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 54 24 25 56 71 13 52
Dermatofibrosis Lenticularis Disseminata with Osteopoikilosis 50 25 71
Dermatofibrosis Lenticularis Disseminata 25 29 69
Osteopathia Condensans Disseminata 50 25 71
Dermatoosteopoikilosis 50 25 71
Disseminated Dermatofibrosis with Osteopoikilosis 56 71
Bos 50 71
Dermatofibrosis, Disseminated, with Osteopoikilosis 25
Dermatofibrosis, Disseminated with Osteopoikilosis 50
Osteopoikilosis with or Without Melorheostosis 54
Dermatofibrosis Disseminata Lenticularis 25
Buschke Ollendorff Syndrome 50
Osteopoikilosis, Isolated 69
Isolated Osteopoikilosis 56

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant

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


HPO:

32
buschke-ollendorff syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Buschke-Ollendorff Syndrome

NIH Rare Diseases : 50 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 branchiootorenal/branchiootic syndrome, and has symptoms including short stature, visual impairment and palmoplantar keratoderma. 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.

Genetics Home Reference : 25 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.

OMIM : 54
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.

Related Diseases for Buschke-Ollendorff Syndrome

Diseases related to Buschke-Ollendorff Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
id Related Disease Score Top Affiliating Genes
1 osteopoikilosis 11.6
2 branchiootorenal/branchiootic syndrome 11.5
3 branchiootic syndrome 1 11.4
4 cow milk allergy 11.4
5 bohring-opitz syndrome 11.2
6 melorheostosis, isolated 11.2
7 bronchiolitis obliterans 11.1
8 branchiootic syndrome 11.0
9 branchiootic syndrome 3 10.7
10 melorheostosis 10.3
11 elastoma 10.3
12 papular elastorrhexis 10.3
13 otosclerosis 10.0
14 ossifying fibroma 10.0
15 hypertrophic scars 10.0
16 craniosynostosis 10.0
17 skin disease 10.0
18 spinal stenosis 10.0
19 fibroma 10.0
20 intravascular angioleiomyoma 9.7 LEMD3 SMAD2
21 cavitary optic disc anomalies 8.3 ELN LEMD3 SMAD1 SMAD2
22 spermatocele 8.0 ELN LEMD3 SMAD1 SMAD2

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:

54

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:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0004322
2 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
3 palmoplantar keratoderma 56 32 occasional (7.5%) Occasional (29-5%) HP:0000982
4 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
5 microcephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000252
6 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
7 recurrent fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002757
8 hemangioma 56 32 occasional (7.5%) Occasional (29-5%) HP:0001028
9 arthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001369
10 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
11 myalgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003326
12 bone pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002653
13 joint stiffness 56 32 frequent (33%) Frequent (79-30%) HP:0001387
14 craniosynostosis 56 32 very rare (1%) Very rare (<4-1%) HP:0001363
15 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002652
16 arthralgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002829
17 lymphedema 56 32 occasional (7.5%) Occasional (29-5%) HP:0001004
18 hoarse voice 56 32 occasional (7.5%) Occasional (29-5%) HP:0001609
19 ectopic kidney 56 32 hallmark (90%) Very frequent (99-80%) HP:0000086
20 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
21 flat occiput 56 32 hallmark (90%) Very frequent (99-80%) HP:0005469
22 scleroderma 56 32 frequent (33%) Frequent (79-30%) HP:0100324
23 generalized limb muscle atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0009055
24 hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100774
25 osteopoikilosis 56 32 obligate (100%) Obligate (100%) HP:0010739
26 generalized hypopigmentation 56 32 hallmark (90%) Very frequent (99-80%) HP:0007513
27 abnormality of epiphysis morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0005930
28 flexion contracture 56 32 frequent (33%) Frequent (79-30%) HP:0001371
29 subcutaneous nodule 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001482
30 generalized osteosclerosis 56 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0005789
31 atypical scarring of skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000987
32 papule 56 32 hallmark (90%) Very frequent (99-80%) HP:0200034
33 cutaneous finger syndactyly 56 32 very rare (1%) Very rare (<4-1%) HP:0010554
34 abnormality of the aorta 56 32 occasional (7.5%) Occasional (29-5%) HP:0001679
35 connective tissue nevi 56 32 obligate (100%) Obligate (100%) HP:0100898
36 diffuse skin atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0007488
37 abnormality of the teeth 56 Occasional (29-5%)
38 abnormality of the metaphyses 56 Very frequent (99-80%)
39 nevus 32 HP:0003764
40 abnormal bone structure 56 Very frequent (99-80%)
41 abnormal axial skeleton morphology 56 Occasional (29-5%)
42 abnormality of the dentition 32 occasional (7.5%) HP:0000164
43 abnormality of the metaphysis 32 hallmark (90%) HP:0000944

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:

id Genetic test Affiliating Genes
1 Dermatofibrosis Lenticularis Disseminata 29
2 Buschke-Ollendorff Syndrome 24 LEMD3

Anatomical Context for Buschke-Ollendorff Syndrome

MalaCards organs/tissues related to Buschke-Ollendorff Syndrome:

39
Skin, Bone, Cortex, Kidney

Publications for Buschke-Ollendorff Syndrome

Articles related to Buschke-Ollendorff Syndrome:

