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.

High‐level somatic mosaicism of AKT1 c.49G>A mutation in skin scrapings from epidermal nevi enables non‐invasive molecular diagnosis in patients with Proteus syndrome

“…At the age of 38 months, the tumor of the right nostril was excised followed by reconstruction of the right ala cartilage. The removed tissue was classified by histology as a benign hamartoma compatible with connective tissue nevus [Mirastschijski et al, 2012]. A DNA sample was obtained from the affected tissue after surgery.…”

Proteus Syndrome in Intensive Care Unit: Case Report and Review of the Literature

“…200 cases have been reported up to now, but none has been associated with intracranial hemorrhage due to the AVM malformation. Primary involvement of lung diseases, kyphoscoliosis causing secondary restrictive lung diseases are the reasons of perioperative respiratory failure[5,6].…”

CLOVE Syndrome- Case Report of a rare Congenital Disorder

“…IHH is distinguished from both the syndromes by its slow and mild course, without major disfiguration and with isolated overgrowth of extremities. 4 The suggestions that the management of CLOVES syndrome is mainly supportive'' is inaccurate and may lead to poor or delayed treatment. Severe scoliosis, large truncal mass, paraspinal high-flow lesions with spinal cord ischemia, lymphatic malformations, cutaneous vesicles, orthopedic problems of the feet and hands and central phlebectasia/ thromboembolism are just a few examples of significant morbidities that need active or prophylactic medical interventions.…”