Buschke–Ollendorff syndrome

Buschke–Ollendorff sign
Other names: Dermatofibrosis lenticularis disseminata[1]
Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance.
SpecialtyDermatology
SymptomsWidespread small bumps in skin[2]
ComplicationsOtosclerosis[1]
Usual onsetChildren, adolescence[1]
CausesMutations in the LEMD3 gene.[3]
Diagnostic methodX-ray, ultrasound[4]
Differential diagnosisTuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, lipoma[1]
TreatmentSurgery for hearing loss(or complications)[5]
PrognosisTypically benign[1]
FrequencyRare[1]

Buschke–Ollendorff syndrome (BOS) is an inherited skin condition that presents with widespread small bumps, some of which merge to form thicker areas.[2] The trunk and limbs are most frequently affected.[2]

It is a genetic disorder associated with LEMD3.[6][7] It is inherited in an autosomal dominant manner.[2] In a very few, X-rays may show several areas of compact bone.[1] Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others.[1]

The condition is rare.[7] Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females.[5] It is named for Abraham Buschke and Helene Ollendorff Curth, who described it in 1928.[6][8]

Signs and symptoms

The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss[3][5]):

Pathogenesis

Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene (12q14), located on chromosome 12.

Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:[9][10][11]

Bone Cells
  • LEMD3 (protein) referred also as MAN1, is an important protein in inner nuclear membrane.
  • LEMD3 gene gives instructions for producing protein that controls signaling for transforming growth factor-beta.
  • LEMD3 gene helps in the bone morphogenic protein pathway
  • Both of the above pathways help grow new bone cells
  • BMP and TGF-β pathways controls SMADs proteins, which then bind to DNA
  • LEMD3 once mutated, causes a reduction of the protein, which in turn causes excess of the above two pathways.

Diagnosis

Microscope with stained slide (histological specimen)
Histopathology of BOS.[12]

The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as:[3][4]

  • X-ray
  • Ultrasound
  • Histological test
  • Osteopoikilosis
    Osteopoikilosis
  • Osteopoikilosis
    Osteopoikilosis
  • Melorheostosis
    Melorheostosis

Differential diagnosis

The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:[4]

Treatment

In terms of the treatment of Buschke–Ollendorff syndrome, should the complication of aortic stenosis occur then surgery may be required. [5]

Treatment for hearing loss may also require surgical intervention.[5]

  • Note thickened sclerotic cortical bone
    Note thickened sclerotic cortical bone

See also

References

  1. 1 2 3 4 5 6 7 8 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.
  2. 1 2 3 4 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. Archived from the original on 2023-07-30. Retrieved 2023-07-29.
  3. 1 2 3 "Buschke Ollendorff syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Archived from the original on 31 July 2018. Retrieved 29 December 2017.
  4. 1 2 3 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Buschke Ollendorff syndrome". www.orpha.net. Archived from the original on 31 July 2018. Retrieved 29 December 2017.
  5. 1 2 3 4 5 Lukasz Matusiak (2 July 2008), Dermatofibrosis Lenticularis (Buschke–Ollendorf Syndrome), eMedicine, archived from the original on 2019-07-27, retrieved 2009-09-05
  6. 1 2 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. PMID 28492020. Archived from the original on 2023-03-02. Retrieved 2023-07-29.
  7. 1 2 Online Mendelian Inheritance in Man (OMIM): 166700
  8. ↑ A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262.
  9. ↑ Reference, Genetics Home. "Buschke-Ollendorff syndrome". Genetics Home Reference. Archived from the original on 2019-04-11. Retrieved 2018-05-13.
  10. ↑ Worman, Howard J.; Fong, Loren G.; Muchir, Antoine; Young, Stephen G. (July 2009). "Laminopathies and the long strange trip from basic cell biology to therapy". The Journal of Clinical Investigation. 119 (7): 1825–1836. doi:10.1172/JCI37679. ISSN 1558-8238. PMC 2701866. PMID 19587457. Archived from the original on 13 December 2019. Retrieved 13 May 2018.
  11. ↑ Reference, Genetics Home. "LEMD3 gene". Genetics Home Reference. Archived from the original on 2018-07-02. Retrieved 2018-05-13.
  12. ↑ Hosen, Mohammad J.; Lamoen, Anouck; De Paepe, Anne; Vanakker, Olivier M. (2012). "Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues". Scientifica. 2012: 1–15. doi:10.6064/2012/598262. ISSN 2090-908X. PMC 3820553. PMID 24278718.
    -Creative Commons Attribution 3.0 Unported Archived 2011-02-23 at the Wayback Machine license

Further reading

  • Pope, V.; Dupuis, L.; Kannu, P.; Mendoza-Londono, R.; Sajic, D.; So, J.; Yoon, G.; Lara-Corrales, I. (2016). "Buschke-Ollendorff syndrome: a novel case series and systematic review". The British Journal of Dermatology. 174 (4): 723–729. doi:10.1111/bjd.14366. ISSN 1365-2133. PMID 26708699. S2CID 24066368.
  • Helander, Martti Kormano, Ilmari Lindgren; with the collaboration of Inkeri; Lindgren, Ilmari (1999). Radiological findings in skin diseases and related conditions. Stuttgart: Thieme. ISBN 9783131161215. Archived from the original on 29 August 2021. Retrieved 3 February 2018.
Classification
External resources
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