Buschke-ollendorf syndrome Q78.8

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

Loss-of-function mutation in the LEMD3 gene, which is localized on gene locus 12q14.

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.

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