Sternal malformation/vascular dysplasia association

Abstract

Sternal defects associated with superficial craniofacial vascular lesions are rare. We report on two additional patients with a sternal cleft and cutaneous, craniofacial hemangiomata to emphasize that this unusual combination of findings represents a recognizable sternal malformation/vascular dysplasia association. In addition, internal vascular lesions were also identified in these individuals, in one instance involving the upper respiratory tract and in the other the viscera. Although the pathogenesis of these findings is unclear, an early disturbance affecting midline mesodermal structures leading to lack of complete fusion of lateral sternal bands and overlying cutaneous tissue, or deficient formation of a proposed medioventral unpaired structure which may be involved in the formation of the sternum, and persistence and proliferation of midline angioblastic tissue may be possible mechanisms during the sixth to ninth gestational weeks. To date, all but one of the 15 known cases have been sporadic and no teratogen has been identified as a cause for these clinical manifestations. The presence of this association should signal the need to search for potentially life-threatening internal hemangiomata.

Association of Solitary, Segmental Hemangiomas of the Skin With Visceral Hemangiomatosis

“…The first patient received supportive care alone and died of sepsis and massive cerebral edema 7 ; the second had PHACE(S) syndrome and arterial anomalies that included aortic coarctation and died despite aortic and intestinal surgery 17 ; the third died of massive gastrointestinal bleeding despite intravenous treatment with steroids and interferon 21 ; and the fourth died of massive gastrointestinal bleeding and seizures. 15 Three of the 12 deaths were the result of congestive heart failure secondary to hepatic involvement despite treatment with corticosteroids in 1 patient 9 and embolization, liver irradiation, and corticosteroid treatment in the other 2.…”

PHACES Association: A Neuroradiologic Review of 17 Patients

“…Additionally, patients are often misdiagnosed as having other phakomatoses, such as Sturge-Weber syndrome. The etiology of PHACES remains ambiguous but may represent a field defect due to an insult in early embryonic development 9 The hallmark of PHACES is a segmental hemangioma, usually facial. There is commonly incomplete phenotypic expression, with 70% of children having only 1 extracutaneous manifestation.…”

Pterygium colli medianum and midline cervical cleft: Midline anomalies in the sense of a developmental field defect

“…Usually it is associated with a midline cervical cleft. These clefts extend from beneath the chin to the suprasternal region or, very rarely, to the anterior trunk wall [Hersh et al, 1985;Kaplan et al, 1985;Szenes, 1922;Warkany, 19711 (see Fig. 3: with sternal cieft).…”

“…1980; Pirsig and Pirsig, 1972;Wood and Deister, 1983;Wynn-Williams, 19521; however, there seem to exist hardly any descriptions in the pediatric literature [Godbersen and Wiedemann, 1984;Sánchez López Tello and Müller, 19731 and only few relevant articles in the genetic literature [Hersh et al, 1985;Kaplan et al, 1985;Opitz, 19851. We cal1 further attention to these midline anomalies.…”