Bazex-Dupre-Christol Syndrome

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Classification according to ICD-10
L98.8 Other specified diseases of the skin and subcutaneous tissue
ICD-10 online (WHO version 2019)

The Bazex-Dupre-Christol syndrome (actually Bazex-Dupré-Christol syndrome) is a very rare congenital genodermatosis (skin disease) with the characteristics of follicular atrophoderma, sparse hair, reduced sweat secretion and a tendency to basal cell carcinoma .

Synonyms are: BAZEX-DUPRE-CHRISTOL SYNDROME; BDCS; FOLLICULAR ATROPHODERMA AND BASAL CELL CARCINOMAS; BAZEX SYNDROME; BZX

The name refers to the authors of the first description from 1964 by the French dermatologist André Bazex (1911-1944), the French dermatologist André Dupré and B. Christol .

The syndrome should not be confused with Bazex syndrome , a paraneoplastic acrokeratosis.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is X-linked dominant .

root cause

The disease is probably based on mutations in the UBE2A gene at the locus Xq24-q27, which is required for the repair of UV-damaged deoxyribonucleic acid .

Clinical manifestations

Clinical criteria are:

  • Manifestation shortly after birth or in infancy
  • Hypotrichosis (head and eyebrows)
  • Hypohidrosis
  • Predisposition to basal cell carcinoma, mostly of the face
  • follicular atrophoderm on the back of the hands and feet, elbows, knees and face

Differential diagnosis

The following are to be distinguished:

therapy

Treatment includes sun protection and regular searches for basal cell carcinoma.

literature

  • G. Beljan, D. Metze: Milia and follicular atrophodermia as early signs of a Bazex-Dupré-Christol syndrome. In: Journal of the German Dermatological Society . Volume 2, No. 7, 2004, pp. 602-604, PMID 16281625 .
  • A. Herges, W. Stieler, R. Stadler: [Bazex-Dupré-Christol syndrome. Follicular atrophoderma, multiple basal cell carcinomas and hypotrichosis]. In: The dermatologist ; Journal of Dermatology, Venereology, and Allied Fields. Vol. 44, No. 6, 1993, pp. 385-391, PMID 8335462 (review).

Individual evidence

  1. ↑ a b c d e Bazex-Dupre-Christol syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ Who named it
  3. ↑ A. Bazex, A. Dupre, B. Christol: Genodermatose complexe de type indetermine associant une hypotrichose, un etat atrophodermique generalize et des degenerescences cutanees multiples (epitheliomas-basocellulaires). In: Bulletin de la Société française de dermatologie et de syphiligraphie , Vol. 71, 1964, p. 206.
  4. ↑ Bazex syndrome.  In: Online Mendelian Inheritance in Man . (English)

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