Grains de milium diffus chez un nourrisson révélateurs d’un syndrome de Bazex, Dupré et Christol

Abstract

We report two cases of Bazex-Dupré-Christol syndrome in a father and daughter with divergent clinical pictures at two different ages. A 6-month-old infant was seen with her parents for profuse milia which had appeared when she was 2 months old and persisted ever since. The remainder of the dermatological examination and the psychomotor development tests were normal. Dermatological examination of the father showed atrophic cutaneous lesions with follicular punctuated depressions (like "ice-pick marks") on the back of the hands and the forearms. He also presented diffuse hypotrichosis and hypohydrosis. In addition, he had a history of basal cell carcinoma with surgery before the age of 35 years. Finally, questioning revealed the existence of numerous similar cases in the family. In view of all these factors, a diagnosis of Bazex-Dupré-Christol syndrome was made. Bazex-Dupré-Christol syndrome is a genodermatosis with X-linked dominant inheritance. Diagnosis is based on association of follicular atrophoderma, congenital hypotrichosis, hypohydrosis and early basal cell carcinoma. Other than fragile skin and cosmetic blemishes, these tumors are the only complication of the disease and require regular dermatological surveillance and solar protection. Common initial signs of the disease are abnormally profuse milia in neonates that tend to persist throughout childhood. Several differential diagnoses may be evoked.