BZX
MCID: BZX001
MIFTS: 45

Bazex Syndrome (BZX)

Categories: Cancer diseases, Fetal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bazex Syndrome

MalaCards integrated aliases for Bazex Syndrome:

Name: Bazex Syndrome 57 20 58 13
Follicular Atrophoderma and Basal Cell Carcinomas 57 20 58
Bazex-Dupre-Christol Syndrome 57 20 58
Bdcs 57 20 58
Bazex-Dupré-Christol Syndrome 73 20
Bzx 57 20
Follicular Atrophoderma-Basocellular Proliferations-Hypotrichosis Syndrome 20
Follicular Atrophoderma-Basal Cell Carcinoma Syndrome 20
Follicular Atrophoderma and Basal Cell Epitheliomata 70
Follicular Atrophoderma-Basal Cell Carcinoma 58
Acrokeratosis Paraneoplastica of Bazex 58
Bazex-Dupre-Christol Syndrome; Bdcs 57
Acrokeratosis Paraneoplastica 58
Acrokeratosis of Bazex 58

Characteristics:

Orphanet epidemiological data:

58
bazex syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;
bazex-dupre-christol syndrome
Inheritance: X-linked dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset in infancy or early childhood
basal cell neoplasms develop after second decade

Inheritance:
x-linked dominant


HPO:

31
bazex syndrome:
Onset and clinical course infantile onset
Inheritance x-linked dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Bazex Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 113 Definition Bazex-Dupre-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. Epidemiology So far, 143 cases have been reported, mostly from France and Belgium. Clinical description The 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. Etiology The 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 diagnosis The 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 counseling Transmission is X-linked dominant. Management and treatment Management 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.

MalaCards based summary : Bazex Syndrome, also known as follicular atrophoderma and basal cell carcinomas, is related to pili torti, early-onset and basal cell carcinoma 1. 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. The drugs Trastuzumab and Pembrolizumab have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and breast, and related phenotypes are coarse hair 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) (Updated 05-Apr-2021)

Wikipedia : 73 Bazex-Dupré-Christol syndrome is a very rare condition inherited in an X-linked dominant fashion.... more...

Related Diseases for Bazex Syndrome

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 pili torti, early-onset 11.0
2 basal cell carcinoma 1 11.0
3 pili torti 11.0
4 erythrokeratoderma ''en cocardes'' 10.8
5 rare genetic skin disease 10.5
6 attention deficit-hyperactivity disorder 10.3
7 chondrodysplasia punctata syndrome 10.3
8 miliaria rubra 10.3
9 miliaria 10.3
10 ectodermal dysplasia 10.3
11 hidradenitis suppurativa 10.3
12 hidradenitis 10.3
13 skin carcinoma 10.3
14 follicular basal cell carcinoma 10.3
15 folliculitis 10.3
16 adenocarcinoma 10.2
17 cholangiocarcinoma 10.1
18 intrahepatic cholangiocarcinoma 10.1
19 lichen planus pigmentosus 10.1
20 keratosis 10.1
21 squamous cell carcinoma 10.1
22 dermatitis 10.1
23 skin atrophy 10.1
24 skin disease 10.1
25 acanthosis nigricans 10.1
26 carpal tunnel syndrome 10.1
27 systemic lupus erythematosus 10.1
28 paraneoplastic pemphigus 10.1
29 larynx cancer 10.1
30 thymic carcinoma 10.1
31 liposarcoma 10.1
32 hypertrichosis 10.1
33 lupus erythematosus 10.1
34 dermatophytosis 10.1
35 pemphigus 10.1
36 carcinoid syndrome 10.1
37 retroperitoneal liposarcoma 10.1
38 dysphagia 10.1
39 porphyria cutanea tarda 10.0
40 lymphoma 10.0
41 anhidrosis 10.0
42 porphyria 10.0
43 ichthyosis 10.0
44 lung squamous cell carcinoma 10.0
45 hypotrichosis 10.0
46 lichen planus 10.0
47 paraneoplastic syndromes 10.0
48 hepatocellular carcinoma 9.9
49 esophageal cancer 9.9
50 dowling-degos disease 1 9.9

