From Wikipedia, the free encyclopedia
Medical condition
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]
Signs and symptoms
Osteopoikilosis
The signs and symptoms of this condition are consistent with the following (possible complications include
aortic stenosis and
hearing loss
[2]
[4] ):
Pathogenesis
Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene (12q14), located on
chromosome 12.[
citation needed ]
Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:
[9]
[10]
[11]
Bone Cells
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:
[2]
[3]
Differential diagnosis
The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:
[3]
Treatment
In terms of the treatment of Buschke–Ollendorff syndrome, should the complication of
aortic stenosis occur then surgery may be required.
[4]
Treatment for hearing loss may also require surgical intervention.
[4]
See also
References
^
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 .
^
a
b
c
"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 .
^
a
b
c RESERVED, INSERM US14 -- ALL RIGHTS.
"Orphanet: Buschke Ollendorff syndrome" . www.orpha.net . Retrieved 29 December 2017 . {{
cite web }}
: CS1 maint: numeric names: authors list (
link )
^
a
b
c
d
e 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.
^ Reference, Genetics Home.
"Buschke-Ollendorff syndrome" . Genetics Home Reference . Retrieved 2018-05-13 .
^ 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 .
^ Reference, Genetics Home.
"LEMD3 gene" . Genetics Home Reference . Retrieved 2018-05-13 .
^ 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 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 . Retrieved 3 February 2018 . {{
cite book }}
: CS1 maint: multiple names: authors list (
link )
External links
Classification External resources