BZX
MCID: BZX001
MIFTS: 46

Bazex Syndrome (BZX)

Categories: Cancer diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bazex Syndrome

MalaCards integrated aliases for Bazex Syndrome:

Name: Bazex Syndrome 57 53 59 13
Follicular Atrophoderma and Basal Cell Carcinomas 57 53
Bazex-Dupre-Christol Syndrome 57 53
Bdcs 57 53
Bzx 57 53
Follicular Atrophoderma-Basocellular Proliferations-Hypotrichosis Syndrome 53
Follicular Atrophoderma-Basal Cell Carcinoma Syndrome 53
Follicular Atrophoderma and Basal Cell Epitheliomata 73
Follicular Atrophoderma-Basal Cell Carcinoma 59
Acrokeratosis Paraneoplastica of Bazex 59
Bazex-Dupre-Christol Syndrome; Bdcs 57
Bazex-Dupré-Christol Syndrome 53
Acrokeratosis Paraneoplastica 59
Bazexdupr�christol Syndrome 76
Acrokeratosis of Bazex 59

Characteristics:

Orphanet epidemiological data:

59
bazex syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Miscellaneous:
onset in infancy or early childhood
basal cell neoplasms develop after second decade

Inheritance:
x-linked dominant


HPO:

32
bazex syndrome:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


Summaries for Bazex Syndrome

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 113Disease definitionBazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.EpidemiologySo far, 143 cases have been reported, mostly from France and Belgium.Clinical descriptionThe disease manifests during the neonatal period or during infancy. It is characterized by hypotrichosis, hypohidrosis, milia and basal cell carcinomas of early onset. Follicular atrophoderma is frequent and most common on the dorsum of the hands and feet, the extensor surfaces of the elbows and knees, and the face. Hypotrichosis affects the scalp and sometimes the eyebrows. The milia papules and basal cell carcinomas are located predominantly on the face. Basal cell carcinomas develop in 40% of patients, usually during the 2nd or 3rd decade of life. Additional common features include basal cell hamartomas, trichoepitheliomas and, in very rare cases, atopy, keratosis pilaris, ichthyosis, arachnodactyly with joint hyperlaxity, osteochondritis, deafness and learning difficulties.EtiologyThe gene has been mapped to the long arm of the X chromosome, within the Xq24-q27.1 region. UBE2A (Xq24), encoding a protein involved in repair of UV-damaged DNA, has been proposed as a candidate gene.Differential diagnosisThe differential diagnosis should include Gorlin syndrome, which also leads to multiple basal cell carcinomas of early onset, and X-linked dominant chondrodysplasia punctata (see these terms) in which follicular atrophoderma may also be observed. Rombo syndrome and generalized basaloid follicular hamartoma syndrome (see these terms) should also be included in the differential diagnosis.Genetic counselingTransmission is X-linked dominant.Management and treatmentManagement involves photoprotection and early detection of basal cell carcinomas. Surgical intervention, and sometimes cryosurgery or topical imiquimod, are indicated for basal cell carcinomas. Radiotherapy is contraindicated.Visit the Orphanet disease page for more resources.

MalaCards based summary : Bazex Syndrome, also known as follicular atrophoderma and basal cell carcinomas, is related to brachydactyly, type c and collecting duct carcinoma. An important gene associated with Bazex Syndrome is BZX (Bazex Syndrome), and among its related pathways/superpathways are G-protein signaling_RhoA regulation pathway and Lung fibrosis. Affiliated tissues include skin, lung and breast, and related phenotypes are anemia and palmoplantar keratoderma

OMIM : 57 Bazex syndrome is an X-linked dominant disorder characterized by a triad of congenital hypotrichosis, follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows or knees, and the development of basal cell neoplasms, including basal cell nevi and basal cell carcinomas from the second decade onward (Yung and Newton-Bishop, 2005). Rombo syndrome (180730) has similar features, but shows autosomal dominant inheritance. (301845)

Wikipedia : 76 Bazex�??Dupr�?Christol syndrome (also known as "Bazex syndrome", and "follicular atrophoderma and... more...

