Adams–Oliver syndrome, intestinal obstruction and heart defects: a case series of aplasia cutis congenita

Abstract

Aplasia cutis congenita (ACC) is a rare congenital defect described by the absence of skin and occasionally subcutaneous tissues or bone. The management of ACC varies depending on the lesion size, location and associated abnormalities. Small lesions often heal spontaneously, whereas larger lesions are significant and usually associated with additional anomalies in other organs. This paper reports three cases, which describe large lesions of ACC, presented with other abnormalities (Adams–Oliver syndrome, intestinal obstruction and heart defect). Particular attention should be paid to the patient with large lesions of ACC to investigate more congenital anomalies.

Adams–Oliver syndrome: About a case

“…3 The anomalies observed are left-sided obstructive heart disease, interventricular or interatrial communications, pulmonary arterial hypertension, and pulmonary venous stenosis. 4,15 In our case, no congenital heart disease was identified on cardiac ultrasound. Central nervous system malformations occur with a frequency of 30% and can also determine prognosis.…”

“…Cardiac malformations occur at a frequency of 23% and can account for the full severity of the disease 3 . The anomalies observed are left‐sided obstructive heart disease, interventricular or interatrial communications, pulmonary arterial hypertension, and pulmonary venous stenosis 4,15 . In our case, no congenital heart disease was identified on cardiac ultrasound.…”

“…It most often affects the vertex in the parietal region, and more rarely the abdomen and limbs. In 64% of patients with vertex involvement, a bony defect of the underlying skull is found 4,10,14 . The specific etiologies of ACC are not elucidated, but chromosomal abnormalities, particularly BMS1, intrauterine infections, and teratogenic agents during pregnancy are possible causes 4 .…”

“…The lesions of ACC are generally located on the midline of the parietal or occipital regions, where they may be associated with a parietal bone defect, but may also appear on the abdomen or limbs 1–3 . First described by Adams and Oliver in 1945, this syndrome also presents severe forms of expression, including central nervous system anomalies, cardiovascular disease, and gastrointestinal malformations 1,4–6 . Several modes of transmission have been described: autosomal dominant, autosomal recessive, and sporadic mutations 7–9 .…”

“…[1][2][3] First described by Adams and Oliver in 1945, this syndrome also presents severe forms of expression, including central nervous system anomalies, cardiovascular disease, and gastrointestinal malformations. 1,[4][5][6]…”