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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, 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.
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

Malignant Skin Neoplasm
MedGen UID:
40101
Concept ID:
C0007114
Neoplastic Process
Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. . Anyone can get skin cancer, but it is more common in people who . - Spend a lot of time in the sun or have been sunburned. - Have light-colored skin, hair and eyes. - Have a family member with skin cancer. - Are over age 50. You should have your doctor check any suspicious skin markings and any changes in the way your skin looks. Treatment is more likely to work well when cancer is found early. If not treated, some types of skin cancer cells can spread to other tissues and organs. Treatments include surgery, radiation therapy, chemotherapy, photodynamic therapy (PDT), and biologic therapy. PDT uses a drug and a type of laser light to kill cancer cells. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute.
Skin Basal Cell Carcinoma
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)
Exostoses
MedGen UID:
257035
Concept ID:
C1442903
Pathologic Function
An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage.
Abnormality of finger
MedGen UID:
436247
Concept ID:
C2674737
Finding
An anomaly of a finger.
Macrotia
MedGen UID:
488785
Concept ID:
C0152421
Congenital Abnormality
Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Hypoplasia of the ear cartilage
MedGen UID:
867600
Concept ID:
C4021986
Finding
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.
Exostoses
MedGen UID:
257035
Concept ID:
C1442903
Pathologic Function
An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The ability of a joint to move beyond its normal range of motion.
Abnormality of finger
MedGen UID:
436247
Concept ID:
C2674737
Finding
An anomaly of a finger.
Abnormality of the clavicle
MedGen UID:
867420
Concept ID:
C4021792
Anatomical Abnormality
Any abnormality of the clavicles (collar bones).
Abnormality of the mouth
MedGen UID:
6447
Concept ID:
C0026633
Congenital Abnormality
An abnormality of the mouth.
Thin hypoplastic alae nasi
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.
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Absence or underdevelopment of the eyebrow.
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Malignant Skin Neoplasm
MedGen UID:
40101
Concept ID:
C0007114
Neoplastic Process
Skin cancer is the most common form of cancer in the United States. The two most common types are basal cell cancer and squamous cell cancer. They usually form on the head, face, neck, hands, and arms. Another type of skin cancer, melanoma, is more dangerous but less common. . Anyone can get skin cancer, but it is more common in people who . - Spend a lot of time in the sun or have been sunburned. - Have light-colored skin, hair and eyes. - Have a family member with skin cancer. - Are over age 50. You should have your doctor check any suspicious skin markings and any changes in the way your skin looks. Treatment is more likely to work well when cancer is found early. If not treated, some types of skin cancer cells can spread to other tissues and organs. Treatments include surgery, radiation therapy, chemotherapy, photodynamic therapy (PDT), and biologic therapy. PDT uses a drug and a type of laser light to kill cancer cells. Biologic therapy boosts your body's own ability to fight cancer. NIH: National Cancer Institute.
Skin Basal Cell Carcinoma
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.
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
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.
Thick hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Hair shafts are rough in texture.
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.
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
341300
Concept ID:
C1848765
Finding
Absence or underdevelopment of the eyebrow.
Abnormality of the eyelashes
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.
Abnormal hair quantity
MedGen UID:
868983
Concept ID:
C4023397
Anatomical Abnormality
An abnormal amount of hair.

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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