title: [CLOVES syndrome: a malformational syndrome closely resembling Proteus syndrome].
abstract: BACKGROUND
  CLOVES syndrome (Congenital Lipomatous asymmetric Overgrowth of the trunk with lymphatic, capillary, venous, and combined-type Vascular malformations, Epidermal nevi, Skeletal anomalies) is a sporadic malformational syndrome that has recently been described (mutation of PIK3CA), with asymmetric body hypertrophy, lipomatous hamartoma of the trunk and numerous malformations.
  
  
  METHODS
  We report a case of CLOVES syndrome initially diagnosed as Proteus syndrome, revealed by infection of a dorsal lipomatous hamartoma. The patient presented with both right lower limb hypertrophy and capillary and venous-lymphatic malformations, associated with dorsal capillary malformations, left cervico-facial hypertrophy, and cervical epidermal hamartoma, all of which are consistent with Proteus syndrome. Imaging of the dorsal lipomatous hamartoma associated with capillary as well as underlying venous-lymphatic malformations and syringomyelia resulted in subsequent correction of the earlier diagnosis of Proteus syndrome to that of CLOVES syndrome.
  
  
  CONCLUSIONS
  Several malformational syndromes are associated with tissue hypertrophy, hamartoma and vascular malformations. Diagnosis of CLOVES syndrome may be delayed due to its fairly close phenotypic similarity to Proteus syndrome. Nevertheless, the prognosis and complications differ. Our case underlines the importance of considering a diagnosis of CLOVES syndrome in the presence of lipomatous hamartoma with hemi-hypertrophy and epidermal hamartoma, in order to enable adequate follow-up with specific monitoring for the possible complications associated with this disease.
authors.affiliation: Service de dermatologie, CHU Hôtel-Dieu, 1, place Alexis-Ricordeau, 44093 Nantes, France. Electronic address: a-guillet@hotmail.fr.
authors.forename: A
authors.initials: A
authors.lastname: Guillet
authors.affiliation: Service de dermatologie, CHU Hôtel-Dieu, 1, place Alexis-Ricordeau, 44093 Nantes, France.
authors.forename: H
authors.initials: H
authors.lastname: Aubert
authors.affiliation: Service de dermatologie, CHU Hôtel-Dieu, 1, place Alexis-Ricordeau, 44093 Nantes, France.
authors.forename: M-H
authors.initials: MH
authors.lastname: Tessier
authors.affiliation: Service de génétique médicale, CHU Hôtel-Dieu, 1, place Alexis-Ricordeau, 44093 Nantes, France.
authors.forename: A
authors.initials: A
authors.lastname: David
authors.affiliation: Service de radiologie, CHU Hôtel-Dieu, 1, place Alexis-Ricordeau, 44093 Nantes, France.
authors.forename: C
authors.initials: C
authors.lastname: Perret
authors.affiliation: Service de dermatologie, CHU Hôtel-Dieu, 1, place Alexis-Ricordeau, 44093 Nantes, France.
authors.forename: M
authors.initials: M
authors.lastname: Penhoat
authors.affiliation: Service de dermatologie, CHU Hôtel-Dieu, 1, place Alexis-Ricordeau, 44093 Nantes, France.
authors.forename: J-F
authors.initials: JF
authors.lastname: Stalder
authors.affiliation: Service de dermatologie, CHU Hôtel-Dieu, 1, place Alexis-Ricordeau, 44093 Nantes, France.
authors.forename: S
authors.initials: S
authors.lastname: Barbarot
mesh_terms: D000293:Adolescent; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008067:Lipoma / Q000175:diagnosis*; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis*; D009506:Nevus / Q000175:diagnosis*; D016715:Proteus Syndrome / Q000175:diagnosis*; D054079:Vascular Malformations / Q000175:diagnosis*
keywords: CLOVES syndrome; Hamartome lipomateux; Hemi-hypertrophy; Hémi-hypertrophie corporelle; Lipomatous hamartoma; Proteus syndrome; Syndrome CLOVES; Syndrome de Protée; Syringomyelia; Syringomyélie