Incidence and Clinicopathological features of Neurocutaneous Disorders.

INTRODUCTION ; Neurocutaneous disorders are genetically determined disorders showing both cutaneous and neurologic involvement. The definition includes both hereditary and nonhereditary 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. Some clinicians still use phacomatosis to categorize particular neurocutaneous diseases characterized by patchy lesions involving the skin and the nervous system. Unfortunately, this term has diminished rather than increased our understanding of these disorders because the group of phacomatoses has never been well defined. Today, this term should no longer be used for the classification of neurocutaneous diseases but may be applied, together with a specifying adjective, to some genetically determined diseases characterized by the presence of multiple nevi, such as phacomatosis pigmentovascularis. AIM OF THE STUDY : 1. To study the incidence of Neurocutaneous disorders in the outpatients attending the Department of Dermatology in Government General Hospital, Chennai, from July 2006 to September 2008. 2. To determine the age and sexwise distribution of Neurocutaneous disorders. 3. To study the clinical morphology and distribution of lesions. 4. To correlate the morphological lesions with the histopathological freatures. 5. To evaluate incidence of associated systemic abnormalities. 6. To determine the involvement in other family members. CONCLUSION 1. In the study of 109 cases of Neurocutaneous syndromes, Neurofibromatosis topped the list followed by Tuberous sclerosis complex. 2. NF – Type –I accounted for the maximum number of Neurofibromatosis. 3. The most common clinical sign in NF was CALM followed by mollusca fibrosa. 4. Axillary, inguinal, palmar and plantar freckling were the notable pigmentary changes in NF. 5. Lisch nodules accounted for 81.3% of the cases in NF. 6. Skeletal abnormalities in the form of kyphoscoliosis, local gigantism and facial asymmetry were reported. 7. One case of sarcoma complicating NF was observed. 8. A case of NF-II with multiple intracranial tumours in MRI was detected. 9. Tuberous sclerosis complex is the second most common neurocutaneous disorder. 10. Angiofibroma was observed in 100% cases followed by ash leaf macules (85%). 11. Few patients had sub-ependymal nodules and cortical tubers. 12. One patient with astrocytoma and one patient with renal angiomyolipoma were observed. 13. Classical features of XP were observed in a patient who also had cutaneous malignancies – BCC over the nose and SCC over the cheek. 14. Sturge – Weber syndrome with unilateral port wine stain with seizures was reported in our study. 15. One case of unilateral naevus comedonicus was reported. 16. Two cases of Waardenburg syndrome ( mother and child ) was observed in our study. Both had white forelock, heterochromia iridis and deafness. 17. Two cases of epidermal naevus syndrome with extensive involvement and seizures were noted. 18. Two cases of giant congential melanocytic naevus were reported. 19. A case of Elejalde syndrome with typical clinical manifestations was observed. 20. One case of oculocutaneous albinism was reported. 21. One case of Adams Oliver syndrome with Dandy Walker malformation has been reported