Unique Case of Congenital Lipomatous Overgrowth With Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal Anomalies Syndrome in a Pediatric Patient

Abstract

Vascular malformations are being increasingly identified with associated syndromes caused by sporadically occurring, non-heritable somatic mutations. CLOVES syndrome is a newly recognized constellation of congenital lipomatous overgrowth with vascular malformations, epidermal nevi, and skeletal/spinal anomalies. We report the unique case of CLOVES syndrome diagnosed in a pediatric patient five years after the initial surgical resection of an extensive venolymphatic malformation involving the chest, neck, axilla, and posterior trunk. The lipomatous overgrowths were successfully resected, and subsequent genetic analysis revealed a heterozygous, pathogenic, somatic variant in the PIK3CA gene, confirming our suspicion of CLOVES syndrome.

A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome

“…Because of its heterogeneous nature and rarity, the number of published cases of CLOVES syndrome is under 200 hitherto. 11 , 14 The estimated incidence is less than 1:1,000,000. 1 , 11 , 14 , 15 There is no gender predilection, and the syndrome has been reported in all races and ethnic groups.…”

“… 11 , 14 The estimated incidence is less than 1:1,000,000. 1 , 11 , 14 , 15 There is no gender predilection, and the syndrome has been reported in all races and ethnic groups. 11 , 15 The disorder is congenital and has a prenatal onset; thus, it presents either at birth or in early childhood.…”

“… 1 , 3 , 6 , 8 , 18 , 23 , 27 , 32–35 The overgrowth is segmental, patchy, asymmetric, and confined to body parts affected by the mutation. 1 , 14 , 32 …”

“…Congenital overgrowth of adipose tissue in all body regions and tissue spaces is typical in CLOVES syndrome. 14 , 29 Asymmetric truncal/ thoracic hypertrophy is present at birth. 14 , 32 The tumefactions, visible on the thoracic and abdominal wall as unilateral or bilateral masses, consist mainly of lipomatous and partly of lymphatic and vascular components.…”

“… 14 , 29 Asymmetric truncal/ thoracic hypertrophy is present at birth. 14 , 32 The tumefactions, visible on the thoracic and abdominal wall as unilateral or bilateral masses, consist mainly of lipomatous and partly of lymphatic and vascular components. 7 The truncal masses are detected commonly in the posterolateral chest wall and flank, but they may show variable contiguous extension to the anterior abdominal wall, groin, scrotum, retroperitoneum, mediastinum, pleura, paraspinal musculature, epidural spaces, gluteal area, and face.…”