Adams-Oliver Syndrome (AOS)

Very rare inherited disorder characterized by defects of the scalp associated with multiple scarred and hairless areas that usually have dilated blood vessel directly under the skin. Scalp defects are present at birth. The extremities are either short (hypoplastic fingers and toes) or characterized by absent hands and lower legs. Congenital heart defect must be ruled out.

Congenital Scalp Defects with Distal Limb Reduction Anomalies; Absence Defect of Limbs, Scalp, and Skull.

Described in 1945 by Forrest H. Adams and C.P. Oliver, both American physicians.

Rare congenital abnormality. Approximately 100 cases have been described. Both sexes are equally affected.

In most families, the disorder clearly follows an autosomal dominant pattern of inheritance, but in some families the penetrance is reduced. No genetic background information or molecular data concerning the Adams-Oliver syndrome are available.

The pathophysiologic mechanism remains unknown, but a vascular pathogenesis with interruption of early embryonic blood supply to the subclavian arteries has been discussed.

The diagnosis is made clinically with findings of a scalp defect combined with distal limb anomalies.

For some researchers, this syndrome represents one of many forms of Aplasia Cutis Congenita. The congenital midline scalp defect often is solitary and associated with an underlying skull defect and dilated scalp veins converging to the skin defect. Typically, these lesions appear as small ulcerations that may heal spontaneously. Larger lesion may require surgery with skin grafting and often are associated with an underlying bone defect. In a small number of patients, these defects have resulted in death secondary to infection (fatal meningitis) or hemorrhage from the sagittal sinus. However, the clinical expression of this syndrome is highly variable. The defect of the cranium usually is not associated with nervous system abnormalities. Intellectual development seems normal. However, hydrocephalus, microcephaly, seizure disorder, and mental retardation have been reported in a few patients. Limb reduction anomalies (found in 80% of patients) are most commonly characterized by hypoplastic or absent distal phalanges and in some cases absence of the lower leg below the midcalf level. On the upper limb, the metacarpals or the fingers may be completely absent or the terminal phalanges of the fingers are hypoplastic. Other anomalies may include congenital heart defects (present in up to 13% of patients, e.g., tetralogy of Fallot, pulmonary atresia, double-outlet right ventricle, pulmonary vein stenosis, atrial septal defect), cerebral arteriovenous malformations, encephalocele, microphthalmia, cleft lip/palate, cutis marmorata telangiectatica congenita, Epidermolysis Bullosa, thin and hyperpigmented skin, woolly hair, and supernumerary nipples. Bronchial and renal anomalies and portal hypertension have been described in a small number of patients.

In neonates, look carefully for associated abnormalities. Cardiac malformations should be excluded by echocardiography. The anesthesiologist must be aware of the possible association with Epidermolysis Bullosa. Look for possible complications of large or multiple scalp defects, such as infection (meningitis) or hemorrhage. Obtain complete blood count, electrolytes, creatinine, and BUN. Appropriate blood products must be available during surgical closure of large defects.

The main anesthetic consideration in these children is the association with congenital heart defects. Pulmonary hypertension without anatomical cardiac defects has been described. Placement of venous access and degree of invasive monitoring are determined by the extent of the planned surgery, expected blood loss, and associated anomalies (cardiac defects, pulmonary and portal hypertension).

No pharmacological data on Adams-Oliver syndrome are available. In the presence of cardiac defects, subacute bacterial endocarditis prophylaxis may be required. In patients with renal anomalies or portal hypertension, the dosage and dosage interval for drugs with predominantly renal and hepatic elimination, respectively, may require adjustment.

Poland Syndrome: Autosomal dominant, dextrocardia, hypoplasia or absence of the pectoralis muscle, hypoplastic ribs, hemivertebrae, unilateral syndactyly, hypoplastic muscles (e.g. serratus anterior, infraspinatus, deltoid). All features are unilateral and occur mostly (75%) on the right side. Males are affected three times more often than females.

Aplasia Cutis Congenita: Macrocephaly, large, high forehead, unilateral facial palsy, mental retardation, congenital heart defect (e.g., ventricular septal defect, tetralogy of Fallot, valvular pulmonary stenosis), Autosomal dominant inheritance.

Setleis Syndrome: Puckered periorbital skin, absent or multiple rows of eyelashes.

Johanson-Blizzard Syndrome (JBS): Polymalformative syndrome characterized by nasal alar hypoplasia (beak-shaped), scalp defects, hypothyroidism, pancreatic achylia, and congenital deafness.

Goltz Syndrome: Complex mesoectodermal hereditary disorder characterized by focal dermal atrophy with herniation of fat producing multiple papillomas, in association with skeletal, dental, ocular, and other anomalies.

Streeter Anomaly: Constricting amniotic bands leading to amputation with scarring, distal syndactyly, cleft lip/palate, anencephaly, encephalocele, hydrocephaly, omphalocele, and gastroschisis. Other internal anomalies involve the heart, lungs, diaphragm, kidneys, and gonads.

Delleman Oorthuys Syndrome: Multiple congenital anomaly syndrome mainly affecting the central nervous system, eyes, and skin.