Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients

• Published in: American journal of medical genetics. Part A Vol. 143A; no. 24; pp. 2944 - 2958
• Main Authors: Sapp, Julie C., Turner, Joyce T., van de Kamp, Jiddeke M., van Dijk, Fleur S., Lowry, R. Brian, Biesecker, Leslie G.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 15-12-2007; Wiley-Liss
• Subjects: Abnormalities, Multiple; Adipose Tissue - abnormalities; Adolescent; Adult; asymmetric overgrowth; Biological and medical sciences; Bone and Bones - pathology; bone distortion; Child; Dermatology; Diagnosis, Differential; Female; hemihyperplasia; hemihyperplasia-multiple lipomatosis syndrome (HHML); Humans; Infant; Klippel-Trenaunay syndrome; Male; Medical genetics; Medical sciences; Middle Aged; overgrowth; Proteus syndrome; Proteus Syndrome - diagnosis; Scoliosis - diagnosis; Syndrome; Terminology as Topic; Tumors of the skin and soft tissue. Premalignant lesions; Vascular Malformations - diagnosis; Skin disease; Diseases of the osteoarticular system; Cardiovascular disease; Distortion; hemihyperplasia; Vascular disease; Overgrowth syndrome; Proteus syndrome; Blood vessel; hemihyperplasia-multiple lipomatosis syndrome (HHML); Benign neoplasm; Complex syndrome; Human; Multiple; Congenital; overgrowth; Nevus; asymmetric overgrowth; Lipomatosis; Patient; Angioma; Malformation; Klippel- Trenaunay syndrome; Klippel Trenaunay angiodysplasia(syndrome); Adipose tissue disorders; Bone; bone distortion
• DOI: 10.1002/ajmg.a.32023
• EISSN: 1552-4833
• ISSN: 1552-4825

We present a series of seven patients who were previously diagnosed with Proteus syndrome, but who do not meet published diagnostic criteria for this disorder and whose natural history is distinct from that of Proteus syndrome. This newly recognized phenotype comprises progressive, complex, and mixed truncal vascular malformations, dysregulated adipose tissue, varying degrees of scoliosis, and enlarged bony structures without progressive bony overgrowth. We have named this condition congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) on a heuristic basis. In contrast to the bony distortion so characteristic of Proteus syndrome, distortion in CLOVE syndrome occurs only following major or radical surgery. Here, we contrast differences and similarities of CLOVE syndrome to Proteus syndrome. © 2007 Wiley‐Liss, Inc.