MCID: BSC001
MIFTS: 48

Buschke-Ollendorff Syndrome

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Buschke-Ollendorff Syndrome

MalaCards integrated aliases for Buschke-Ollendorff Syndrome:

Name: Buschke-Ollendorff Syndrome 53 24 55 71 13 51
Dermatofibrosis Lenticularis Disseminata with Osteopoikilosis 53 49 24 71
Osteopathia Condensans Disseminata 53 49 24 71
Dermatoosteopoikilosis 53 49 24 71
Dermatofibrosis Lenticularis Disseminata 24 28 69
Bos 53 49 71
Dermatofibrosis, Disseminated, with Osteopoikilosis 53 24
Disseminated Dermatofibrosis with Osteopoikilosis 55 71
Dermatofibrosis, Disseminated with Osteopoikilosis 49
Osteopoikilosis with or Without Melorheostosis 53
Dermatofibrosis Disseminata Lenticularis 24
Buschke Ollendorff Syndrome 49
Osteopoikilosis, Isolated 69
Isolated Osteopoikilosis 55

Characteristics:

Orphanet epidemiological data:

55
buschke-ollendorff syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;
isolated osteopoikilosis
Inheritance: Autosomal dominant;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
variable expression
skin changes have onset in childhood
bone changes tend to develop after first decade


HPO:

31
buschke-ollendorff syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Buschke-Ollendorff Syndrome

NIH Rare Diseases : 49 Buschke Ollendorff syndrome (BOS) is a genetic condition of the connective tissue. Common signs and symptoms include non-cancerous skin lumps and spots of increased bone density (which can be seen on X-ray). Some people with BOS have both skin and bone symptoms, while others have one or the other.  Individual cases of BOS have occurred in association with joint pain, hearing disorders (e.g., otosclerosis), congenitalspinal stenosis, craniosynostosis, and nail patella syndrome. Symptoms of BOS may begin at any age, but most often present before age 20. BOS is caused by mutations in the LEMD3 gene. The mutation results in a loss of protein (also named LEMD3) that results in the excessive formation of bone tissue. It is not clear how the LEMD3 mutations cause the skin lumps or other features of BOS.  BOS is inherited in an autosomal dominant fashion. Affected members of the same family can have very different symptoms. Last updated: 3/16/2011

MalaCards based summary : Buschke-Ollendorff Syndrome, also known as dermatofibrosis lenticularis disseminata with osteopoikilosis, is related to osteopoikilosis and melorheostosis, and has symptoms including arthralgia, myalgia and joint stiffness. An important gene associated with Buschke-Ollendorff Syndrome is LEMD3 (LEM Domain Containing 3), and among its related pathways/superpathways are DNA Damage/Telomere Stress Induced Senescence and Wnt / Hedgehog / Notch. Affiliated tissues include skin, bone and cortex.

OMIM : 53 Buschke-Ollendorff syndrome is an autosomal dominant connective tissue disorder manifest by multiple subcutaneous nevi or nodules. They may be either elastin-rich (elastoma) or collagen-rich (dermatofibrosis lenticularis disseminata) on histologic examination. The lesions are usually nontender and firm. Affected individuals also have osteopoikilosis (OPK), literally meaning 'spotted bones,' which are osteosclerotic foci that occur in the epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula. Some individuals have both skin and bone manifestations, whereas others may lack skin or bone manifestations. Some individuals may also have melorheostosis (155950), which is characterized by 'flowing' hyperostosis of the cortex of tubular bones. Most reported cases of BOS and OPK are benign, and the bone lesions are found incidentally, although some patients may have joint pain (reviews by Hellemans et al., 2004 and Zhang et al., 2009). (166700)

UniProtKB/Swiss-Prot : 71 Buschke-Ollendorff syndrome: A disease characterized by osteopoikilosis and disseminated connective-tissue nevi. Osteopoikilosis is a skeletal dysplasia characterized by a symmetric but unequal distribution of multiple hyperostotic areas in different parts of the skeleton. Elastic-type nevi (juvenile elastoma) and collagen-type nevi (dermatofibrosis lenticularis disseminata) have been described in BOS. Skin or bony lesions can be absent in some family members, whereas other relatives may have both.

