BZX
MCID: BZX001
MIFTS: 44

Bazex Syndrome (BZX)

Categories: Cancer diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bazex Syndrome

MalaCards integrated aliases for Bazex Syndrome:

Name: Bazex Syndrome 58 54 60 13
Follicular Atrophoderma and Basal Cell Carcinomas 58 54
Bazex-Dupre-Christol Syndrome 58 54
Bazex-Dupré-Christol Syndrome 77 54
Bdcs 58 54
Bzx 58 54
Follicular Atrophoderma-Basocellular Proliferations-Hypotrichosis Syndrome 54
Follicular Atrophoderma-Basal Cell Carcinoma Syndrome 54
Follicular Atrophoderma and Basal Cell Epitheliomata 74
Follicular Atrophoderma-Basal Cell Carcinoma 60
Acrokeratosis Paraneoplastica of Bazex 60
Bazex-Dupre-Christol Syndrome; Bdcs 58
Acrokeratosis Paraneoplastica 60
Acrokeratosis of Bazex 60

Characteristics:

Orphanet epidemiological data:

60
bazex syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
Miscellaneous:
onset in infancy or early childhood
basal cell neoplasms develop after second decade

Inheritance:
x-linked dominant


HPO:

33
bazex syndrome:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Bazex Syndrome

NIH Rare Diseases : 54 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 palmoplantar keratoderma and parakeratosis

OMIM : 58 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 : 77 Bazex–Dupré–Christol syndrome is a very rare condition inherited in an X-linked dominant fashion.... more...

Related Diseases for Bazex Syndrome

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



Diseases related to Bazex Syndrome

Symptoms & Phenotypes for Bazex Syndrome

Human phenotypes related to Bazex Syndrome:

60 33 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
2 parakeratosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001036
3 nail dystrophy 60 33 hallmark (90%) Very frequent (99-80%) HP:0008404
4 yellow nails 60 33 hallmark (90%) Very frequent (99-80%) HP:0011367
5 scaling skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0040189
6 coarse hair 33 hallmark (90%) HP:0002208
7 anemia 60 33 frequent (33%) Frequent (79-30%) HP:0001903
8 abnormal blistering of the skin 60 33 frequent (33%) Frequent (79-30%) HP:0008066
9 liposarcoma 60 33 frequent (33%) Frequent (79-30%) HP:0012034
10 lip hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0100816
11 subcutaneous nodule 33 frequent (33%) HP:0001482
12 sparse hair 33 frequent (33%) HP:0008070
13 trichorrhexis nodosa 33 frequent (33%) HP:0009886
14 pili torti 33 frequent (33%) HP:0003777
15 sparse or absent eyelashes 33 frequent (33%) HP:0200102
16 milia 33 frequent (33%) HP:0001056
17 basal cell carcinoma 33 frequent (33%) HP:0002671
18 hypotrichosis of the scalp 33 frequent (33%) HP:0004782
19 sparse and thin eyebrow 33 frequent (33%) HP:0000535
20 acanthosis nigricans 60 33 occasional (7.5%) Occasional (29-5%) HP:0000956
21 edema 60 33 occasional (7.5%) Occasional (29-5%) HP:0000969
22 macrotia 33 occasional (7.5%) HP:0000400
23 exostoses 33 occasional (7.5%) HP:0100777
24 hypoplasia of the ear cartilage 33 occasional (7.5%) HP:0100720
25 eczema 33 occasional (7.5%) HP:0000964
26 abnormality of finger 33 occasional (7.5%) HP:0001167
27 abnormality of the clavicle 33 occasional (7.5%) HP:0000889
28 acne inversa 33 occasional (7.5%) HP:0040154
29 trichoepithelioma 33 occasional (7.5%) HP:0025367
30 pruritus 60 33 very rare (1%) Very rare (<4-1%) HP:0000989
31 lung adenocarcinoma 60 33 very rare (1%) Very rare (<4-1%) HP:0030078
32 hyperkeratosis 60 Very frequent (99-80%)
33 neoplasm 60 Very frequent (99-80%)
34 hypohidrosis 33 HP:0000966
35 nevus 33 HP:0003764
36 underdeveloped nasal alae 33 HP:0000430
37 abnormality of the mouth 33 HP:0000153
38 joint hypermobility 33 HP:0001382
39 hypotrichosis 33 HP:0001006
40 hyperpigmentation of the skin 33 HP:0000953
41 atopic dermatitis 33 HP:0001047
42 narrow nasal ridge 33 HP:0000418
43 low hanging columella 33 HP:0009765
44 keratosis pilaris 33 HP:0032152

