Peripheral Vascular Anomalies Research Articles

Ichthyosis Hystrix (Epidermal Nevus Syndrome) and Coats' Disease

A 4-year-old girl had the ichthyosis hystrix variant of the epidermal nevus syndrome with ocular fundus manifestations of Coats' disease. Her hearing was impaired because of serous otitis media and her visual acuity decreased because of hard yellow exudate in the macula as a result of decompensation and plasma leakage from the peripheral retinal vascular anomalies. Treatment of the vascular malformations with cryotherapy resulted in a reabsorption of the retinal edema and hard yellow exudate.

Peripheral vascular anomalies associated with the supravalvular aortic stenosis syndrome.

Obstruction of the left ventricular outflow tract immediately above the aortic valve has, until recently, received scant attention. The term supravalvular aortic stenosis was first introduced in 1958 by Denie and Verheught (1). Since that time the number of cases reported in the literature has exceeded 60. There appear to be several reasons for the recent interest in this relatively uncommon anomaly. First, the increase in the number of cases reported may reflect a real increase in the incidence. Second, a precise diagnosis based upon the clinical hemodynamic and angiographic features can now be readily made. Third, surgical treatment is now attainable. Finally, the possible etiological relationship between the anomaly and the severe form of idiopathic infantile hypercalcemia has caused more active interest in this syndrome. Supravalvular aortic stenosis has been described in two groups of patients, one with mental retardation, dental anomalies, and abnormal facies, and another comprising familial cases with normal mental function and facies. A possible association between the first group and the severe form of idiopathic infantile hypercalcemia was recently suggested by Bonham Carter et al. (2). More recently, this has been confirmed by Garcia and his co-workers (3). The suggestion of an association between the two conditions has its origin in the report by Williams (8) who described four patients with similar facial appearance, mental retardation, dental malocclusion, and supravalvular aortic stenosis. Material Fifteen patients attending the Cardiac Clinic of the Children's Medical and Surgical Center, The Johns Hopkins Hospital, Baltimore, Md., with clinical symptoms of supravalvular aortic stenosis underwent complete clinical evaluation including cardiovascular, renal, and metabolic studies. On the basis of facial characteristics, the patients were divided into three groups (Fig. 1). The 5 patients in Group A were considered to have a classic face as described by Williams and others, i.e., a full and broad forehead, heavy cheeks, hypertelorism, and a pointed chin. Group B consisted of 4 patients with abnormal facies, whose characteristics were dissimilar to those of Group A. There was no resemblance between the two groups and their parents or siblings. In Group C there were 6 patients with normal facial characteristics. The mean I.Q. of Group A was 65, of Group B, 56, and of Group C, 105. Patients in Groups A and B had moderate to severe mental retardation. Although apparently normal mentally, patients in Group C had specific mental deficiencies similar to those found among patients in Groups A and B. Diagnostic cardiac catheterization and cine angiocardiography were performed in all patients. The diagnosis of supravalvular aortic stenosis was confirmed at operation in 2.

The Capillary System in Patients with Psychiatric Disorders

Peripheral circulatory anomalies are notoriously common in mentally ill patients; they exist at the levels of structure and function and both at rest and in dynamic settings under stress. Clinically, the puffy, raw-beef, violaceous hands of some schizophrenic patients contrast vividly with the white, baby-soft, transparent peripheral pallor of others. In other psychiatric disorders, Raynaud-like syndromes are seen, and dermatographism, all grades of cyanosis, excessive sweating, marbled appearance of the skin, and disordered temperature control are frequently noted on physical examination. Experimentally, the morphological study of the skin capillaries by capillary microscopy has indicated structural peculiarities of these vessels sufficiently obvious to differentiate psychiatric patients from those in mental health, while techniques of finger plethysmography, oximetry, skin resistance, electromyography, and skin thermometry applied to such patients afford physiological examples of similar methods of differentiation. Some of the literature on these peripheral vascular anomalies has been recently reviewed (Abramson, 1 1944;