Genetics Home Reference : 24 Buschke-Ollendorff syndrome is a hereditary disorder of connective tissues, which are tissues that provide strength and flexibility to structures throughout the body. Specifically, the condition is characterized by skin growths called connective tissue nevi and a bone abnormality known as osteopoikilosis.

Related Diseases for Buschke-Ollendorff Syndrome

Graphical network of the top 20 diseases related to Buschke-Ollendorff Syndrome:



Diseases related to Buschke-Ollendorff Syndrome

Symptoms & Phenotypes for Buschke-Ollendorff Syndrome

Symptoms via clinical synopsis from OMIM:

53
Skeletal:
osteosclerosis
stiff joints
osteopoikilosis ('spotted bones') typically located in epiphyses and metaphyses of long bones, wrist, foot, ankle, pelvis, and scapula
melorheostosis, typically affect diaphyses (less common)

Skin Nails Hair Skin:
subcutaneous nontender firm nodules
subcutaneous connective tissue nevi
elastin-rich connective tissue nevi (elastoma)
collagen-rich connective tissue nevi (dermatofibrosis lenticularis disseminata)


Clinical features from OMIM:

166700

Human phenotypes related to Buschke-Ollendorff Syndrome:

55 31 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002829
2 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
3 joint stiffness 55 31 frequent (33%) Frequent (79-30%) HP:0001387
4 bone pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002653
5 abnormality of epiphysis morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0005930
6 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
7 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
8 arthritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001369
9 skeletal dysplasia 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
10 abnormality of the dentition 55 31 occasional (7.5%) Occasional (29-5%) HP:0000164
11 microcephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000252
12 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
13 short stature 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
14 flexion contracture 55 31 frequent (33%) Frequent (79-30%) HP:0001371
15 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
16 subcutaneous nodule 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
17 palmoplantar keratoderma 55 31 occasional (7.5%) Occasional (29-5%) HP:0000982
18 ectopic kidney 55 31 hallmark (90%) Very frequent (99-80%) HP:0000086
19 generalized osteosclerosis 55 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005789
20 abnormality of the metaphysis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000944
21 strabismus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000486
22 lymphedema 55 31 occasional (7.5%) Occasional (29-5%) HP:0001004
23 atypical scarring of skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000987
24 recurrent fractures 55 31 occasional (7.5%) Occasional (29-5%) HP:0002757
25 flat occiput 55 31 hallmark (90%) Very frequent (99-80%) HP:0005469
26 generalized hypopigmentation 55 31 hallmark (90%) Very frequent (99-80%) HP:0007513
27 hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100774
28 hoarse voice 55 31 occasional (7.5%) Occasional (29-5%) HP:0001609
29 craniosynostosis 55 31 very rare (1%) Very rare (<4-1%) HP:0001363
30 papule 55 31 hallmark (90%) Very frequent (99-80%) HP:0200034
31 cutaneous finger syndactyly 55 31 very rare (1%) Very rare (<4-1%) HP:0010554
32 abnormal aortic morphology 55 31 occasional (7.5%) Occasional (29-5%) HP:0001679
33 hemangioma 55 31 occasional (7.5%) Occasional (29-5%) HP:0001028
34 generalized limb muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0009055
35 scleroderma 55 31 frequent (33%) Frequent (79-30%) HP:0100324
36 osteopoikilosis 55 31 obligate (100%) Obligate (100%) HP:0010739
37 connective tissue nevi 55 31 obligate (100%) Obligate (100%) HP:0100898
38 diffuse skin atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0007488
39 nevus 31 HP:0003764
40 abnormal bone structure 55 Very frequent (99-80%)
41 abnormal axial skeleton morphology 55 Occasional (29-5%)

