Bazex-dupré-christol syndrome Q82.8

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 23.02.2021

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Synonym(s)

Bazex Dupre Christol syndrome; Bazex-Dupre-Christol Syndrome; Bazex Dupré Christol syndrome; Follicular atrophoderma and basal carcinomas; OMIM 301845

History
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Bazex, Dupré, Christol, 1966

Definition
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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.

Etiopathogenesis
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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).

Manifestation
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Milia: Infancy or in the neonatal period. Basal cell carcinoma occurs in 40% of patients between the second and third decade of life.

Localization
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Hypotrichosis affects the head and sometimes the eyebrows.

Milia occur mainly in the face.

Basal cell carcinomas occur mainly in the face.

Clinical features
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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.

Literature
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  1. Bal E et al (2017) Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation ofHedgehog
    signaling in inherited and sporadic basal cell carcinomas. Nat Med 23:1226-1233.
  2. Bazex A, Dupré A, Christol B (1966) Atrophodermia folliculaire, proliferations baso-cellulaires et hypotrichose. Ann Dermatol Syphiligr (Paris) 93: 241-254
  3. Buxtorf K et al (2001) Bazex syndrome. Dermatology 202: 350-352
  4. Gill D et al (2001) Bullous lesions in Bazex syndrome and successful treatment with oral psoral phototherapy. Australas J Dermatol 42: 278-280
  5. 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

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Last updated on: 23.02.2021