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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 inheritance
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 inheritance (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

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. Most types cause dry, itchy skin and rashes on the face, inside the elbows and behind the knees, and on the hands and feet. Scratching the skin can cause it to turn red, and to swell and itch even more. Eczema is not contagious. The cause is not known. It is likely caused by both genetic and environmental factors. Eczema may get better or worse over time, but it is often a long-lasting disease. People who have it may also develop hay fever and asthma. The most common type of eczema is atopic dermatitis. It is most common in babies and children but adults can have it too. As children who have atopic dermatitis grow older, this problem may get better or go away. But sometimes the skin may stay dry and get irritated easily. Treatments may include medicines, skin creams, light therapy, and good skin care. You can prevent some types of eczema by avoiding. -Things that irritate your skin, such as certain soaps, fabrics, and lotions. -Stress. -Things you are allergic to, such as food, pollen, and animals. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Abnormality of the mouth
MedGen UID:
6447
Concept ID:
C0026633
Congenital Abnormality
An abnormality of the mouth.
Underdeveloped nasal alae
MedGen UID:
322332
Concept ID:
C1834055
Finding
Thinned, deficient, or excessively arched ala nasi.
Narrow nasal ridge
MedGen UID:
373404
Concept ID:
C1837761
Finding
Decreased width of the nasal ridge.
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. Most types cause dry, itchy skin and rashes on the face, inside the elbows and behind the knees, and on the hands and feet. Scratching the skin can cause it to turn red, and to swell and itch even more. Eczema is not contagious. The cause is not known. It is likely caused by both genetic and environmental factors. Eczema may get better or worse over time, but it is often a long-lasting disease. People who have it may also develop hay fever and asthma. The most common type of eczema is atopic dermatitis. It is most common in babies and children but adults can have it too. As children who have atopic dermatitis grow older, this problem may get better or go away. But sometimes the skin may stay dry and get irritated easily. Treatments may include medicines, skin creams, light therapy, and good skin care. You can prevent some types of eczema by avoiding. -Things that irritate your skin, such as certain soaps, fabrics, and lotions. -Stress. -Things you are allergic to, such as food, pollen, and animals. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases.
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.
Nevus
MedGen UID:
45074
Concept ID:
C0027960
Neoplastic Process
Moles are growths on the skin. They happen when pigment cells in the skin, called melanocytes, grow in clusters. Moles are very common. Most people have between 10 and 40 moles. A person may develop new moles from time to time, usually until about age 40. In older people, they tend to fade away. Moles are usually pink, tan or brown. They can be flat or raised. They are usually round or oval and no larger than a pencil eraser. About one out of every ten people has at least one unusual (or atypical) mole that looks different from an ordinary mole. They are called dysplastic nevi. They may be more likely than ordinary moles to develop into melanoma, a type of skin cancer. You should have a health care professional check your moles if they look unusual, grow larger, change in color or outline, or in any other way. NIH: National Cancer Institute.
Hyperpigmentation of the skin
MedGen UID:
57992
Concept ID:
C0162834
Pathologic Function
A darkening of the skin related to an increase in melanin production and deposition.
Trichorrhexis nodosa
MedGen UID:
82668
Concept ID:
C0263485
Disease or Syndrome
Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair.
Pili torti
MedGen UID:
82670
Concept ID:
C0263491
Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Coarse hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Increased density of hairs, i.e., and elevated number of hairs per unit area.
Milia
MedGen UID:
87528
Concept ID:
C0345996
Anatomical Abnormality
Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin.

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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