UMLS symptoms related to Buschke-Ollendorff Syndrome:


joint stiffness

Drugs & Therapeutics for Buschke-Ollendorff Syndrome

Search Clinical Trials , NIH Clinical Center for Buschke-Ollendorff Syndrome

Genetic Tests for Buschke-Ollendorff Syndrome

Genetic tests related to Buschke-Ollendorff Syndrome:

# Genetic test Affiliating Genes
1 Dermatofibrosis Lenticularis Disseminata 28 LEMD3

Anatomical Context for Buschke-Ollendorff Syndrome

MalaCards organs/tissues related to Buschke-Ollendorff Syndrome:

38
Skin, Bone, Cortex, Kidney

Publications for Buschke-Ollendorff Syndrome

Articles related to Buschke-Ollendorff Syndrome:

(show top 50) (show all 52)
# Title Authors Year
1
Juvenile elastoma without germline mutations in LEMD3 gene: A case of Buschke-Ollendorff syndrome? ( 29023873 )
2017
2
RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome. ( 26711937 )
2016
3
Buschke-Ollendorff syndrome: a novel case series and systematic review. ( 26708699 )
2016
4
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. ( 27267960 )
2016
5
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome. ( 27007781 )
2016
6
Buschke-Ollendorff syndrome. ( 27115577 )
2016
7
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
8
Buschke-Ollendorff syndrome presenting as a painful nodule. ( 27051689 )
2015
9
A 5-year-old with connective tissue nevi: Buschke-Ollendorff syndrome. ( 24726545 )
2014
10
Buschke-Ollendorff syndrome: sparing unnecessary investigations. ( 25184645 )
2014
11
Buschke-Ollendorff syndrome accidentally diagnosed after a left ankle sprain. ( 24583550 )
2014
12
Ossifying fibroma in Buschke-Ollendorff syndrome. ( 24917176 )
2014
13
An 8-year-old boy with multiple yellow papules and bony lesions. Buschke-Ollendorff syndrome. ( 23461687 )
2013
14
Buschke-Ollendorff syndrome and bilateral cutaneous syndactyly. ( 22150319 )
2012
15
Buschke-Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation. ( 21985280 )
2012
16
An unusual presentation of Buschke-Ollendorff syndrome. ( 21679804 )
2011
17
Papular elastorrhexis and Buschke-Ollendorff syndrome are different entities. ( 21679808 )
2011
18
Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3. ( 20678097 )
2011
19
Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family. ( 20083694 )
2010
20
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression. ( 20732851 )
2010
21
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. ( 19438932 )
2009
22
Buschke-Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene. ( 18489034 )
2008
23
Buschke-Ollendorff syndrome. ( 18313966 )
2008
24
Buschke-Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis. ( 18577041 )
2008
25
Buschke-Ollendorff syndrome. ( 18986450 )
2008
26
A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome. ( 17505164 )
2007
27
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. ( 17087626 )
2007
28
Juvenile elastoma: a forme fruste of the Buschke-Ollendorff syndrome? ( 16197425 )
2005
29
Buschke-Ollendorff syndrome: three generations in a Japanese family. ( 15804302 )
2005
30
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. ( 15489854 )
2004
31
Buschke-Ollendorff syndrome. ( 12664025 )
2003
32
Buschke-Ollendorff syndrome: report of a case and interpretation of the clinical phenotype as a type 2 segmental manifestation of an autosomal dominant skin disease. ( 14639409 )
2003
33
Papular elastorrhexis: a distinct variant of connective tissue nevi or an incomplete form of Buschke-Ollendorff syndrome? ( 12372083 )
2002
34
Buschke-Ollendorff syndrome--differential diagnosis of disseminated connective tissue lesions. ( 11701413 )
2001
35
The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi. ( 11298556 )
2001
36
Buschke-Ollendorff syndrome: early, unilateral and pronounced involvement may be explained as a type 2 segmental manifestation. ( 11701396 )
2001
37
Buschke-Ollendorff syndrome in a grande multipara: a case report and short review of the literature. ( 9641521 )
1998
38
Buschke-Ollendorff syndrome, otosclerosis, and congenital spinal stenosis. ( 8170846 )
1994
39
Papular elastorrhexis: a variant of dermatofibrosis lenticularis disseminata (Buschke-Ollendorff syndrome)? ( 7873822 )
1994
40
Case report: osteopoikilosis and the Buschke-Ollendorff syndrome. ( 8391368 )
1993
41
What syndrome is this? Buschke-Ollendorff syndrome. ( 8493179 )
1993
42
Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. ( 1629625 )
1992
43
Buschke-Ollendorff syndrome of the scalp: histologic and ultrastructural findings. ( 2050847 )
1991
44
Clinical considerations in Buschke-Ollendorff syndrome. ( 2302824 )
1990
45
Connective tissue nevus and osteopoikilosis in the hand: the Buschke-Ollendorff syndrome. ( 2738341 )
1989
46
Buschke-Ollendorff syndrome--disseminated dermatofibrosis with osteopoikilosis. ( 3519011 )
1986
47
Buschke-Ollendorff syndrome: report of a case. ( 3733487 )
1986
48
Buschke-ollendorff syndrome. ( 6825465 )
1983
49
An elastic tissue defect in dermatofibrosis lenticularis disseminata. Buschke-Ollendorff syndrome. ( 7066092 )
1982
50
Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorff syndrome. ( 7205030 )
1981

