What are the other Names for this Condition? (Also known as/Synonyms)

• BDCS (Bazex-Dupré-Christol Syndrome)
• Bazex Syndrome (BZX)
• Follicular Atrophoderma-Basocellular Proliferations-Hypotrichosis Syndrome

What is Bazex-Dupre-Christol Syndrome? (Definition/Background Information)

• Bazex-Dupré-Christol Syndrome (BDCS) is a rare genodermatosis with a predisposition to early-onset basal cell carcinomas. The disorder manifests during the neonatal period or during infancy
• So far, 143 cases have been reported, mostly from France and Belgium
• It is characterized by hypotrichosis, hypohidrosis, milia and basal cell carcinomas of early onset
• Bazex-Dupre-Christol Syndrome 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 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

(Source: Bazex-Dupré-Christol Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Bazex-Dupre-Christol Syndrome? (Age and Sex Distribution)

• Bazex-Dupre-Christol Syndrome is a very rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected. However, a majority of cases have been reported from the European nations of France and Belgium

What are the Risk Factors for Bazex-Dupre-Christol Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Bazex-Dupre-Christol Syndrome can be inherited
• Currently, no other risk factors have been clearly identified for BDCS

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Bazex-Dupre-Christol Syndrome? (Etiology)

• 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 transmission of Bazex-Dupre-Christol Syndrome is X-linked dominant

(Source: Bazex-Dupré-Christol Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

What are the Signs and Symptoms of Bazex-Dupre-Christol Syndrome?

The signs and symptoms of Bazex-Dupre-Christol Syndrome may include:

• Abnormality of the mouth
• Hyperpigmentation of the skin
• Hypohidrosis
• Hypotrichosis
• Infantile onset
• Joint hypermobility
• Low hanging columella
• Narrow nasal ridge
• Nevus
• Underdeveloped nasal alae

Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases: Coarse hair

Frequently present symptoms in 30-79% of the cases:

• Basal cell carcinoma
• Hypotrichosis of the scalp 
• Milia
• Pili torti 
• Sparse and thin eyebrow 
• Sparse hair 
• Sparse or absent eyelashes
• Subcutaneous nodule 
• Trichorrhexis nodosa 

Occasionally present symptoms in 5-29% of the cases:

• Abnormality of finger 
• Abnormality of the clavicle 
• Acne inversa 
• Eczema 
• Exostoses
• Hypoplasia of the ear cartilage
• Macrotia
• Trichoepithelioma

(Source: Bazex-Dupre-Christol Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Bazex-Dupre-Christol Syndrome Diagnosed?

Bazex-Dupre-Christol Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Bazex-Dupre-Christol Syndrome?

The complications of Bazex-Dupre-Christol Syndrome may include:

• Development of basal cell carcinoma
• Severe emotional stress

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Bazex-Dupre-Christol Syndrome Treated?

• Management of Bazex-Dupre-Christol Syndrome 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

(Source: Bazex-Dupre-Christol Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How can Bazex-Dupre-Christol Syndrome be Prevented?

Currently, Bazex-Dupre-Christol Syndrome may not be preventable, since it is a genetic disorder.

• Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
• If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Bazex-Dupre-Christol Syndrome? (Outcomes/Resolutions)

• The prognosis of Bazex-Dupre-Christol Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Bazex-Dupre-Christol Syndrome:

Bazex-Dupre-Christol Syndrome is also known by the following terms:

• Follicular Atrophoderma and Basal Cell Carcinomas
• Follicular Atrophoderma-Basal Cell Carcinoma Syndrome

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/