S. Kayalvizhi Money1, R. Suganya Gnanadeepam2
Neurocutaneous disorders are genetically determined disorders showing both cutaneous and neurologic involvement. The definition includes both hereditary and non-hereditary phenotypes, but excludes acquired disorders. Either they follow the established Mendelian modes of inheritance or they represent lethal mutations surviving by mosaicism or they belong to the group of chromosomal disorders.
MATERIALS AND METHODS
This study was conducted at the Department of Dermatology, Government KAPV Medical College, Trichy, for a period of 12 months from January 2016 to December 2016. Patients were selected among those attending the outpatient department with signs and symptoms pertaining to neurocutaneous syndromes. Preliminary information like age, sex, educational qualification, present and past illness, family history elicited. Dermatological examination consisted of thorough screening of patients to detect the cutaneous markers for neurocutaneous disorders. A detailed systemic examination was done, particularly central nervous system.
In this study, neurofibromatosis (68.8%) topped the list followed by tuberous sclerosis complex (18.3%) and other rarer disorders like xeroderma pigmentosum (2.7%), giant congenital melanocytic naevus (1.8%), Sturge-Weber syndrome (0.9%), Waardenburg syndrome (1.8%), epidermal naevus syndrome (1.8%), naevus comedonicus (0.9%), Elejalde syndrome (0.9%), oculocutaneous albinism (0.9%) and Adams-Oliver syndrome (0.9%).
In this study of 109 cases of neurocutaneous syndromes, neurofibromatosis topped the list followed by tuberous sclerosis complex. Classical features of xeroderma pigmentosum was observed in 1 patient. Sturge-Weber syndrome with unilateral port wine stain with seizures was reported in our study. Two cases of Waardenburg syndrome, epidermal nevus syndrome and giant congenital melanocytic nevus were reported in my study. One case of unilateral nevus comedonicus, Elejalde syndrome, oculocutaneous albinism and Adams-Oliver syndrome with Dandy-Walker malformation was reported in this study.