanied by anomalies in the anatomically associated soft tissues such as dermatosclerosis, muscle atrophy, lymphedema, as well as multiple, 0.2-1.0 cm large, firm, symmetrically or asymmetrically distributed, skin-coloured nodules and nodules.

Histology
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Corial compression of connective tissue with accumulation of broad elastic fibres.

Differential diagnosis
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Literature
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  1. Albers-Schonberg HE (1916) A rare, previously unknown structural anomaly of the skeleton. Progress Roentgenstr 23: 174-177
  2. Buschke A, Ollendorf-Curth H (1928) A case of Dermatofibrosis lenticularis disseminata and Osteopathia condensans disseminata. Dermatol Wochenschr 86: 257-260
  3. Danielson L, Midtgaard K, Christensen HE (1969) Osteopoicilosis associated with dermatofibrosis lenticularis disseminata. Arch Dermatol 100: 465
  4. Drouin CA et al (2002) The association of Buschke-Ollendorf syndrome and nail-patella syndrome. J Am Acad Dermatol 46: 621-625
  5. Kawamura A et al (2005) Buschke-Ollendorff syndrome: three generations in a Japanese family. Pediatric dermatol 22: 133-137
  6. Stieda A (1905) On circumscribed bone densification in the area of the substantia spongiosa in x-ray images. Beitr Klin Chir 45: 700-703

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Last updated on: 29.10.2020