Bazex-dupré-christol syndromeQ82.8
Synonym(s)
HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Rare (currently about 20 families have been described worldwide) X-linked chromosomal dominant syndrome with generalized hypotrichosis since birth, diffuse alopecia mainly of the parietal and temporal region, atrophodermia vermiculata with emphasis on the back of the hand and foot and early development of multiple basal cell carcinomas. Rarer are facial hyperpigmentations and trichoepitheliomas. Possibly hypohidrosis to anhidrosis. S.a.u. Rombo syndrome.
Very rarely signs of atopic diathesis, keratosis pilaris, ichthyosis, arachnodactyly, osteochondritis, hearing loss and learning problems are found.
EtiopathogenesisThis section has been translated automatically.
Mutations in the ACTRT1 gene (Bal E et al. 2017), which encodes actin-related protein T1 (ARP-T1), have been described in 2 of 6 affected families. ARP-T1 binds directly to the GLI1 promoter, suppressing GLI1 expression. This leads to an activation of the Hedgehog pathway (see also basal cell nevus syndrome).
ManifestationThis section has been translated automatically.
Milia: Infancy or in the neonatal period. Basal cell carcinoma occurs in 40% of patients between the second and third decade of life.
LocalizationThis section has been translated automatically.
Hypotrichosis affects the head and sometimes the eyebrows.
Milia occur mainly in the face.
Basal cell carcinomas occur mainly in the face.
Clinical featuresThis section has been translated automatically.
Hypotrichosis, hypohidrosis, milia and early manifesting basal cell carcinomas. Often there is follicular atrophodermia (especially on the backs of the hands and feet, on the extensor sides of the elbows and knees and on the face). Other characteristics of the syndrome are basal cell hamartomas and trichoepitheliomas.
Very rarely signs of atopic diathesis, keratosis pilaris, ichthyosis, arachnodactyly, osteochondritis, hearing loss and learning difficulties are found.
LiteratureThis section has been translated automatically.
- Bal E et al. (2017) Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of
- Hedgehog signaling in inherited and sporadic basal cell carcinomas. Nat Med 23:1226-1233.
- Bazex A, Dupré A, Christol B (1966) Atrophoderma folliculaire, proliférations baso-cellulaires et hypotrichosis. Ann Dermatol Syphiligr (Paris) 93: 241-254.
- Buxtorf K et al (2001) Bazex syndrome. Dermatology 202: 350-352
- Gill D et al (2001) Bullous lesions in Bazex syndrome and successful treatment with oral psoralen phototherapy. Australas J Dermatol 42: 278-280
- Plosila M, Kiistala R, Niemi KM (1981) The Bazex syndrome: follicular atrophoderma with multiple basal cell carcinoma, hypotrichosis and hypohidrosis. Clin Exp Dermatol 6: 31-41