BZX
MCID: BZX001
MIFTS: 37

Bazex Syndrome (BZX)

Categories: Cancer diseases, Fetal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Bazex Syndrome

MalaCards integrated aliases for Bazex Syndrome:

Name: Bazex Syndrome 57 19 58 12 75
Follicular Atrophoderma and Basal Cell Carcinomas 57 19 58
Bazex-Dupre-Christol Syndrome 57 19 58
Bdcs 57 19 58
Bazex-Dupré-Christol Syndrome 19 75
Bzx 57 19
Follicular Atrophoderma-Basocellular Proliferations-Hypotrichosis Syndrome 19
Follicular Atrophoderma-Basal Cell Carcinoma Syndrome 19
Follicular Atrophoderma and Basal Cell Epitheliomata 71
Acrokeratosis Paraneoplastica of Bazex 58
Acrokeratosis Paraneoplastica 58
Acrokeratosis of Bazex 58

Characteristics:


Inheritance:

Bazex Syndrome: X-linked dominant 57
Bazex-Dupre-Christol Syndrome: X-linked dominant 58

Prevelance:

Bazex Syndrome: <1/1000000 (Worldwide) 58
Bazex-Dupre-Christol Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Bazex Syndrome: Adult 58
Bazex-Dupre-Christol Syndrome: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy or early childhood
basal cell neoplasms develop after second decade


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Bazex Syndrome

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 08-Dec-2022)

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). Affiliated tissues include skin, lung and tongue, and related phenotypes are coarse hair and palmoplantar keratoderma

Orphanet 58 Bazex syndrome: Bazex syndrome is a rare paraneoplastic syndrome characterized by acral psoriasiform lesions.

Bazex-dupre-christol syndrome: Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.

GARD: 19 Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.

Wikipedia: 75 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 104)
# Related Disease Score Top Affiliating Genes
1 pili torti, early-onset 11.3
2 basal cell carcinoma 1 11.1
3 erythrokeratoderma ''en cocardes'' 10.8
4 skin carcinoma 10.6
5 rare genetic skin disease 10.5
6 attention deficit-hyperactivity disorder 10.3
7 chondrodysplasia punctata syndrome 10.3
8 x-linked chondrodysplasia punctata 2 10.3
9 miliaria 10.3
10 ectodermal dysplasia 10.3
11 hidradenitis suppurativa 10.3
12 hidradenitis 10.3
13 skin benign neoplasm 10.3
14 folliculitis 10.3
15 ciliopathy 10.3
16 squamous cell carcinoma 10.2
17 basal cell carcinoma 10.2
18 skin disease 10.2
19 thyroid cancer, nonmedullary, 1 10.1
20 cholangiocarcinoma 10.1
21 lichen planus pigmentosus 10.1
22 thyroid carcinoma 10.1
23 lung cancer 10.1
24 nail disorder, nonsyndromic congenital, 9 10.1
25 dermatitis 10.1
26 skin atrophy 10.1
27 acanthosis nigricans 10.1
28 bladder cancer 10.1
29 carcinoid tumors, intestinal 10.1
30 carpal tunnel syndrome 10.1
31 systemic lupus erythematosus 10.1
32 ovarian cancer 10.1
33 systemic lupus erythematosus 1 10.1
34 mononeuropathy of the median nerve, mild 10.1
35 gastric cancer 10.1
36 paraneoplastic pemphigus 10.1
37 larynx cancer 10.1
38 laryngeal benign neoplasm 10.1
39 thymic carcinoma 10.1
40 liposarcoma 10.1
41 hypertrichosis 10.1
42 dermatophytosis 10.1
43 pemphigus 10.1
44 carcinoid syndrome 10.1
45 retroperitoneal liposarcoma 10.1
46 esophageal cancer 10.0
47 nail disorder, nonsyndromic congenital, 1 10.0
48 porphyria cutanea tarda 10.0
49 small cell cancer of the lung 10.0
50 squamous cell carcinoma, head and neck 10.0

