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Buschke-ollendorf syndromeQ78.8

Author:Prof. Dr. med. Peter Altmeyer

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Last updated on: 27.01.2023

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Synonym(s)

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

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HistoryThis section has been translated automatically.

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

DefinitionThis section has been translated automatically.

Autosomal-dominantly inherited mesenchymal dysplasia syndrome characterized by a combination of multiple connective tissue nevi with osteopoikilia.

EtiopathogenesisThis section has been translated automatically.

Loss-of-function mutation in the LEMD3 gene located at gene locus 12q14.

ManifestationThis section has been translated automatically.

Mostly adult, first skin changes possible in childhood.

LocalizationThis section has been translated automatically.

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

Clinical featuresThis section has been translated automatically.

Sclerotic areas in the bone without pathological significance, accompanied by abnormalities in the anatomically associated soft tissues such as dermatosclerosis, muscle atrophy and lymphedema . Multiple, asymptomatic, 0.2-1.0 cm, firm, symmetrically or also asymmetrically distributed, skin-colored nodules, nodules, and plaques are dermatologically conspicuous. Skin and bone lesions may occur in isolation from each other.

Ophthalmologically, inconstant blue sclerae are detected.

HistologyThis section has been translated automatically.

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

Differential diagnosisThis section has been translated automatically.

Xanthoma tuberosum, Pseudoxanthoma elasticum.

LiteratureThis section has been translated automatically.

  1. Albers-Schonberg HE (1916) A rare, previously unknown structural anomaly of the skeleton. Fortschr 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) Osteopoikilosis 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. Pediatr Dermatol 22: 133-137.

  6. Korman B et al (2016) Mutation in LEMD3 (Man1) Associated with Osteopoikilosis and Late-Onset Generalized Morphea: A New Buschke-Ollendorf Syndrome Variant. Case Rep Dermatol Med. 2016:2483041.

  7. Stieda A (1905) On circumscribed bone compaction in the region of the substantia spongiosa in Roentgen images. Beitr Klin Chir 45: 700-703

Authors

Last updated on: 27.01.2023

Author: Prof. Dr. med. Peter Altmeyer