LAUSR

After centuries of fog in which the only certainty was that birthmarks were not the result of maternal desires at conception or during pregnancy, Mulliken and Glowacki’s work in 1982 shed light on the world of vascular anomalies whereby haemangiomas are true postnatal neoplasms of the endothelium (= vascular tumours), while vascular malformations are structural defects occurring in the morphogenesis of the embryo. Of course, it remained (and remains) to be known what the causes of these diseases were, but, at least conceptually, a huge step forward had been made. Unfortunately (but thankfully for science!), this peaceful landscape changed dramatically in 1996, when Ilona Frieden described the PHACE syndrome in which vascular tumours and vascular malformations are present to varying degrees in some children, thus, shaking the two pillars that supported Mulliken’s intellectual construct. Although, to tell the truth, the first publication to break the dichotomy mentioned above was that of a Spanish neurologist, Ignacio PascualCastroviejo, almost 20 years earlier. After 25 years, reports of cases of PHACE syndrome have multiplied and the list of associated malformations is getting longer and longer and includes both organs originating from the ectoderm (such as the cerebellum) and endoderm (such as the thyroid) and not only from the mesoderm, which is the embryonic tissue from which the vessels originate. The auditory deficit as a defect that develops after some time is interesting and deserves further study and consideration. The hearing deficit could arise following the development of the haemangioma and could be a consequence of damage from compression of the acoustic nerve and/or from an anomaly in the local microcirculation. If so, it would be essential to activate early therapy with b-blocker in all those cases involving area S3. Or, although less probable, one can still think (as the story of the hearing deficit not present at birth but then highlighted) that the cause may have been the vasoconstriction induced by propranolol which may have caused a transient ischaemia, a short-term event but sufficient to damage the maturation of the organ in question. In general, the problem of anomalies that are not identified at birth but only subsequently is very complicated. It is possible to think that anomalies exist, but are too small to be detected at birth. Alternatively, anomalies may only become apparent when the organ has completed and matured (e.g. generative organs, etc.). Furthermore, the question of whether the structural abnormalities of the organs involved are primary or secondary to abnormal vascularization remains elusive. If it turned out that all anatomical anomalies were due to a vascular anomaly, the problem would be simplified somewhat, since the culprit would be the mesodermal abnormalities alone. This issue, like the observations made in the article by Letertre O. et al, helps to magnify the question mark that still characterizes PHACE after many years. Of no less importance is the question of the topographic correspondence of cutaneous angiomatous lesions with malformative or aplasic lesions in other organs and apparatuses. While the leading edge of research is trying to solve the complicated puzzle of the genes responsible for many vascular anomalies, a large part of the medical profession still ignores the fundamental work of Mulliken and Enjolras who had insisted so much (at least that!) on the use of correct terminology. In conclusion, we agree with the use of propranolol in all cases of PHACE since some of the potential risks of cutaneous localizations such as amblyopia ex non-usu in the case of eyelid localization or suffocation in the case of Beard-like haemangiomas are too dangerous and, therefore, an effective and rapid treatment cannot be postponed.