Kunze-Riehm Syndrome

A disorder characterized by dystrophic skin (deep circumferential creases), mental retardation, hypertrichosis, and, occasionally, congenital heart defects. Other features include cleft palate and neuroblastoma.

Michelin Tire Baby Syndrome; Multiple Benign Ring-Shaped Skin Creases of Limbs.

Approximately 25 cases have been reported in the literature.

Presumed autosomal dominant inheritance with variable penetrance and expression.

Unknown. Explanations for deep circumferential skin creases include diffuse underlying lipomatous nevus, underlying smooth muscle hamartoma, and a disorder of “elastic fiber” formation.

Primarily clinical. Biopsy to show the presence of a smooth muscle hamartoma has been suggested. Histologic examination to determine the presence of elastic fiber abnormalities has been proposed, whereas electronic microscopy may show decreased elastin deposition.

Primary features include deep circumferential skin creases on the forearms and sometimes neck and lower limbs. Gyrus-like creases may be seen on the back. The skin is loose and may seem thick. The creases resolve spontaneously during childhood, although remnants may be visible in adults. Numerous other congenital abnormalities have occurred in association with this disorder: cleft palate, congenital heart disease, localized neuroblastoma, craniofacial anomalies (micrognathia), inguinal and umbilical hernias, and psychomotor retardation.

The infant or young child presenting with deep skin creases should be investigated for associated anomalies. A full history and physical examination must be done to assess for cleft palate, congenital heart disease, and craniofacial abnormalities. Developmental delay may be present. Investigations should include hemoglobin level, electrocardiogram, chest radiograph, and echocardiogram if necessary. Workup for neuroblastoma would include urine and plasma catecholamine levels and imaging studies. Uncommonly, hypertension is present, which should be well controlled prior to anesthesia.

Potential for difficult airway management must be anticipated because of micrognathia and/or cleft palate. Difficult placement of intravenous, intraarterial, and central venous catheters is most probable because of deep folds of loose, thick skin. Considerations for congenital heart disease include knowledge of the anatomy and pathophysiology of the lesion and strict avoidance of air embolism. Fluctuations in blood pressure caused by release of catecholamines and/or blood loss can occur during manipulation of a neuroblastoma tumor. Careful padding for intraoperative positioning is required.

No specific pharmacological implications. In the presence of congenital heart defect, anesthetic drug implications are dictated by the cardiovascular pathophysiology. Subacute bacterial endocarditis prophylaxis must be considered in presence of a congenital heart defect.