(show top 50) (show all 51)
id Title Authors Year
1
The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. ( 27267960 )
2016
2
Buschke-Ollendorff syndrome. ( 27115577 )
2016
3
Buschke-Ollendorff syndrome: a novel case series and systematic review. ( 26708699 )
2016
4
Identification of a Novel Point Mutation in the LEMD3 Gene in an Infant With Buschke-Ollendorff Syndrome. ( 27007781 )
2016
5
RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome. ( 26711937 )
2016
6
Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. ( 26135202 )
2015
7
Buschke-Ollendorff syndrome presenting as a painful nodule. ( 27051689 )
2015
8
Buschke-Ollendorff syndrome accidentally diagnosed after a left ankle sprain. ( 24583550 )
2014
9
Buschke-Ollendorff syndrome: sparing unnecessary investigations. ( 25184645 )
2014
10
A 5-year-old with connective tissue nevi: Buschke-Ollendorff syndrome. ( 24726545 )
2014
11
Ossifying fibroma in Buschke-Ollendorff syndrome. ( 24917176 )
2014
12
An 8-year-old boy with multiple yellow papules and bony lesions. Buschke-Ollendorff syndrome. ( 23461687 )
2013
13
Buschke-Ollendorff syndrome and bilateral cutaneous syndactyly. ( 22150319 )
2012
14
Buschke-Ollendorff syndrome associated with hypertrophic scar formation: a possible role for LEMD3 mutation. ( 21985280 )
2012
15
Buschke-Ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3. ( 20678097 )
2011
16
Papular elastorrhexis and Buschke-Ollendorff syndrome are different entities. ( 21679808 )
2011
17
An unusual presentation of Buschke-Ollendorff syndrome. ( 21679804 )
2011
18
Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family. ( 20083694 )
2010
19
Buschke-Ollendorff syndrome in a three-generation family: influence of a novel LEMD3 mutation to tropoelastin expression. ( 20732851 )
2010
20
Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis. ( 19438932 )
2009
21
Buschke-Ollendorff syndrome. ( 18986450 )
2008
22
Buschke-Ollendorff syndrome. ( 18313966 )
2008
23
Buschke-Ollendorff syndrome: a manifestation of a heterozygous nonsense mutation in the LEMD3 gene. ( 18489034 )
2008
24
Buschke-Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis. ( 18577041 )
2008
25
Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis. ( 17087626 )
2007
26
A novel heterozygous splice-site mutation of LEM domain-containing 3 in a Japanese kindred with Buschke-Ollendorff syndrome. ( 17505164 )
2007
27
Juvenile elastoma: a forme fruste of the Buschke-Ollendorff syndrome? ( 16197425 )
2005
28
Buschke-Ollendorff syndrome: three generations in a Japanese family. ( 15804302 )
2005
29
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. ( 15489854 )
2004
30
Buschke-Ollendorff syndrome. ( 12664025 )
2003
31
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
32
Papular elastorrhexis: a distinct variant of connective tissue nevi or an incomplete form of Buschke-Ollendorff syndrome? ( 12372083 )
2002
33
Buschke-Ollendorff syndrome: early, unilateral and pronounced involvement may be explained as a type 2 segmental manifestation. ( 11701396 )
2001
34
The Buschke-Ollendorff syndrome presenting as familial elastic tissue naevi. ( 11298556 )
2001
35
Buschke-Ollendorff syndrome--differential diagnosis of disseminated connective tissue lesions. ( 11701413 )
2001
36
Buschke-Ollendorff syndrome in a grande multipara: a case report and short review of the literature. ( 9641521 )
1998
37
Buschke-Ollendorff syndrome, otosclerosis, and congenital spinal stenosis. ( 8170846 )
1994
38
Papular elastorrhexis: a variant of dermatofibrosis lenticularis disseminata (Buschke-Ollendorff syndrome)? ( 7873822 )
1994
39
What syndrome is this? Buschke-Ollendorff syndrome. ( 8493179 )
1993
40
Case report: osteopoikilosis and the Buschke-Ollendorff syndrome. ( 8391368 )
1993
41
Buschke-Ollendorff syndrome associated with elevated elastin production by affected skin fibroblasts in culture. ( 1629625 )
1992
42
Buschke-Ollendorff syndrome of the scalp: histologic and ultrastructural findings. ( 2050847 )
1991
43
Clinical considerations in Buschke-Ollendorff syndrome. ( 2302824 )
1990
44
Connective tissue nevus and osteopoikilosis in the hand: the Buschke-Ollendorff syndrome. ( 2738341 )
1989
45
Buschke-Ollendorff syndrome--disseminated dermatofibrosis with osteopoikilosis. ( 3519011 )
1986
46
Buschke-Ollendorff syndrome: report of a case. ( 3733487 )
1986
47
Buschke-ollendorff syndrome. ( 6825465 )
1983
48
An elastic tissue defect in dermatofibrosis lenticularis disseminata. Buschke-Ollendorff syndrome. ( 7066092 )
1982
49
Biochemical and ultrastructural demonstration of elastin accumulation in the skin lesions of the Buschke-Ollendorff syndrome. ( 7205030 )
1981
50
Juvenile elastoma and osteopoikilosis (the Buschke--Ollendorff syndrome). ( 588450 )
1977

Variations for Buschke-Ollendorff Syndrome

ClinVar genetic disease variations for Buschke-Ollendorff Syndrome:

6
id 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:

id 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:

id 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:

id 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

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