Buschke–Ollendorff syndrome explained

Buschke–Ollendorff sign
Synonyms:	Dermatofibrosis lenticularis disseminata
Symptoms:	Papules in skin
Causes:	Mutations in the LEMD3 gene.
Diagnosis:	X-ray, ultrasound
Treatment:	Surgery for hearing loss(or complications)

Buschke–Ollendorff syndrome (BOS) is a rare genetic skin disorder associated with LEMD3 that typically presents with widespread painless papules.^[1]

It is inherited in an autosomal dominant manner.^{[2] [3]} 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. It is named for Abraham Buschke and Helene Ollendorff Curth, who described the condition in one female in 1928.^{[1] [4]}

Signs and symptoms

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

• Osteopoikilosis

• Bone pain

• Connective tissue nevi

• Metaphysis abnormality

Pathogenesis

Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene.

Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:^{[6] [7] [8]}

• 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

The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as:^[5]

• X-ray
• Ultrasound
• Histological test

Differential diagnosis

The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:^[9]

• Melorheostosis
• Sclerotic bone metastases.

Treatment

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

Treatment for hearing loss may also require surgical intervention.

See also

• List of cutaneous conditions

Further reading

• Pope. V.. Dupuis. L.. Kannu. P.. Mendoza-Londono. R.. Sajic. D.. So. J.. Yoon. G.. Lara-Corrales. I.. Buschke-Ollendorff syndrome: a novel case series and systematic review. The British Journal of Dermatology. 174. 4. 723–729. 10.1111/bjd.14366. 26708699. 1365-2133. 2016. 24066368.
• Book: Helander. Martti Kormano, Ilmari Lindgren; with the collaboration of Inkeri. Lindgren. Ilmari. Radiological findings in skin diseases and related conditions. 1999. Thieme. Stuttgart. 9783131161215. 3 February 2018. en.

Notes and References

1. Book: Lacour . Marc . Hoeger . Peter H. . Kinsler . Veronica . Yan . Albert C. . Bodemer . Christine . Larralde . Margarita . Luk . David . Mendiratta . Vibhu . Purvis . Diana . Harper's Textbook of Pediatric Dermatology . 4 December 2019 . John Wiley & Sons . 978-1-119-14280-5 . 1139 . https://books.google.com/books?id=-tbBDwAAQBAJ&pg=PA1139 . en . 95. Buschke–Ollendorff syndrome, Marfan's syndrome and osteogenesis imperfecta.
2. Book: James . William D. . Elston . Dirk . Treat . James R. . Rosenbach . Misha A. . Neuhaus . Isaac . Andrews' Diseases of the Skin: Clinical Dermatology . 2020 . Elsevier . Edinburgh. 978-0-323-54753-6 . 614–615 . 13th . https://books.google.com/books?id=UEaEDwAAQBAJ&pg=PA614 . en . 28. Dermal and subcutaneous tumors.
3. Guzman . Anthony K. . James . William D. . Helen Ollendorff-Curth: A dermatologist's lasting legacy . International Journal of Women's Dermatology . September 2016 . 2 . 3 . 108–112 . 10.1016/j.ijwd.2016.06.002 . 28492020 . 2352-6475. 5418872 .
4. A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262.
5. Web site: Buschke Ollendorff syndrome Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. 29 December 2017. en. 31 July 2018. https://web.archive.org/web/20180731183354/https://rarediseases.info.nih.gov/diseases/1044/index. dead.
6. Web site: Buschke-Ollendorff syndrome. Reference. Genetics Home. Genetics Home Reference. en. 2018-05-13.
7. Worman. Howard J.. Fong. Loren G.. Muchir. Antoine. Young. Stephen G.. Laminopathies and the long strange trip from basic cell biology to therapy. The Journal of Clinical Investigation. July 2009. 119. 7. 1825–1836. 10.1172/JCI37679. 19587457. 1558-8238. 2701866.
8. Web site: LEMD3 gene. Reference. Genetics Home. Genetics Home Reference. en. 2018-05-13.
9. Web site: RESERVED. INSERM US14 -- ALL RIGHTS. Orphanet: Buschke Ollendorff syndrome. www.orpha.net. 29 December 2017. en.