Bazex-Dupre-Christol syndrome
Alternate names[edit | edit source]
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[edit | edit source]
Bazex-Dupré-Christol syndrome is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas.
Epidemiology[edit | edit source]
So far, 143 cases have been reported, mostly from France and Belgium.
Inheritance[edit | edit source]
Transmission is X-linked dominant.
Signs and symptoms[edit | edit source]
- 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[edit | edit source]
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[edit | edit source]
- 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[edit | edit source]
- 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[edit source]
Bazex-Dupre-Christol syndrome is a rare disease.
Bazex-Dupre-Christol syndrome Resources | ||
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