53rd European Society of Human Genetics, 6 - 09 June 2020, pp.30
E-P11.030 A Rare Case Report: Cloves Syndrome
Introduction: Clove(s) syndrome (CS) is one of the rare syndromes characterized with congenital adipose tissue excessive size, vascular malformation, epidermal nevus and scoliosis/ spinal malformation. Although the etiology of the disease is not fully understood, it usually occurs as a result of post-zygotic mutations that function in the PIK3CA gene. CS syndrome can affect soft tissue, blood vessels, bone, and internal organs. Its symptoms vary widely between mild and severe anomalies.
Clinical Findings: A 3-year-old girl was referred to our outpatient clinic with a preliminary diagnosis of vascular malformation. In her physical examination, there was progressive growth in the abdomen, pigmented skin lesions in the left half of the body from birth, and capillary malformation (nevus flammeus) in the right lower limb and perivulvar region. Scoliosis, left hemihypertrophy, sandal gap and macrodactyly were detected in the toes.
Results: In the Clinical Exom DNA sequence analysis from the blood sample taken from the patient, a Heterozygous c.436G˃A p.(Val146Ile) mutation was detected and confirmed by Sanger sequence. The PIK3CA gene is named as an oncogene encoding 23 exons, located on the PI3K/AKT signal pathway.
Conclusion: As a result of changes in the PIK3CA gene, congenital lipamatosis has been reported to cause anomalies and syndromes such as overgrowth, vascular malformations, epidermal nevus. Applying the diagnostic criteria of Keppler- Noreuil et al., our case was found to be compatible with the diagnosis of CS. CS is the first case reported in our country supported by molecular analysis.
Keywords: Cloves Syndrome, PIK3CA gene, Clinical Exome.