Buschke–Ollendorff syndrome
| Buschke–Ollendorff sign | |
|---|---|
| Other names | Dermatofibrosis lenticularis disseminata[1] |
| Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance. | |
| Symptoms | Papules in skin[1] |
| Causes | Mutations in the LEMD3 gene.[2] |
| Diagnostic method | X-ray, ultrasound[3] |
| Treatment | Surgery for hearing loss(or complications)[4] |
Buschke–Ollendorff syndrome (BOS) is a rare genetic skin disorder associated with LEMD3 that typically presents with widespread painless papules.[1][5]
It is inherited in an autosomal dominant manner.[6][7] Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others.[1]
Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females.[4] It is named for Abraham Buschke and Helene Ollendorff Curth, who described the condition in one female in 1928.[1][8]
- ^ a b c d e Lacour, Marc (4 December 2019). "95. Buschke–Ollendorff syndrome, Marfan's syndrome and osteogenesis imperfecta". In Hoeger, Peter H.; Kinsler, Veronica; Yan, Albert C.; Bodemer, Christine; Larralde, Margarita; Luk, David; Mendiratta, Vibhu; Purvis, Diana (eds.). Harper's Textbook of Pediatric Dermatology. John Wiley & Sons. p. 1139. ISBN 978-1-119-14280-5.
- ^ Cite error: The named reference
garwas invoked but never defined (see the help page). - ^ Cite error: The named reference
orphwas invoked but never defined (see the help page). - ^ a b Lukasz Matusiak (2 July 2008), Dermatofibrosis Lenticularis (Buschke–Ollendorf Syndrome), eMedicine, retrieved 2009-09-05
- ^ Online Mendelian Inheritance in Man (OMIM): 166700
- ^ James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020). "28. Dermal and subcutaneous tumors". Andrews' Diseases of the Skin: Clinical Dermatology (13th ed.). Edinburgh: Elsevier. pp. 614–615. ISBN 978-0-323-54753-6.
- ^ Guzman, Anthony K.; James, William D. (September 2016). "Helen Ollendorff-Curth: A dermatologist's lasting legacy". International Journal of Women's Dermatology. 2 (3): 108–112. doi:10.1016/j.ijwd.2016.06.002. ISSN 2352-6475. PMC 5418872. PMID 28492020.
- ^ A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262.