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Follicular atrophoderma and basal cell epitheliomata(BZX)

MedGen UID:
87539
Concept ID:
C0346104
Neoplastic Process
Synonyms: Bazex syndrome; Bazex-Dupre-Christol syndrome; BZX; Follicular atrophoderma and basal cell carcinomas; Follicular atrophoderma-basal cell carcinoma syndrome; Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome
Modes of inheritance:
x-linked dominant
MedGen UID:
376232
Concept ID:
C1847879
Finding
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
x-linked dominant (HPO, OMIM, Orphanet)
SNOMED CT: Bazex-Dupre-Christol syndrome (254820002); Follicular atrophoderma and basal cell epitheliomata (254820002); Bazex syndrome (254820002)
 
Cytogenetic location: Xq24-q27
OMIM®: 301845
Orphanet: ORPHA113

Definition

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. [from OMIM]

Clinical features

Abnormality of the mouth
MedGen UID:
6447
Concept ID:
C0026633
Congenital Abnormality
An abnormality of the mouth.
Carcinoma, Basal Cell
MedGen UID:
2870
Concept ID:
C0007117
Neoplastic Process
A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1471)
Dermatitis, atopic
MedGen UID:
41502
Concept ID:
C0011615
Disease or Syndrome
Atopic dermatitis (ATOD), also known as eczema, is a common chronic pruritic inflammatory skin disease with a strong genetic component. Onset typically occurs during the first 2 years of life (review by Soderhall et al., 2007). Genetic Heterogeneity of Atopic Dermatitis Many inflammatory diseases, such as atopic eczema, are genetically complex, with multiple alleles at several loci thought to be involved in their pathogenesis. Several susceptibility loci for atopic dermatitis have been identified: ATOD1 on chromosome 3q21, ATOD2 (605803) on chromosome 1q21, ATOD3 (605804) on chromosome 20p, ATOD4 (605805) on chromosome 17q25.3, ATOD5 (603165) on chromosome 13q12-q14, ATOD6 (605845) on chromosome 5q31-q33, ATOD7 (613064) on chromosome 11q13.5, ATOD8 (613518) on chromosome 4q22.1, and ATOD9 (613519) on chromosome 3p24.
Eczematous rash
MedGen UID:
3968
Concept ID:
C0013595
Disease or Syndrome
Eczema is a term for several different types of skin swelling. Eczema is also called dermatitis. It is not dangerous, but most types cause red, swollen and itchy skin. Factors that can cause eczema include other diseases, irritating substances, allergies and your genetic makeup. Eczema is not contagious. The most common type of eczema is atopic dermatitis. It is an allergic condition that makes your skin dry and itchy. It is most common in babies and children. Eczema is a chronic disease. You can prevent some types of eczema by avoiding irritants, stress, and the things you are allergic to.
Hyphidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Hypotrichosis
MedGen UID:
6993
Concept ID:
C0020678
Finding
Congenital lack of hair growth.
Thick hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Increased density of hairs, i.e., and elevated number of hairs per unit area.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFollicular atrophoderma and basal cell epitheliomata
Follow this link to review classifications for Follicular atrophoderma and basal cell epitheliomata in Orphanet.

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