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# 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:

42
Skin, Lung, Breast, Colon, T Cells, Prostate

Publications for Bazex Syndrome

Articles related to Bazex Syndrome:

(show top 50) (show all 62)
# Title Authors Year
1
Acrokeratosis paraneoplastica (Bazex syndrome) associated with peripheral T-cell lymphoma. ( 30581941 )
2019
2
Acrokeratosis paraneoplastica (Bazex syndrome). ( 29036561 )
2018
3
Bazex Syndrome. ( 29279508 )
2018
4
Bazex syndrome in a patient with head and neck malignancy. ( 29846313 )
2018
5
Acrokeratosis paraneoplastica (Bazex syndrome) - a systematic review on risk factors, diagnosis, prognosis and management. ( 28273374 )
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
Case Report: Bazex Syndrome Associated With Pulmonary Adenocarcinoma. ( 26765420 )
2016
10
Acrokeratosis paraneoplastica (Bazex syndrome) associated with metastatic cutaneous squamous cell carcinoma. ( 26813906 )
2016
11
Bazex Syndrome with Hypoalbuminemia and Severe Ascites. ( 27721759 )
2016
12
Bazex Syndrome in Lung Squamous Cell Carcinoma: High Expression of Epidermal Growth Factor Receptor in Lesional Keratinocytes with Th2 Immune Shift. ( 28101024 )
2016
13
Acitretin amelioration of Acrokeratosis Paraneoplastica (Bazex Syndrome) in cases of incurable squamous cell carcinoma of the hypopharynx. ( 28329620 )
2016
14
Acute Onset of Acrokeratosis Paraneoplastica (Bazex Syndrome). ( 25760248 )
2015
15
Psoriasiform dermatitis and hepatocellular carcinoma: a new case of Bazex syndrome. ( 26333558 )
2015
16
Bazex syndrome revealing a gastric cancer. ( 24926258 )
2014
17
Bazex syndrome (acrokeratosis paraneoplastica). ( 25065696 )
2014
18
A case of bazex syndrome with genital involvement. ( 25252025 )
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
Coexistence of papuloerythroderma of Ofuji and acrokeratosis paraneoplastica (Bazex syndrome) preceding the diagnosis of primary hepatocellular carcinoma. ( 22004495 )
2011
23
Acrokeratosis paraneoplastica (Bazex syndrome): report of a case associated with small cell lung carcinoma and review of the literature. ( 22470801 )
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
Acrokeratosis paraneoplastica (Bazex syndrome). ( 19439904 )
2009
27
Three simultaneous paraneoplastic manifestations (ichthyosis acquisita, Bazex syndrome, and Leser-Trélat sign) with prostate adenocarcinoma. ( 19700026 )
2009
28
Paraneoplastic acrokeratosis (bazex syndrome) in lung cancer. ( 19826120 )
2009
29
Acrokeratosis paraneoplastica Bazex syndrome associated with esophageal squamocellular carcinoma. ( 18672707 )
2008
30
Acrokeratosis paraneoplastica (Bazex' syndrome) associated with metastatic squamous cell esophageal carcinoma. ( 18838705 )
2008
31
Bazex syndrome (acrokeratosis paraneoplastica). ( 17292773 )
2007
32
Acrokeratosis paraneoplastica (Bazex syndrome) presenting in a patient with metastatic breast carcinoma: possible etiologic role of zinc. ( 17374318 )
2007
33
Bazex syndrome or dermatomyositis? ( 17504722 )
2007
34
Paraneoplastic dermatosis suspected of being Bazex syndrome in a woman with breast cancer. ( 17951155 )
