Bazex-Dupre-Christol syndrome

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.

So far, 143 cases have been reported, mostly from France and Belgium.

The disease manifests during the neonatal period or during infancy. It is characterized by hypotrichosis, hypohidrosis, milia and basal cell carcinomas of early onset. Follicular atrophoderma is frequent and most common on the dorsum of the hands and feet, the extensor surfaces of the elbows and knees, and the face. Hypotrichosis affects the scalp and sometimes the eyebrows. The milia papules and basal cell carcinomas are located predominantly on the face. Basal cell carcinomas develop in 40% of patients, usually during the 2nd or 3rd decade of life. Additional common features include basal cell hamartomas, trichoepitheliomas and, in very rare cases, atopy, keratosis pilaris, ichthyosis, arachnodactyly with joint hyperlaxity, osteochondritis, deafness and learning difficulties.

The gene has been mapped to the long arm of the X chromosome, within the Xq24-q27.1 region. UBE2A (Xq24), encoding a protein involved in repair of UV-damaged DNA, has been proposed as a candidate gene.

The differential diagnosis should include Gorlin syndrome, which also leads to multiple basal cell carcinomas of early onset, and X-linked dominant chondrodysplasia punctata (see these terms) in which follicular atrophoderma may also be observed. Rombo syndrome and generalized basaloid follicular hamartoma syndrome (see these terms) should also be included in the differential diagnosis.

Transmission is X-linked dominant.

Management involves photoprotection and early detection of basal cell carcinomas. Surgical intervention, and sometimes cryosurgery or topical imiquimod, are indicated for basal cell carcinomas. Radiotherapy is contraindicated.

Visit the Orphanet disease page for more resources.

Last updated: 10/1/2008

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