Bazex-Dupré-Christol syndrome

What is Bazex-Dupré-Christol syndrome?

Bazex-Dupré-Christol syndrome is also known as 'Bazex syndrome' and 'follicular atrophoderma-basal cell carcinoma'.

Acrokeratosis neoplasia is also known by the name 'Bazex syndrome' but this is an unrelated rare paraneoplastic syndrome. And the term follicular atrophoderma is incorrect as it infers thinning of the follicular skin, which is not found in Bazex syndrome. Instead, the follicles are widened and inflamed.

What is Bazex-Dupré-Christol syndrome?

Bazex-Dupré-Christol syndrome is a rare X-linked dominant inherited disorder of the hair follicle characterised by:

• Follicular atrophoderma (the breakdown of follicles on the skin) of the extremities
• Multiple basal cell carcinomas of the face
• Milia
• Localised or generalised hypohidrosis (diminished sweating)
• Hypotrichosis (reduced body and scalp hair).

What are the signs and symptoms of Bazex-Dupré-Christol syndrome?

Widened hair follicles are present at birth or in early childhood in children with Bazex-Dupré-Christol syndrome. They appear as "ice-pick marks", most commonly found on the upper surface of the hands, elbows, feet and face. Anhidrosis (inability to sweat) of the face and head may also occur.

In adulthood, around 20-30 years old, basal cell carcinomas begin to appear on the face. These are similar to the tumours of Gorlin syndrome. However, patients with Bazex-Dupré-Christol do not have the skeletal abnormalities, plantar pits or other features of Gorlin syndrome.

Apart from the presence of multiple basal cell carcinomas, the other symptoms of Bazex syndrome are inconsistent and vary between patients. A study of 20 patients from one family spanning across four generations show that the males of the family have uniformly severe disease, whereas the females show a range of severity of the syndrome. The most striking difference found is males have diffuse hypotrichosis that affects all scalp hairs, whilst females show little or no hypotrichosis.

How is the diagnosis of Bazex-Dupré-Christol made?

Bazex-Dupré-Christol syndrome should be considered as a differential diagnosis in patients with early-onset or familial basal cell carcinomas.

What is the treatment for Bazex-Dupré-Christol syndrome?

All patients with Bazex-Dupré-Christol syndrome should see a dermatologist for regular skin examinations so that basal cell carcinomas can be treated when they are small. This may require surgery or one of the many other treatments available for these tumours including cryotherapy, photodynamic therapy, fluorouracil cream and imiquimod cream. They should not receive treatment with irradiation as this is liable to provoke the development of more tumours.

Some patients with Bazex-Dupré-Christol may require long-term treatment with oral retinoids such as isotretinoin or acitretin.

Sun protection is vital to reduce the number of skin cancers developing but even complete protection will not prevent all basal cell carcinomas in patients with Bazex-Dupre-Christol syndrome.