Syndromes with focal overgrowth in infancy: Diagnostic approach and surgical treatment

Abstract

Syndromes with focal overgrowth are sporadic diseases and comprise Proteus syndrome and congenital lipomatous overgrowth, vascular malformations, and epidermal naevi (CLOVE) syndrome, and isolated hemihyperplasia. We describe 3 children classified according to standard criteria with dysregulated growth of various tissues that was excised, together with excess toes, and tumours. Correct classification facilitates diagnosis and operations. Interdisciplinary treatment and follow-up are recommended to prevent disfiguration.

Cloves syndrome: A rare disorder of overgrowth with unusual features – An uncommon phenotype?

“…[510] Although strabismus consequent from overgrowth of face and premature growth of teeth abnormalities can occur, auditory anomalies remain unreported. [2511] Interestingly, ocular and dental abnormalities (ptosis, esotropia, delayed canine eruption, dental hypoplasia), ipsilateral asymmetrical deformity of skull, and large left cerebral hemisphere with mild ipsilateral ventriculomegaly in our patient were peculiar and perhaps denote an uncommon phenotype. However, it remains conjectural for now for paucity of cases and can be resolved after long-term follow-up of such cases in view of variable and broad phenotypic spectrum of the disorder in general.…”

“…This will also prevent cutaneous and visceral morbidities, neurological deficit, pain, breathing difficulties, and possible complications such as hemoptysis, gastrointestinal bleeding or obstruction, and pulmonary embolism arising from vascular anomalies. [791118] mTOR inhibitors (sirolimus), PI3K inhibitors (copanlisib and other isoforms), and BYL719 in the treatment of complicated vascular or other overgrowth anomalies in experimental and early clinical trials appear attractive therapeutic possibilities. [192021] However, excessive scarring after surgery in these individuals remains a concern.…”

Proteus Syndrome with Arteriovenous Malformation

“…The vascular lesions may be extensive capillary malformations or more complex combined capillary-venous-lymphatic malformations. [1234567] Since Proteus syndrome is characterized by a constellation of signs and symptoms, for the clinical diagnosis, general and specific criteria have been proposed [Table 1]. [89] Few reports are available in the literature for the presentation of arteriovenous (AV) malformation in this syndrome.…”