Related Diseases for Bazex Syndrome

Diseases related to Bazex Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 35)
# Related Disease Score Top Affiliating Genes
1 brachydactyly, type c 11.4
2 collecting duct carcinoma 11.2
3 pili torti, early-onset 11.1
4 basal cell carcinoma 1 11.1
5 pili torti 11.1
6 squamous cell carcinoma 10.3
7 adenocarcinoma 10.2
8 systemic lupus erythematosus 10.2
9 ovarian cancer 10.2
10 ovarian cancer 1 10.2
11 cervical squamous cell carcinoma 10.2
12 peripheral t-cell lymphoma 10.2
13 thymus cancer 10.2
14 lupus erythematosus 10.2
15 bronchial adenomas/carcinoids childhood 10.2
16 carcinoid syndrome 10.2
17 lichen planus 10.2
18 lichen planus pigmentosus 10.2
19 breast cancer 10.0
20 hepatocellular carcinoma 10.0
21 ichthyosis 10.0
22 dermatitis 10.0
23 hypotrichosis 10.0
24 lung cancer 9.9
25 suppression of tumorigenicity 12 9.9
26 gastric cancer 9.9
27 alopecia 9.9
28 follicular lymphoma 9.9
29 lymphoma 9.9
30 dermatomyositis 9.9
31 hypohidrosis 9.9
32 colon adenocarcinoma 9.9
33 lung squamous cell carcinoma 9.9
34 alopecia areata 9.9
35 ichthyosis, acquired 9.9

Graphical network of the top 20 diseases related to Bazex Syndrome:



Diseases related to Bazex Syndrome

Symptoms & Phenotypes for Bazex Syndrome

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
joint hypermobility

Skin Nails Hair Skin:
atopic dermatitis
keratosis pilaris
facial milia
facial hyperpigmentation
follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows and knees
more
Head And Neck Nose:
prominent columella
hypoplastic nasal alae
pinched nose
long, thin nose

Head And Neck Mouth:
lingua plicata

Skin Nails Hair Hair:
hypotrichosis
trichorrhexis nodosa
pili torti
dry, coarse hair
hair shaft abnormalities

Neoplasia:
basal cell nevi
basal cell carcinomas
basocellular neoplasms
basocellular neoplasms develop after second decade

Head And Neck Face:
facial milia
facial hyperpigmentation


Clinical features from OMIM:

301845

Human phenotypes related to Bazex Syndrome:

59 32 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
2 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
3 parakeratosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001036
4 nail dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0008404
5 yellow nails 59 32 hallmark (90%) Very frequent (99-80%) HP:0011367
6 scaling skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0040189
7 abnormal blistering of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0008066
8 liposarcoma 59 32 frequent (33%) Frequent (79-30%) HP:0012034
9 lip hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0100816
10 acanthosis nigricans 59 32 occasional (7.5%) Occasional (29-5%) HP:0000956
11 edema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000969
12 pruritus 59 32 very rare (1%) Very rare (<4-1%) HP:0000989
13 lung adenocarcinoma 59 32 very rare (1%) Very rare (<4-1%) HP:0030078
14 macrotia 32 occasional (7.5%) HP:0000400
15 coarse hair 32 hallmark (90%) HP:0002208
16 subcutaneous nodule 32 frequent (33%) HP:0001482
17 exostoses 32 occasional (7.5%) HP:0100777
18 hyperkeratosis 59 Very frequent (99-80%)
19 neoplasm 59 Very frequent (99-80%)
20 hypohidrosis 32 HP:0000966
21 nevus 32 HP:0003764
22 underdeveloped nasal alae 32 HP:0000430
23 abnormality of the mouth 32 HP:0000153
24 hypoplasia of the ear cartilage 32 occasional (7.5%) HP:0100720
25 joint hypermobility 32 HP:0001382
26 hypotrichosis 32 HP:0001006
27 eczema 32 occasional (7.5%) HP:0000964
28 abnormality of finger 32 occasional (7.5%) HP:0001167
29 abnormality of the clavicle 32 occasional (7.5%) HP:0000889
30 sparse hair 32 frequent (33%) HP:0008070
31 trichorrhexis nodosa 32 frequent (33%) HP:0009886
32 hyperpigmentation of the skin 32 HP:0000953
33 atopic dermatitis 32 HP:0001047
34 pili torti 32 frequent (33%) HP:0003777
35 sparse or absent eyelashes 32 frequent (33%) HP:0200102
36 milia 32 frequent (33%) HP:0001056
37 narrow nasal ridge 32 HP:0000418
38 basal cell carcinoma 32 frequent (33%) HP:0002671
39 hypotrichosis of the scalp 32 frequent (33%) HP:0004782
40 low hanging columella 32 HP:0009765
41 sparse and thin eyebrow 32 frequent (33%) HP:0000535
42 acne inversa 32 occasional (7.5%) HP:0040154
43 trichoepithelioma 32 occasional (7.5%) HP:0025367

GenomeRNAi Phenotypes related to Bazex Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-1 9.56 ACTRT1 FGF7
2 Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization GR00242-A-2 9.56 ACTRT1 FGF7
3 Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation GR00242-A-4 9.16 ACTRT1 FGF7
4 Decreased viability after sindbis virus (SIN) dsTE12Q infection GR00242-A-3 8.62 ACTRT1 FGF7

