Orthopaedic perspectives on CLOVES and Proteus syndrome - how to treat deformities related to overgrowth syndromes?

Objectives CLOVES syndrome (CS) and Proteus syndrome (PS) are extremely rare overgrowth syndromes which require an interdisciplinary and patient-specific treatment. Due to vascular anomalies and a possible hypertrophic tissue reaction, surgical interventions are generally avoided, but may become necessary in severe deformities with functional impairment. This study aims to identify orthopaedic deformities occurring in CS and PS which may require further orthopaedic treatment.

Methods Retrospective analysis of radiographs and clinical data of four boys with CS and three girls with PS presented to our hospital over a course of 13 years (2006 - 2019).

Results and Conclusion Patients were presented to our department at an average age of 9 (0 - 18) years. All patients were diagnosed clinically. All four patients with CS showed massive hypertrophy of both feet, of whom two received surgeries to reduce soft tissues and an ablation of one toe in order to facilitate appropriate fitting of footwear. One of three patients with PS showed hypertrophy of the right foot and also received surgery to reduce soft tissues. One of three patients with PS showed an osseous syndactyly of the left-side 2nd and 3rd toe. Two patients with CS presented valgus deformity of one knee joint, of whom one received growth guidance at the age of one year. All three patients with PS and two patients with CS showed leg length discrepancy of an average 4.65 (0.5 - 9) cm. A total epiphysiodesis of the contralateral distal femur and proximal tibia were performed in one CS-patient at age 12 years and in all PS-patients at the age of 9, 10 and 14 years, respectively. Two CS-patients showed hip dysplasia, of whom one was treated conservatively with a Tübingen orthosis. The other patient with bilateral hip dislocation (Tönnis grade III one the left and grade II on the right side) received an acetabuloplasty, open hip reduction and proximal femoral varus osteotomy on the left side at the age of 13 years. When the same procedure was attempted on the right side one year later, a severe hemorrhage due to vascular malformations occurring immediately after skin incision required the premature termination of the surgery. One PS- and one CS-patient showed mild thoracolumbar scoliosis, up to date not requiring further treatment.

Patients with overgrowth syndromes present a variety of musculoskeletal deformities. In severe deformities surgical interventions are justifiable, but especially patients with CS have an increased risk of severe blood loss due to vascular anomalies. A reactive soft tissue hypertrophy after surgery has not been observed in any of our patients with CS or PS.

12-year old boy with CLOVES syndrome.

Stichwörter CLOVES syndrome, Proteus syndrome, overgrowth syndromes

Publication History

Article published online:
15 October 2020