Bazex-Dupré-Christol syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: BAZEX-DUPRE-CHRISTOL SYNDROME
BZX
BDCS
follicular atrophoderma and basal cell carcinomas
Number of Symptoms 46
OrphanetNr: 113
OMIM Id: 301845
ICD-10: L98.8
UMLs: C0346104
MeSH: C537663
MedDRA:
Snomed: 254820002

Prevalence, inheritance and age of onset:

Prevalence: 143 cases [Orphanet]
Inheritance: X-linked dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital absence of the eyebrow/eyelashes
 -Rare eye disease
 -Rare genetic disease
Genetic skin tumor
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Malignant tumor of palpebral epidermis
 -Rare eye disease
 -Rare genetic disease
Rare skin tumor or hamartoma
 -Rare oncologic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000430) Underdeveloped nasal alae 90 / 7739
2
 (HPO:0000418) Narrow nasal ridge 15 / 7739
3
 (HPO:0000153) Abnormality of the mouth 60 / 7739
4
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
5
 (HPO:0200102) Sparse or absent eyelashes Frequent [Orphanet] 64 / 7739
6
 (HPO:0100720) Hypoplasia of the ear cartilage Occasional [Orphanet] 12 / 7739
7
 (HPO:0001167) Abnormality of finger Occasional [Orphanet] 29 / 7739
8
 (HPO:0100777) Exostoses Occasional [Orphanet] 32 / 7739
9
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
10
 (HPO:0001382) Joint hypermobility 231 / 7739
11
 (HPO:0001051) Seborrheic dermatitis 25 / 7739
12
 (HPO:0003764) Nevus 17 / 7739
13
 (HPO:0009886) Trichorrhexis nodosa 12 / 7739
14
 (HPO:0000964) Eczema rare [HPO:skoehler] 81 / 7739
15
 (HPO:0002671) Basal cell carcinoma 18 / 7739
16
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
17
 (HPO:0000953) Hyperpigmentation of the skin 75 / 7739
18
 (HPO:0000976) Eczematoid dermatitis 22 / 7739
19
 (HPO:0001056) Milia 24 / 7739
20
 (HPO:0001061) Acne 33 / 7739
21
 (HPO:0000966) Hypohidrosis 41 / 7739
22
 (HPO:0002208) Coarse hair 58 / 7739
23
 (HPO:0008069) Neoplasm of the skin Frequent [Orphanet] 84 / 7739
24
 (HPO:0001031) Subcutaneous lipoma Frequent [Orphanet] 112 / 7739
25
 (HPO:0003777) Pili torti Frequent [Orphanet] 24 / 7739
26
 (HPO:0001047) Atopic dermatitis 20 / 7739
27
 (HPO:0002225) Sparse pubic hair Frequent [Orphanet] 76 / 7739
28
 (OMIM) Hypohidrosis, localized, often on face 1 / 7739
29
 (HPO:0001423) X-linked dominant inheritance 69 / 7739
30
 (OMIM) Trichoepithelioma (brown, flat-topped papules) (rare) 2 / 7739
31
 (OMIM) 'Ice-pick marks' 1 / 7739
32
 (OMIM) Hair shaft abnormalities 1 / 7739
33
 (OMIM) Lingua plicata 1 / 7739
34
 (HPO:0003593) Infantile onset 249 / 7739
35
 (OMIM) Facial hyperpigmentation 1 / 7739
36
 (HPO:0400004) Long ear Occasional [Orphanet] 94 / 7739
37
 (OMIM) Facial milia tend to disappear in adulthood 1 / 7739
38
 (OMIM) Long thin nose 2 / 7739
39
 (MedDRA:10066295) Keratosis pilaris 11 / 7739
40
 (OMIM) Basocellular neoplasms 1 / 7739
41
 (OMIM) Dry coarse hair 2 / 7739
42
 (OMIM) Follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows and knees 1 / 7739
43
 (OMIM) Prominent columella 4 / 7739
44
 (OMIM) Facial milia 1 / 7739
45
 (OMIM) Basocellular neoplasms develop after second decade 1 / 7739
46
 (OMIM) Hidradenitis suppurativa (rare) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Bazex et al. (1964, 1966) reported a syndrome comprising hypotrichosis, follicular atrophoderma, and multiple basal cell neoplasms.

Parrish et al. (1972) reported a family of Italian origin in which 11 members spanning 3 generations had hypotrichosis ...