CLOVE syndrome

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Classification according to ICD-10
Q87.3 Congenital malformation syndromes with increased tissue growth in early childhood
ICD-10 online (WHO version 2019)

The CLOVE syndrome , acronym for C ongenital L ipomatous O vergrowth , V askular malformation and E pidermal nevus , is a very rare congenital malformation syndrome with the main characteristics that give it its name. The syndrome belongs to the group of overgrowth syndromes "PIK3CA-related overgrowth spectrum" (PROS).

Synonyms are: CLOVES syndrome (with scoliosis ); Congenital lipomatous overgrowth - vascular malformation - epidermal nevi - skeletal anomalies; Congenital lipomatous overgrowth - vascular malformation - epidermal nevi

The first description probably comes from the year 1867 by Hermann Friedberg .

The acronym was coined in 2007 by the US human geneticist Julie C. Sapp and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000.

root cause

The disease is a mosaic postzygotisch activating mutations in PIK3CA - gene on chromosome 3 locus q26,32 based encoding 3-kinase for phosphatidylinositol.

Clinical manifestations

Clinical criteria are:

In addition to the asymmetry of the skull , epilepsy , hemimegalencephaly , bar deficiency come.

Differential diagnosis

The Proteus syndrome is to be distinguished .

literature

  • A. Kasinathan, N. Sankhyan, CK Ahuja, P. Singhi: CLOVE Syndrome. In: Indian journal of pediatrics. Volume 85, number 1, 01 2018, pp. 79-80, doi: 10.1007 / s12098-017-2416-z , PMID 28752282 .
  • VL Luks, N. Kamitaki, MP Vivero, W. Uller, R. Rab, JV Bovée, KL Rialon, CJ Guevara, AI Alomari, AK Greene, SJ Fishman, HP Kozakewich, RA Maclellan, JB Mulliken, R. Rahbar, SA Spencer, CC Trenor, J. Upton, D. Zurakowski, JA Perkins, A. Kirsh, JT Bennett, WB Dobyns, KC Kurek, ML Warman, SA McCarroll, R. Murillo: Lymphatic and other vascular malformative / overgrowth disorders are caused by somatic mutations in PIK3CA. In: The Journal of pediatrics. Volume 166, number 4, April 2015, pp. 1048–54.e1, doi: 10.1016 / j.jpeds.2014.12.069 , PMID 25681199 , PMC 4498659 (free full text).
  • D. Harit, A. Aggarwal: CLOVE syndrome with nevus unis lateris: report of a case. In: Pediatric dermatology. Volume 27, number 3, 2010 May-Jun, pp. 311-312, doi: 10.1111 / j.1525-1470.2010.01149.x , PMID 20609160 .
  • ZS Gucev, V. Tasic, A. Jancevska, MK Konstantinova, N. Pop-Jordanova, Z. Trajkovski, LG Biesecker: Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE) syndrome: CNS malformations and seizures may be a component of this disorder. In: American journal of medical genetics. Part A. Volume 146A, number 20, October 2008, pp. 2688-2690, doi: 10.1002 / ajmg.a.32515 , PMID 18816642 , PMC 2819374 (free full text).

Individual evidence

  1. ↑ a b c CLOVE syndrome. In: Orphanet (Rare Disease Database).
  2. ^ H. Friedberg: huge growth of the right leg. in: Virchow Arch . 1867, Vol. 40, pp. 353-360.
  3. ↑ AI Alomari, R. Thiex, JB Mulliken: Hermann Friedberg's case report: an early description of CLOVES syndrome. In: Clinical genetics. Volume 78, number 4, October 2010, pp. 342-347, doi: 10.1111 / j.1399-0004.2010.01479.x , PMID 21050185 .
  4. ↑ JC Sapp, JT Turner, JM van de Kamp, FS van Dijk, RB Lowry, LG Biesecker: Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. In: American journal of medical genetics. Part A. Volume 143A, Number 24, December 2007, pp. 2944-2958, doi: 10.1002 / ajmg.a.32023 , PMID 17963221 .
  5. ↑ CLOVE syndrome, somatic.  In: Online Mendelian Inheritance in Man . (English)

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