What is your diagnosis?

Abstract

CLOVES syndrome is a rare, newly described, and relatively unknown syndrome, related to somatic mutations of the PIK3CA gene. Clinical findings include adipose tissue overgrowth, vascular malformations, epidermal nevi, scoliosis, and spinal deformities. This report deals with a characteristic phenotype case, highlighting peculiar cutaneous and radiological changes.

A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome

“… 3 , 5 , 8 , 11 , 15 , 19–30 The syndrome harbors postzygotic activating somatic mutations in PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) gene mapped to chromosome 3q26.32, which encodes a 110-kD catalytic α subunit of PI3K (phosphoinositide 3-kinase). 1 , 8 , 11 , 13 , 23 , 24 , 31 , 32 PI3K is a lipid kinase that converts phosphatidylinositol (4,5)-bisphosphate to phosphatidylinositol (3,4,5)- triphosphate and regulates cell proliferation, growth, and survival. 13 A complex signaling pathway paves the way for activation of AKT1 (protein kinase B), and subsequently drives enhanced cell proliferation through mTOR1 (mammalian target of rapamycin).…”

“… 6 , 13 Activating mutations of PIK3CA commence in uncontrolled growth of predominantly mesoderm-derived (eg, adipose tissue, vascular and lymphatic tissues, muscle, bone) and neuroectoderm-derived tissues (eg, skin, brain cephalic connective tissue). 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 …”

“… 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 …”

“… 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.…”

Can Tissue Expansion Reconstruction in the Trunk of Children Increase the Risk of Scoliosis?

“…There are a handful of rare syndromic conditions described in the literature where these nevi and skeletal abnormalities are known to coexist. These include cutaneous skeletal hypophosphatemia syndrome, 21 CLOVES syndrome, 22,23 and Becker nevus syndrome. 24 Several case reports also present this unique combination in specific patients.…”