ISSN: 2574-7800
Authors: El-Ammari S*, Baybay H, Elloudi S, Soughi M, Douhi Z and Mernissi FZ
Overgrowth syndromes are characterized by Global or localized excessive growth coupled with additional abnormalities, such as vascular malformations and neurological and/or visceral disorders [1]. Cloves syndrome is a recently described overgrowth syndrome caused by a mutation of an allele of the PIK3CA gene [2,3]. It is an acronym for congenital lipomatous overgrowth, vascular malformations, epidermal nevi and skeletal anomalies, scoliosis and spinal anomalies [3]. It is characterized by an asymmetrical body hypertrophy with macrodactyly and scoliosis, a distinctive thoraco-abdominal congenital lipomatous hamartoma, and various malformations, particularly vascular malformations including capillary, venous, lymphatic micro or macrocystic malformations, and rarely arteriovenous malformations, often located opposite the lipomatous masses [1,2]. The syndrome also presents with an epidermal nevus following a linear path along Blaschko’s lines [1,2], as well as neurological anomalies such as hemimegalencephaly and corpus callosum dysgenesis, which are associated with varying degrees of intellectual impairment [3,4], and visceral malformations like renal agenesis/hypoplasia and splenic lesions [1,2]. Primary differential diagnosis is Proteus syndrome, which has a higher morbidity and mortality rate compared to Cloves syndrome. Proteus syndrome is characterized, unlike Cloves syndrome, by acquired lipomatous masses and a cerebriform aspect of the soles in 71% of cases, and it often manifests between the ages of 6 and 18 months [2,4]. The diagnosis of Cloves syndrome is based on clinical presentation [3] and confirmed through genetic testing [1]. Treatment is primarily symptomatic and may include surgery to address overgrowth and physical therapy to improve mobility [3]. Inhibitors of mTOR (mammalian target of rapamycin) and PI3K (phosphoinositide 3-kinase) have shown promising results as treatment options for Cloves syndrome. However, clinical trials and studies evaluating their efficacy are currently limited.
Keywords: Overgrowth
