Bazex-Dupre-Christol syndrome

Alternate names

BDCS; Bazex syndrome; BZX; Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome; Follicular atrophoderma-basal cell carcinoma syndrome; Follicular atrophoderma and basal cell carcinomas; Bazex-Dupré-Christol syndrome

Definition

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

Epidemiology

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

Inheritance

X-linked dominant inheritance

Transmission is X-linked dominant.

Signs and symptoms

• 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.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms

• Coarse hair(Coarse hair texture)

30%-79% of people have these symptoms

• Basal cell carcinoma
• [[Milia](Milk spot)
• Pili torti(Flattened and twisted hair)
• Sparse and thin eyebrow(Thin, sparse eyebrows)
• Sparse or absent eyelashes
• Sparse scalp hair(Reduced/lack of hair on scalp)
• Subcutaneous nodule(Firm lump under the skin)
• Trichorrhexis nodosa

5%-29% of people have these symptoms

• Abnormal clavicle morphology(Abnormal collarbone)
• Abnormality of finger(Abnormalities of the fingers)
• Acne inversa
• Eczema
• Exostoses(Formation of new noncancerous bone on top of existing bone)
• Hypoplasia of the ear cartilage(Underdeveloped ear cartilage)
• Macrotia(Large ears)
• Trichoepithelioma

Diagnosis

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

Treatment

• 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.

NIH genetic and rare disease info

• NIH info on Bazex-Dupre-Christol syndrome

Bazex-Dupre-Christol syndrome is a rare disease.

Bazex-Dupre-Christol syndrome Resources
Latest articles Most recent articles Ongoing trials	Wikipedia