Bazex–Dupré–Christol syndrome

Overview

Bazex–Dupré–Christol syndrome (BDCS) is a rare, inherited skin disorder characterized by a triad of features: follicular atrophoderma(pitted or atrophic skin over the extremities),hypotrichosis(sparse or absent hair), and multiple basal cell carcinomas(skin cancers) that develop at an unusually young age. First described in the 1960s, BDCS primarily affects males and is classified as a genodermatosis, an inherited skin condition. This syndrome is notable for its early onset of skin cancers, often beginning in adolescence or early adulthood.

Causes

Bazex–Dupré–Christol syndrome is caused by mutations in theACTRT1 gene, which is located on the X chromosome and involved in regulating the Hedgehog signaling pathway, a critical process for skin and hair development.

• The condition follows an X-linked dominant inheritance pattern.

• Males typically present with more severe symptoms because they have only one X chromosome.

• Females may carry the mutation and show mild or no symptoms due to X-chromosome inactivation.

Symptoms

The clinical presentation of BDCS usually becomes apparent in childhood and worsens over time:

• Follicular atrophoderma – small, depressed skin lesions over the cheeks, arms, or thighs

• Hypotrichosis – sparse scalp hair, eyelashes, and eyebrows from an early age

• Multiple basal cell carcinomas (BCCs) – occurring early in life, especially on sun-exposed areas of the face and scalp

• Facial milia – tiny white bumps caused by keratin trapped under the skin

• Photosensitivity – increased sensitivity to sunlight in some cases

Diagnosis

Diagnosis of Bazex–Dupré–Christol syndrome is based on clinical signs, family history, and genetic testing:

• Physical examination – observing characteristic skin and hair findings

• Dermatologic history – especially the early appearance of basal cell carcinomas

• Skin biopsy – may confirm basal cell carcinoma or follicular atrophoderma

• Genetic testing – to identify mutations in the ACTRT1 gene

• Family history – especially maternal transmission to sons

Treatment

There is no cure for BDCS, and treatment focuses on managing symptoms and preventing skin cancer progression:

• Regular dermatologic surveillance – to detect and treat basal cell carcinomas early

• Surgical excision or laser therapy for removing basal cell carcinomas

• Topical or oral retinoids – may reduce the number of new BCCs in some patients

• Sun protection – critical to prevent skin damage and new cancer development

• Cosmetic treatments – for milia or atrophic skin lesions

• Genetic counseling – recommended for affected families

Prognosis

The prognosis of Bazex–Dupré–Christol syndrome is generally favorable with proper medical care:

• Life expectancy is normal in most cases if basal cell carcinomas are regularly managed.

• Quality of life may be affected by the cosmetic and psychological burden of skin and hair abnormalities.

• Early detection and treatment of skin cancers significantly improve outcomes.