A Review on Cutaneous and Musculoskeletal Manifestations of CLOVES Syndrome.

Öztürk Durmaz E., Demircioğlu D., Dikmen P., Alanay Y., Alanay A., Demirkesen C., ...Daha Fazla

Clinical, cosmetic and investigational dermatology, cilt.15, ss.621-630, 2022 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 15
  • Basım Tarihi: 2022
  • Doi Numarası: 10.2147/ccid.s351637
  • Dergi Adı: Clinical, cosmetic and investigational dermatology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.621-630
  • Anahtar Kelimeler: CLOVES syndrome, PIK3CA-related overgrowth spectrum, cutaneous manifestations, port wine stains, lymphangiomas, lipomas, epidermal nevi, CONGENITAL LIPOMATOUS OVERGROWTH, PIK3CA SOMATIC MUTATION, VASCULAR MALFORMATIONS, EPIDERMAL-NEVI, MOLECULAR DIAGNOSIS, NATURAL-HISTORY, SPECTRUM PROS, DELINEATION, PATHWAY
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet

Özet

CLOVES syndrome is a novel sporadic mosaic segmental overgrowth syndrome, currently categorized under the canopy of PROS (PIK3CA-related overgrowth spectrum) disorders. All PROS disorders harbor heterozygous postzygotic activating somatic mutations involving the PIK3CA gene. As an upstream regulator of the PI3K/AKT/mTOR signal transduction pathway, activating mutations of PIK3CA gene commence in uncontrolled growth of cutaneous, vascular (capillaries, veins, and lymphatics), adipose, neural, and musculoskeletal tissues. The excessive growth is segmental, patchy, asymmetric, and confined to body parts affected by the mutation. The term 'CLOVES' is an acronym denoting congenital lipomatous overgrowth, vascular malformations, epidermal nevi and spinal (scoliosis) and/ or skeletal anomalies. The syndrome is characterized by an admixture of overgrown tissues, derived mainly from mesoderm and neuroectoderm. Among PROS disorders, CLOVES syndrome represents the extreme end of the spectrum with massive affection of almost the entire body. The syndrome might judiciously be treated with medications hampering with the PI3K/AKT/mTOR signal transduction pathway. This article aims at reviewing the cutaneous and musculoskeletal manifestations of CLOVES syndrome, as the paradigm for PROS disorders. CLOVES syndrome and other PROS disorders are still misdiagnosed, underdiagnosed, underreported, and undertreated by the dermatology community.