Case series of children with neuro-cutaneous syndromes

Neurocutaneous syndrome (Phakomatoses) is a genetic disorder affecting the skin and nervous system, characterized by benign tumours or malformations. It includes Tuberous Sclerosis Complex (TSC), Sturge-Weber Syndrome, Neurofibromatosis, Incontinentia Pigmrnti, Ataxia Telangiectasia etc. These disorders are inherited in autosomal dominant and autosomal recessive ways, with some being sporadic and having a genetic predisposition in rare cases. The case series aimed to examine the clinical profile of children with Neurocutaneous syndrome, their symptoms, seizure type and treatment response. This prospective observational study was conducted at Pushpagiri Medical College Hospital in Tiruvalla, India, involving 10 children with various forms of NCS between the ages of 0-15, four cases of Sturge weber syndrome ( SWS), two cases of neurofibromatosis (NF-1), two cases of Hypomelanosis of Ito, one case of Tuberous sclerosis complex, and one case of Incontinentia pigmenti. Sturge Weber syndrome involved non-neoplastic congenital dermal capillary hamartomatous malformation, with neurological symptoms including generalized tonic-clonic seizures, muscle stiffness, rhythmic jerking movements, and 50% partial/ focal seizures. Neurofibromatosis type 1 is a genetic disorder in children, with two children in the study showing mild symptoms and café au lait spots. Hypomelanosis of Ito affected two children out of ten, experiencing 50% generalized tonic-clonic seizures and developmental delays. Tuberous sclerosis complex was confirmed in one child with hypomelanotic macules, focal seizure, hypopigmented streaks, and patches in a 'whorl-like' distribution typical of HI with 100% developmental delays. TSC was caused by mutations of the TSC1 gene on chromosome 9, which encodes hamartin, and the TSC2 gene on chromosome 16, which encodes tuberin. It was concluded that these syndromes have severe neurological features and developmental issues, requiring multiple therapies. NF-1 has a high prevalence of generalized seiszure. Hypomelanosis of Ito has multi-organ involvement, and the Tuberous Sclerosis complex has severe developmental impairment and dermatological manifestations. The series emphasizes the need for early detection and individual care approaches to improve children's lives.