Drugs & Therapeutics for Bazex Syndrome

Search Clinical Trials , NIH Clinical Center for Bazex Syndrome

Genetic Tests for Bazex Syndrome

Anatomical Context for Bazex Syndrome

MalaCards organs/tissues related to Bazex Syndrome:

41
Skin, Lung, Breast, Colon, Prostate, T Cells, Thymus

Publications for Bazex Syndrome

Articles related to Bazex Syndrome:

(show top 50) (show all 61)
# Title Authors Year
1
Bazex syndrome in a patient with head and neck malignancy. ( 29846313 )
2018
2
Acrokeratosis paraneoplastica (Bazex syndrome). ( 29036561 )
2018
3
Acrokeratosis Neoplastica (Bazex Syndrome) ( 29083711 )
2017
4
Acrokeratosis paraneoplastica (Bazex syndrome) - a systematic review on risk factors, diagnosis, prognosis and management. ( 28273374 )
2017
5
Bazex Syndrome. ( 29279508 )
2017
6
Bazex syndrome. ( 28461377 )
2017
7
Paraneoplastic acrokeratosis (Bazex syndrome): unusual association with in situ follicular lymphoma and response to acitretin. ( 28961299 )
2017
8
Acrokeratosis paraneoplastica (Bazex syndrome). ( 29121372 )
2017
9
Acrokeratosis paraneoplastica (Bazex syndrome) associated with metastatic cutaneous squamous cell carcinoma. ( 26813906 )
2016
10
Case Report: Bazex Syndrome Associated With Pulmonary Adenocarcinoma. ( 26765420 )
2016
11
Bazex Syndrome in Lung Squamous Cell Carcinoma: High Expression of Epidermal Growth Factor Receptor in Lesional Keratinocytes with Th2 Immune Shift. ( 28101024 )
2016
12
Acitretin amelioration of Acrokeratosis Paraneoplastica (Bazex Syndrome) in cases of incurable squamous cell carcinoma of the hypopharynx. ( 28329620 )
2016
13
Bazex Syndrome with Hypoalbuminemia and Severe Ascites. ( 27721759 )
2016
14
Psoriasiform dermatitis and hepatocellular carcinoma: a new case of Bazex syndrome. ( 26333558 )
2015
15
Acute Onset of Acrokeratosis Paraneoplastica (Bazex Syndrome). ( 25760248 )
2015
16
Bazex syndrome revealing a gastric cancer. ( 24926258 )
2014
17
A case of bazex syndrome with genital involvement. ( 25252025 )
2014
18
Bazex syndrome (acrokeratosis paraneoplastica). ( 25065696 )
2014
19
Bazex syndrome. ( 24346922 )
2013
20
Psoriasiform dermatitis in a case of newly diagnosed locally advanced pyriform sinus tumour: Bazex syndrome revisited. ( 22252191 )
2012
21
Re-exacerbation of cutaneous lesions in Bazex syndrome (acrokeratosis paraneoplastica) without tumor recurrence. ( 23220249 )
2012
22
Acrokeratosis paraneoplastica (Bazex syndrome): report of a case associated with small cell lung carcinoma and review of the literature. ( 22470801 )
2011
23
Coexistence of papuloerythroderma of Ofuji and acrokeratosis paraneoplastica (Bazex syndrome) preceding the diagnosis of primary hepatocellular carcinoma. ( 22004495 )
2011
24
Bazex syndrome (acrokeratosis paraneoplastica) diagnosed in a patient with oral persistent ulcerations. ( 20721648 )
2010
25
Bazex syndrome (acrokeratosis paraneoplastica): persistence of cutaneous lesions after successful treatment of an associated oropharyngeal neoplasm. ( 18775590 )
2009
26
Three simultaneous paraneoplastic manifestations (ichthyosis acquisita, Bazex syndrome, and Leser-TrAclat sign) with prostate adenocarcinoma. ( 19700026 )
2009
27
Paraneoplastic acrokeratosis (bazex syndrome) in lung cancer. ( 19826120 )
2009
28
Acrokeratosis paraneoplastica (Bazex syndrome). ( 19439904 )
2009
29
Acrokeratosis paraneoplastica Bazex syndrome associated with esophageal squamocellular carcinoma. ( 18672707 )
2008
30
Bazex syndrome or dermatomyositis? ( 17504722 )
2007
31
Bazex syndrome (acrokeratosis paraneoplastica). ( 17292773 )
2007
32
Paraneoplastic dermatosis suspected of being Bazex syndrome in a woman with breast cancer. ( 17951155 )
2007
33
Acrokeratosis paraneoplastica (Bazex syndrome) presenting in a patient with metastatic breast carcinoma: possible etiologic role of zinc. ( 17374318 )
2007
34
Acrokeratosis paraneoplastica (Bazex syndrome): case report and review of literature. ( 16638379 )
2006
35
Acrokeratosis paraneoplastica (Bazex syndrome) preceeding the diagnosis of metastatic squamous cell carcinoma of the esophagus. ( 15793535 )
2005
36
Acrokeratosis paraneoplastica: Bazex syndrome. ( 15857461 )
2005
37
Acrokeratosis paraneoplastica (Bazex syndrome) associated with breast cancer. ( 15245551 )
2004
38
Acrokeratosis paraneoplastica (Bazex syndrome): an atypical presentation. ( 15347503 )
2004
39
Flexural Bazex syndrome associated with tonsillar adenocarcinoma. ( 15552609 )
2004
40
Bazex syndrome (paraneoplastic acrokeratosis). ( 15605965 )
2004
41
Bazex syndrome. ( 11455158 )
2001
42
Bullous lesions in Bazex syndrome and successful treatment with oral psoralen phototherapy. ( 11903162 )
2001
43
Acrokeratosis paraneoplastica (Bazex syndrome) with adenocarcinoma of the colon: report of a case and review of the literature. ( 10864355 )
2000
44
Bazex syndrome: acrokeratosis paraneoplastica in association with simultaneous multiple genitourinary tumors. ( 10869650 )
2000
45
Bazex syndrome mimicking a primary autoimmune bullous disorder. ( 10321625 )
1999
46
Bazex syndrome (acrokeratosis paraneoplastica). ( 9592679 )
1998
47
Acrokeratosis paraneoplastica: Bazex syndrome. ( 8949310 )
1996
48
Overlap between the Bazex syndrome and congenital hypotrichosis and milia. ( 7677860 )
1995
49
Acrokeratosis paraneoplastica (Bazex syndrome) occurring with acquired ichthyosis in Hodgkin's disease. ( 7547410 )
1995
50
Bazex syndrome: acrokeratosis paraneoplastica. ( 7640201 )
1995