Variations for Buschke-Ollendorff Syndrome

ClinVar genetic disease variations for Buschke-Ollendorff Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 LEMD3 LEMD3, 3-BP DEL/1-BP INS indel Pathogenic
2 LEMD3 LEMD3, 1-BP DUP, 1185T duplication Pathogenic
3 LEMD3 LEMD3, 1-BP DUP, 2154A duplication Pathogenic
4 LEMD3 NM_014319.4(LEMD3): c.2564G> A (p.Trp855Ter) single nucleotide variant Pathogenic rs267607216 GRCh37 Chromosome 12, 65639711: 65639711

Expression for Buschke-Ollendorff Syndrome

Search GEO for disease gene expression data for Buschke-Ollendorff Syndrome.

Pathways for Buschke-Ollendorff Syndrome

GO Terms for Buschke-Ollendorff Syndrome

Cellular components related to Buschke-Ollendorff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.16 SMAD1 SMAD2
2 nuclear inner membrane GO:0005637 8.96 LEMD3 SMAD1
3 SMAD protein complex GO:0071141 8.62 SMAD1 SMAD2

Biological processes related to Buschke-Ollendorff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transforming growth factor beta receptor signaling pathway GO:0007179 9.4 SMAD1 SMAD2
2 negative regulation of transforming growth factor beta receptor signaling pathway GO:0030512 9.37 LEMD3 SMAD2
3 SMAD protein signal transduction GO:0060395 9.32 SMAD1 SMAD2
4 ureteric bud development GO:0001657 9.26 SMAD1 SMAD2
5 embryonic pattern specification GO:0009880 9.16 SMAD1 SMAD2
6 primary miRNA processing GO:0031053 8.96 SMAD1 SMAD2
7 SMAD protein complex assembly GO:0007183 8.62 SMAD1 SMAD2

Molecular functions related to Buschke-Ollendorff Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 co-SMAD binding GO:0070410 9.26 SMAD1 SMAD2
2 I-SMAD binding GO:0070411 9.16 SMAD1 SMAD2
3 primary miRNA binding GO:0070878 8.96 SMAD1 SMAD2
4 transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity GO:0030618 8.62 SMAD1 SMAD2

Sources for Buschke-Ollendorff Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
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42 MESH via Orphanet
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60 QIAGEN
65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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