Autosomal Recessive Epidermolysis Bullosa of the Albopapuloid Type

Dr. F. Prigent, Clinique des Maladies Cutanées et Syphilitiques, Hôpital Saint-Louis, 2, place du Dr. A.-Fournier, 75010 Paris (France) Dear Sir, We were very interested in the article by Ramelet and Boillat [1985] recently published in Dermatologica about 3 cases of epidermolysis bullosa of the albopapuloid type. The interest lies in inheritance, presumed to be autosomal recessive by Ramelet and Boillat [1985]. Autosomal recessive inheritance is suspected on a number of grounds [Thompson and Thompson, 1978]: the disease appears only in siblings, not in parents and not in descendants; statistically only a quarter of the siblings suffer from this disease; consanguinity augments the risk, and men and women are affected equally. The genealogy of the cases presented is obviously suggestive, most of all case N. 3, but it lacks certain elements to conform to autosomal recessive inheritance: because expressivity is sometimes variable, the clinical anomalies of the parents can be very reduced and therefore eleminate autosomal dominant inheritance (to our knowledge, expressivity of epidermolysis bullosa of albopapuloid type is not well explained); the proof of paternity is a precondition of any discussion concerning the mode of transmission [Salmon-Bonnerot, 1977]. These criteria cannot be established here; however, the hypothesis should be raised here on the grounds of strong suspicion. The same is true of the cases of Delacrétaz and Christeler [1966]. References Delacrétaz, J.; Christeler, A.L.: Epidermolyse bulleuse albopapuloïde. Dermatologica 755: 106108 (1966). Ramelet, A.A.; Boillat, C: Epidermolyse bulleuse dys-trophique albopapuloïde autosomique recessive. Dermatologica 171: 397-406 (1985). Salmon-Bonnerot, D: Aide au diagnostic de paternité à partir des marqueurs du polymorphisme géné-tique. Etude méthodologique. Application à l’ana-lyse d’un échantillon de families; these. Paris (1977). Thompson, J.S.; Thompson, M.W.: Precis de génétique médicale, p. 59 (Doin, Paris 1978). The comment of the authors concerned is as follows: The relevant remark of Dr. Prigent points out that paternity is not proved in our cases. We and our patients deeply regret the deaths of their parents, a loss that definitely robs us of this last scientific evidence. Out of deference to their memory we forego suspecting them of low moral standards. A.-A. Ramelet (Lausanne), C. Boillat (Berne), Clinique universitaire de Dermatologie, CHUV, 1011 Lausanne, Switzerland