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:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002208
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 nail dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008404
4 yellow nails 58 31 hallmark (90%) Very frequent (99-80%) HP:0011367
5 scaling skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0040189
6 parakeratosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001036
7 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
8 subcutaneous nodule 58 31 frequent (33%) Frequent (79-30%) HP:0001482
9 basal cell carcinoma 58 31 frequent (33%) Frequent (79-30%) HP:0002671
10 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
11 trichorrhexis nodosa 58 31 frequent (33%) Frequent (79-30%) HP:0009886
12 milia 58 31 frequent (33%) Frequent (79-30%) HP:0001056
13 pili torti 58 31 frequent (33%) Frequent (79-30%) HP:0003777
14 sparse or absent eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0200102
15 liposarcoma 58 31 frequent (33%) Frequent (79-30%) HP:0012034
16 lip hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0100816
17 sparse scalp hair 31 frequent (33%) HP:0002209
18 sparse and thin eyebrow 31 frequent (33%) HP:0000535
19 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
20 abnormality of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001167
21 acanthosis nigricans 58 31 occasional (7.5%) Occasional (29-5%) HP:0000956
22 exostoses 58 31 occasional (7.5%) Occasional (29-5%) HP:0100777
23 edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000969
24 hypoplasia of the ear cartilage 58 31 occasional (7.5%) Occasional (29-5%) HP:0100720
25 eczema 31 occasional (7.5%) HP:0000964
26 trichoepithelioma 31 occasional (7.5%) HP:0025367
27 acne inversa 31 occasional (7.5%) HP:0040154
28 abnormal clavicle morphology 31 occasional (7.5%) HP:0000889
29 pruritus 58 31 very rare (1%) Very rare (<4-1%) HP:0000989
30 lung adenocarcinoma 58 31 very rare (1%) Very rare (<4-1%) HP:0030078
31 sparse hair 58 31 Frequent (79-30%) HP:0008070
32 hyperkeratosis 58 Very frequent (99-80%)
33 hypohidrosis 31 HP:0000966
34 nevus 31 HP:0003764
35 joint hypermobility 31 HP:0001382
36 neoplasm 58 Very frequent (99-80%)
37 abnormality of the mouth 31 HP:0000153
38 abnormality of the clavicle 58 Occasional (29-5%)
39 underdeveloped nasal alae 31 HP:0000430
40 sparse eyebrow 58 Frequent (79-30%)
41 hypotrichosis of the scalp 58 Frequent (79-30%)
42 hyperpigmentation of the skin 31 HP:0000953
43 atopic dermatitis 31 HP:0001047
44 narrow nasal ridge 31 HP:0000418
45 low hanging columella 31 HP:0009765
46 keratosis pilaris 31 HP:0032152

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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

Drugs for Bazex Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Trastuzumab Approved, Investigational Phase 1, Phase 2 180288-69-1 9903
2
Pembrolizumab Approved Phase 1, Phase 2 1374853-91-4
3 Antineoplastic Agents, Immunological Phase 1, Phase 2
4 Antibodies Phase 1, Phase 2
5 Immunoglobulins Phase 1, Phase 2
6 Antibodies, Monoclonal Phase 1, Phase 2
7 Antibodies, Blocking Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase 1/2 Study of BDC-1001 as a Single Agent and in Combination With Pembrolizumab in Patients With Advanced HER2-Expressing Solid Tumors Recruiting NCT04278144 Phase 1, Phase 2 BDC-1001;Pembrolizumab

Search NIH Clinical Center for Bazex Syndrome

Genetic Tests for Bazex Syndrome

Anatomical Context for Bazex Syndrome

MalaCards organs/tissues related to Bazex Syndrome:

40
Lung, Skin, Breast, Colon, Prostate

Publications for Bazex Syndrome

Articles related to Bazex Syndrome:

(show top 50) (show all 124)
# Title Authors PMID Year
1
Overlap between the Bazex syndrome and congenital hypotrichosis and milia. 57 61
7677860 1995
2
Follicular atrophoderma and basal cell carcinomas: the Bazex syndrome. 61 57
879818 1977
3
A case of Bazex-Dupré-Christol syndrome associated with multiple genital trichoepitheliomas. 57
16120174 2005
4
Hereditary perioral pigmented follicular atrophoderma associated with milia and epidermoid cysts. 57
10025974 1998
5
A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. 57
8782050 1996
6
The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq. 57
7615983 1995
7
Congenital hypotrichosis and milia: report of a large family suggesting X-linked dominant inheritance. 57
7747764 1994
8
Bazex-Dupré-Christol syndrome: a possible diagnosis for basal cell carcinomas, coarse sparse hair, and milia. 57
8456866 1993
9
Basal cell carcinomas, coarse sparse hair, and milia. 57
1642265 1992
10
Follicular atrophoderma with multiple basal cell carcinomas (Bazex). 57
708616 1978
11
Studies of the density and the properties of the hair in a new inherited syndrome of hypotrichosis. 57
4220381 1972
12
[Follicular atrophoderma, basocellular proliferations and hypotrichosis]. 57
5126848 1971
13
[Follicular atrophodermia, epidermal cysts and hypotrichosis. Apropos of a familial case of genodermatosis]. 57
5585206 1967
14
[Follicular atrophoderma, baso-cellular proliferations and hypotrichosis]. 57
5963641 1966
15
Paraneoplastic acrokeratosis (Bazex syndrome). 61
32197862 2021
16
Acrokeratosis paraneoplastica (Bazex syndrome) as the presenting sign of pancreatic adenocarcinoma. 61
33318269 2020
17
An Unconventional Presentation of Multiple Myeloma: Bazex Syndrome 61
32830932 2020
18
A series of typical and atypical cases of Bazex syndrome: Identifying the red herring to avoid delaying cancer treatment. 61
33235772 2020
19
From the Outside Looking in: Psoriasiform Dermatitis Presenting as a Paraneoplastic Syndrome for Pancreatic Adenocarcinoma. 61
32782885 2020
20
Acrokeratosis paraneoplastica (Bazex syndrome) with bullous lesions. 61
31339109 2020
21
Synchronous Occurrence of Bazex Syndrome and Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome in a Patient with Lung Cancer. 61
31292397 2019
22
A case report of resolution of acrokeratosis paraneoplastica (Bazex syndrome) post resection of non-small-cell lung carcinoma. 61
31636907 2019
23
Acrokeratosis paraneoplastica (Bazex syndrome) associated with peripheral T-cell lymphoma. 61
30581941 2019
24
Bazex syndrome in a patient with head and neck malignancy. 61
29846313 2018
25
Bazex Syndrome. 61
29279508 2018
26
Acrokeratosis paraneoplastica (Bazex syndrome). 61
29036561 2018
27
Is it just a psoriasiform dermatitis? 61
29447642 2017
28
Acrokeratosis paraneoplastica (Bazex syndrome). 61
29121372 2017
29
Paraneoplastic acrokeratosis (Bazex syndrome): unusual association with in situ follicular lymphoma and response to acitretin. 61
28961299 2017
30
Acrokeratosis paraneoplastica (Bazex syndrome) - a systematic review on risk factors, diagnosis, prognosis and management. 61
28273374 2017
31
Bazex syndrome. 61
28461377 2017
32
Acitretin amelioration of Acrokeratosis Paraneoplastica (Bazex Syndrome) in cases of incurable squamous cell carcinoma of the hypopharynx. 61
28329620 2016
33
Bazex Syndrome in Lung Squamous Cell Carcinoma: High Expression of Epidermal Growth Factor Receptor in Lesional Keratinocytes with Th2 Immune Shift. 61
28101024 2016
34
Bazex Syndrome with Hypoalbuminemia and Severe Ascites. 61
27721759 2016
35
Case Report: Bazex Syndrome Associated With Pulmonary Adenocarcinoma. 61
26765420 2016
36
Acrokeratosis paraneoplastica (Bazex syndrome) associated with metastatic cutaneous squamous cell carcinoma. 61
26813906 2016
37
Acrokeratosis Paraneoplastica Associated with Cervical Squamous Cell Carcinoma. 61
28101384 2016
38
Psoriasiform dermatitis and hepatocellular carcinoma: a new case of Bazex syndrome. 61
26333558 2015
39
Acute Onset of Acrokeratosis Paraneoplastica (Bazex Syndrome). 61
25760248 2015
40
A case of bazex syndrome with genital involvement. 61
25252025 2014
41
Bazex syndrome (acrokeratosis paraneoplastica). 61
25065696 2014
42
Bazex syndrome revealing a gastric cancer. 61
24926258 2014
43
[Hands cutaneous exam]. 61
24157184 2013
44
Bazex syndrome. 61
24346922 2013
45
Paraneoplastic cutaneous manifestations: concepts and updates. 61
23538999 2013
46
Re-exacerbation of cutaneous lesions in Bazex syndrome (acrokeratosis paraneoplastica) without tumor recurrence. 61
23220249 2012
47
Psoriasiform dermatitis in a case of newly diagnosed locally advanced pyriform sinus tumour: Bazex syndrome revisited. 61
22252191 2012
48
Multiple familial and pigmented basal cell carcinomas in early childhood - Bazex-Dupré-Christol syndrome. 61
21435027 2012
49
Coexistence of papuloerythroderma of Ofuji and acrokeratosis paraneoplastica (Bazex syndrome) preceding the diagnosis of primary hepatocellular carcinoma. 61
22004495 2011
50
Cutaneous paraneoplasia. 61
21855730 2011

Variations for Bazex Syndrome

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 TGFA FGF7
2 10.42 TGFA FGF7

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 MAPK cascade GO:0000165 9.32 TGFA FGF7
2 positive regulation of protein kinase B signaling GO:0051897 9.26 TGFA FGF7
3 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.16 TGFA FGF7
4 positive regulation of epithelial cell proliferation GO:0050679 8.96 TGFA FGF7
5 positive regulation of cell division GO:0051781 8.62 TGFA FGF7

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 TGFA FGF7

Sources for Bazex Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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