2007
35
Acrokeratosis paraneoplastica (Bazex syndrome): case report and review of literature. ( 16638379 )
2006
36
Acrokeratosis paraneoplastica (Bazex syndrome) preceeding the diagnosis of metastatic squamous cell carcinoma of the esophagus. ( 15793535 )
2005
37
Acrokeratosis paraneoplastica: Bazex syndrome. ( 15857461 )
2005
38
Acrokeratosis paraneoplastica (Bazex syndrome) associated with breast cancer. ( 15245551 )
2004
39
Acrokeratosis paraneoplastica (Bazex syndrome): an atypical presentation. ( 15347503 )
2004
40
Flexural Bazex syndrome associated with tonsillar adenocarcinoma. ( 15552609 )
2004
41
Bazex syndrome (paraneoplastic acrokeratosis). ( 15605965 )
2004
42
Bazex syndrome. ( 11455158 )
2001
43
Bullous lesions in Bazex syndrome and successful treatment with oral psoralen phototherapy. ( 11903162 )
2001
44
Acrokeratosis paraneoplastica (Bazex syndrome) with adenocarcinoma of the colon: report of a case and review of the literature. ( 10864355 )
2000
45
Bazex syndrome: acrokeratosis paraneoplastica in association with simultaneous multiple genitourinary tumors. ( 10869650 )
2000
46
Bazex syndrome mimicking a primary autoimmune bullous disorder. ( 10321625 )
1999
47
Bazex syndrome (acrokeratosis paraneoplastica). ( 9592679 )
1998
48
Acrokeratosis paraneoplastica: Bazex syndrome. ( 8949310 )
1996
49
Acrokeratosis paraneoplastica (Bazex syndrome) associated with primary cutaneous squamous cell carcinoma of the lower leg, vitiligo and alopecia areata. ( 7669622 )
1995
50
Acrokeratosis paraneoplastica (Bazex syndrome) occurring with acquired ichthyosis in Hodgkin's disease. ( 7547410 )
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 COSM11166 TP53 skin,arm,other,keratosis c.406C>T p.Q136* 17:7675206-7675206 0
2 COSM44552 TP53 skin,arm,other,keratosis c.509C>T p.T170M 17:7675103-7675103 0
3 COSM43742 TP53 skin,arm,other,keratosis c.419C>T p.T140I 17:7675193-7675193 0
4 COSM44676 TP53 skin,arm,other,keratosis c.714T>G p.C238W 17:7674249-7674249 0
5 COSM44547 TP53 skin,arm,other,keratosis c.677G>A p.G226D 17:7674286-7674286 0
6 COSM43846 TP53 skin,arm,other,keratosis c.487T>C p.Y163H 17:7675125-7675125 0
7 COSM11152 TP53 skin,arm,other,keratosis c.700T>C p.Y234H 17:7674263-7674263 0
8 COSM44684 TP53 skin,arm,other,keratosis c.965C>T p.P322L 17:7673563-7673563 0
9 COSM44673 TP53 skin,arm,other,keratosis c.284C>T p.S95F 17:7676085-7676085 0
10 COSM10656 TP53 skin,arm,other,keratosis c.742C>T p.R248W 17:7674221-7674221 0
11 COSM10704 TP53 skin,arm,other,keratosis c.844C>T p.R282W 17:7673776-7673776 0
12 COSM44674 TP53 skin,arm,other,keratosis c.968T>C p.L323P 17:7673560-7673560 0
13 COSM44677 TP53 skin,arm,other,keratosis c.266C>T p.P89L 17:7676103-7676103 0
14 COSM44678 TP53 skin,arm,other,keratosis c.415A>T p.K139* 17:7675197-7675197 0
15 COSM96936 PTCH1 skin,elbow,carcinoma,basal cell carcinoma c.2885G>C p.R962T 9:95459602-95459602 0
16 COSM17551 PTCH1 skin,knee,carcinoma,basal cell carcinoma c.1396C>T p.Q466* 9:95477654-95477654 0

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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