Variations for Bazex Syndrome

Cosmic variations for Bazex Syndrome:

9 (show all 16)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM17551 PTCH1 skin,knee,carcinoma,basal cell carcinoma c.1396C>T p.Q466* 9:95477654-95477654 14
2 COSM96936 PTCH1 skin,elbow,carcinoma,basal cell carcinoma c.2885G>C p.R962T 9:95459602-95459602 14
3 COSM10704 TP53 skin,arm,other,keratosis c.844C>T p.R282W 17:7673776-7673776 2
4 COSM44552 TP53 skin,arm,other,keratosis c.509C>T p.T170M 17:7675103-7675103 2
5 COSM43742 TP53 skin,arm,other,keratosis c.419C>T p.T140I 17:7675193-7675193 2
6 COSM44676 TP53 skin,arm,other,keratosis c.714T>G p.C238W 17:7674249-7674249 2
7 COSM44547 TP53 skin,arm,other,keratosis c.677G>A p.G226D 17:7674286-7674286 2
8 COSM43846 TP53 skin,arm,other,keratosis c.487T>C p.Y163H 17:7675125-7675125 2
9 COSM11152 TP53 skin,arm,other,keratosis c.700T>C p.Y234H 17:7674263-7674263 2
10 COSM44684 TP53 skin,arm,other,keratosis c.965C>T p.P322L 17:7673563-7673563 2
11 COSM44673 TP53 skin,arm,other,keratosis c.284C>T p.S95F 17:7676085-7676085 2
12 COSM10656 TP53 skin,arm,other,keratosis c.742C>T p.R248W 17:7674221-7674221 2
13 COSM11166 TP53 skin,arm,other,keratosis c.406C>T p.Q136* 17:7675206-7675206 2
14 COSM44674 TP53 skin,arm,other,keratosis c.968T>C p.L323P 17:7673560-7673560 2
15 COSM44677 TP53 skin,arm,other,keratosis c.266C>T p.P89L 17:7676103-7676103 2
16 COSM44678 TP53 skin,arm,other,keratosis c.415A>T p.K139* 17:7675197-7675197 2

Expression for Bazex Syndrome

Search GEO for disease gene expression data for Bazex Syndrome.

Pathways for Bazex Syndrome

Pathways related to Bazex Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.65 FGF7 TGFA
2 10.42 FGF7 TGFA

GO Terms for Bazex Syndrome

Biological processes related to Bazex Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.16 FGF7 TGFA
2 positive regulation of epithelial cell proliferation GO:0050679 8.96 FGF7 TGFA
3 positive regulation of cell division GO:0051781 8.62 FGF7 TGFA

Molecular functions related to Bazex Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.62 FGF7 TGFA

Sources for Bazex Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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