Bazex syndrome

Bazex‑Dupré‑Christol syndrome (also known as Bazex syndrome) is a very rare disorder. It is a hereditary condition with X‑linked dominant inheritance, which means that its manifestation differs depending on which parent carries the mutated gene. If the disorder is inherited from the father who carries the defective gene, daughters have a 100% risk of developing the syndrome, while sons are unaffected. Conversely, if the mother carries the mutated gene, the child has a 50% chance of being affected.

The syndrome is associated with follicular atrophoderma, basal cell carcinoma (a malignant skin tumor arising from basal cells, typically occurring on the face with a low risk of metastasis), hypotrichosis (reduced hair growth), and hypohidrosis (reduced sweating). This condition should not be confused with acrokeratosis paraneoplastica, which may present with very similar clinical features.

Diagnosis

Diagnosis is very difficult, and the condition is often recognized late, usually only when carcinoma develops in the facial area. Therefore, emphasis should be placed on prevention and regular dermatological examinations, especially if the disorder has occurred in the family.

Treatment

Treatment consists primarily of managing the tumor. This may include surgical excision or cryotherapy (freezing). Some patients may require long‑term treatment with oral retinoids (vitamin A derivatives). Preventive protection against sun exposure is also important.

• príznaky sa najčastejšie nachádzajú na hornej ploche rúk, lakťoch, nôh a tvári
• rozšírenie vlasových folikulov
• zanietenie vlasových folikulov
• bazalióm - karcinóm bazálnych buniek kože v oblasti tváre
• mílie (drobné mastné hrbolčeky na koži)
• lokalizovaná alebo generalizovaná hypohidrosis (nepotenie sa)
• hypotrichosis (zníženie počtu vlasov a ochlpenia)