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 30 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 coarse hair 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002208
2 palmoplantar keratoderma 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000982
3 nail dystrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008404
4 yellow nails 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0011367
5 scaling skin 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0040189
6 parakeratosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001036
7 anemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001903
8 subcutaneous nodule 58 30 Frequent (33%) Frequent (79-30%)
HP:0001482
9 basal cell carcinoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0002671
10 abnormal blistering of the skin 58 30 Frequent (33%) Frequent (79-30%)
HP:0008066
11 trichorrhexis nodosa 58 30 Frequent (33%) Frequent (79-30%)
HP:0009886
12 sparse eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0045075
13 milia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001056
14 pili torti 58 30 Frequent (33%) Frequent (79-30%)
HP:0003777
15 sparse or absent eyelashes 58 30 Frequent (33%) Frequent (79-30%)
HP:0200102
16 liposarcoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0012034
17 lip hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0100816
18 sparse scalp hair 30 Frequent (33%) HP:0002209
19 macrotia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000400
20 abnormality of finger 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001167
21 acanthosis nigricans 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000956
22 exostoses 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100777
23 edema 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000969
24 hypoplasia of the ear cartilage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100720
25 eczema 30 Occasional (7.5%) HP:0000964
26 trichoepithelioma 30 Occasional (7.5%) HP:0025367
27 acne inversa 30 Occasional (7.5%) HP:0040154
28 abnormal clavicle morphology 30 Occasional (7.5%) HP:0000889
29 pruritus 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000989
30 lung adenocarcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030078
31 sparse hair 58 30 Frequent (79-30%)
HP:0008070
32 hyperkeratosis 58 Very frequent (99-80%)
33 hypohidrosis 30 HP:0000966
34 nevus 30 HP:0003764
35 joint hypermobility 30 HP:0001382
36 neoplasm 58 Very frequent (99-80%)
37 abnormality of the clavicle 58 Occasional (29-5%)
38 underdeveloped nasal alae 30 HP:0000430
39 furrowed tongue 30 HP:0000221
40 keratosis pilaris 30 HP:0032152
41 hypotrichosis of the scalp 58 Frequent (79-30%)
42 hyperpigmentation of the skin 30 HP:0000953
43 atopic dermatitis 30 HP:0001047
44 narrow nasal ridge 30 HP:0000418
45 low hanging columella 30 HP:0009765

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Skeletal:
joint hypermobility

Skin Nails Hair Skin:
keratosis pilaris
atopic dermatitis
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 08-Dec-2022)

Drugs & Therapeutics for Bazex Syndrome

Search Clinical Trials, NIH Clinical Center for Bazex Syndrome

Genetic Tests for Bazex Syndrome

Anatomical Context for Bazex Syndrome

Organs/tissues related to Bazex Syndrome:

MalaCards : Skin, Lung, Tongue, Bone, Lymph Node, Prostate, Breast

Publications for Bazex Syndrome

Articles related to Bazex Syndrome:

(show top 50) (show all 267)
# Title Authors PMID Year
1
A case of Bazex-Dupré-Christol syndrome associated with multiple genital trichoepitheliomas. 62 57
16120174 2005
2
Hereditary perioral pigmented follicular atrophoderma associated with milia and epidermoid cysts. 62 57
10025974 1998
3
A Scottish family with Bazex-Dupré-Christol syndrome: follicular atrophoderma, congenital hypotrichosis, and basal cell carcinoma. 62 57
8782050 1996
4
The gene for Bazex-Dupré-Christol syndrome maps to chromosome Xq. 62 57
7615983 1995
5
Overlap between the Bazex syndrome and congenital hypotrichosis and milia. 62 57
7677860 1995
6
Bazex-Dupré-Christol syndrome: a possible diagnosis for basal cell carcinomas, coarse sparse hair, and milia. 62 57
8456866 1993
7
Follicular atrophoderma and basal cell carcinomas: the Bazex syndrome. 62 57
879818 1977
8
Congenital hypotrichosis and milia: report of a large family suggesting X-linked dominant inheritance. 57
7747764 1994
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
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome. 62
35986704 2022
16
Novel Mathematical Diagnostic Analysis of Malignant Biliary Stenosis Using Magnetic Resonance Cholangiography in Patients Undergoing Pancreaticoduodenectomy. 62
36340462 2022
17
Evaluation of maxillary sinus dimensions and volume using cone beam computed tomography in patients with unilaterally displaced palatal and buccal maxillary canines. 62
36380171 2022
18
Inhibition of Dopamine Receptor D1 Signaling Promotes Human Bile Duct Cancer Progression via WNT signaling. 62
36441110 2022
19
Evaluation of maxillary canine root and maxillary bone thickness and density in patients with displaced maxillary canines: A cone-beam tomography study. 62
35430090 2022
20
Acrokeratosis Paraneoplastica (Bazex Syndrome): A Case Report. 62
36466753 2022
21
A case of Bazex syndrome with type 2 immune response 62
36468724 2022
22
Video Vectorization via Bipartite Diffusion Curves Propagation and Optimization. 62
33621178 2022
23
Bazex Syndrome Associated with Squamous Cell Carcinoma of the Lip: A Rare Paraneoplastic Acrokeratosis with Nail Dystrophy. 62
35983469 2022
24
Blood DCs activated with R848 and poly(I:C) induce antigen-specific immune responses against viral and tumor-associated antigens. 62
34821951 2022
25
Advanced basal cell carcinoma: What dermatologists need to know about diagnosis. 62
35577405 2022
26
Acrokeratosis of Bazex as a sign of thyroid cancer: first description and review of thyroid-associated paraneoplastic dermatoses. 62
35776037 2022
27
Trends in Debt Valuations of Private Equity-Backed Dermatology Groups Before and During the COVID-19 Pandemic. 62
35262637 2022
28
The effectiveness of planned discharge education on health knowledge and beliefs in patients with acute myocardial infarction: a randomized controlled trial. 62
33728530 2022
29
A Case of Bazex Syndrome. 62
34334566 2022
30
Paraneoplastic Syndromes in Patients with Keratinocyte Skin Cancer. 62
35008413 2022
31
Analysis of somatic copy number alterations in biliary tract carcinoma using a single nucleotide polymorphism array. 62
34900340 2022
32
An Unusual Encounter of Skin Condition Mimicking Acrokeratosis Paraneoplastica (Bazex Syndrome). 62
34660055 2021
33
Biliary and duodenal complications after « en bloc» liver-small bowel transplantation in children. A single center cohort study. 62
34120395 2021
34
Pili Torti: A Feature of Numerous Congenital and Acquired Conditions. 62
34501349 2021
35
ARP-T1-associated Bazex-Dupré-Christol syndrome is an inherited basal cell cancer with ciliary defects characteristic of ciliopathies. 62
33972689 2021
36
A Review of Nail Changes in Acrokeratosis Paraneoplastica (Bazex Syndrome). 62
34055903 2021
37
Clinical Utility of Bile Duct Axis Deviation for Differential Diagnosis Between Pancreatic Head Cancer and Bile Duct Cancer. 62
33153309 2021
38
Paraneoplastic acrokeratosis (Bazex syndrome). 62
32197862 2021
39
Acrokeratosis paraneoplastica (Bazex syndrome) as the presenting sign of pancreatic adenocarcinoma. 62
33318269 2020
40
Diagnostic accuracy of administrative database for bile duct cancer by ICD-10 code in a tertiary institute in Korea. 62
32249128 2020
41
A series of typical and atypical cases of Bazex syndrome: Identifying the red herring to avoid delaying cancer treatment. 62
33235772 2020
42
An Unconventional Presentation of Multiple Myeloma: Bazex Syndrome 62
32830932 2020
43
Overexpression of Holocarboxylase Synthetase Predicts Lymph Node Metastasis and Unfavorable Prognosis in Breast Cancer. 62
32727786 2020
44
From the Outside Looking in: Psoriasiform Dermatitis Presenting as a Paraneoplastic Syndrome for Pancreatic Adenocarcinoma. 62
32782885 2020
45
Comparison of pancreaticoduodenectomy and bile duct resection for middle bile duct cancer: A multi-center collaborating study of Japan and Korea. 62
32048467 2020
46
Acrokeratosis paraneoplastica (Bazex syndrome) with bullous lesions. 62
31339109 2020
47
Contrast-enhanced ultrasonography features of hepatobiliary neoplasms in cats. 62
31582574 2020
48
Patterns of gene mutations in bile duct cancers: is it time to overcome the anatomical classification? 62
31122820 2019
49
Synchronous Occurrence of Bazex Syndrome and Remitting Seronegative Symmetrical Synovitis with Pitting Edema Syndrome in a Patient with Lung Cancer. 62
31292397 2019
50
Clinical, Imaging, and Pathologic Features of Conditions with Combined Esophageal and Cutaneous Manifestations. 62
31419189 2019

Variations for Bazex Syndrome

Expression for Bazex Syndrome

Search GEO for disease gene expression data for Bazex Syndrome.

Pathways for Bazex Syndrome

GO Terms for Bazex Syndrome

Sources for Bazex Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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