Neurocutaneous syndrome: A prospective study

Abstract

Background:Neurocutaneous syndromes (NCS) are a group of genetic disorders that produce a variety of developmental abnormalities of the skin along with an increased risk of neurological complications. Cutaneous manifestations usually appear early in life and progress with time, but neurological features generally present at a later age. There is a paucity of data regarding the evolution of skin lesions and their correlation with the central nervous system involvement in children.Aim:The primary objective was to track the course of skin lesions in various forms of NCS in the pediatric age group. Our secondary aim was to assess whether there was any predictive value of the lesions in relation to the neurological manifestations.Materials and Methods:This prospective longitudinal study was conducted at a tertiary care pediatric dermatology referral clinic of the Institute of Child Health, Kolkata, West Bengal. Children between the age group 0 and 12 years were included in the study on the basis of standard diagnostic criteria for different NCS, during the period from March, 2000 to February, 2004, and each of the enrolled cases were followed up for a duration of six years.Results:The study population comprised of 67 children (35 boys, 32 girls).The mean age of presentation was 33.8±27.8 months (range 10 days to 111 months). The various forms of NCS observed was neurofibromatosis 1(NF1) (n=33), tuberous sclerosis complex (TSC) (n=23), Sturge Weber syndrome (n=6), ataxia telangiectasia (n=2), PHACE syndrome (n=1), incontinentia pigmenti (n=1), and hypomelanosis of Ito (n=1). The presentations were varied, ranging from predominantly cutaneous to primarily neurological, depending on the disease entity and age group concerned. There was a significant increase in the number of café au lait macules (CALMs) with time (P=0.0002) in NF1, unlike that of hypopigmented macules of TSC (P=0.15). Statistically, no relation was documented between the evolution of skin lesions and neurological manifestations in the major groups.Conclusion:As NCS is not an uncommon disease in children, it is always necessary to find out the subtle neurological signs, whenever we observe any case with cutaneous markers suggestive of NCS. In addition, it is a must to do a detailed dermatological examination in a child with central nervous system involvement, in the pediatric population. However, the neurological course cannot be predicted from skin lesions.

Hypomelanosis of Ito with an unusual pulmonary abnormality in an infant

“…HI was first described in 1952. [ 1 2 ] Because, in 33%-94% of the cases, central nervous system (CNS) and musculoskeletal system were also involved apart from the skin, HI is called as a neurocutaneous syndrome although it was originally described as a purely cutaneous disease. [ 3 ] Cutaneous lesions in this rare syndrome include hypopigmented whorls, streaks, and patches along the lines of Blaschko.…”

“…Ito's hypomelanosis combines structural and functional changes affecting both the melanocytes and keratinocytes in the skin. [ 1 ] Extracutaneous abnormalities involve the CNS, musculoskeletal (scoliosis, vertebral anomalies, craniofacial malformations), dental, cardiac, gastrointestinal, or renal system. [ 2 3 4 5 ] The most commonly associated abnormalities involve the nervous system, including mental retardation (70%), seizures (40%), microcephaly (25%), and muscular hypotonia (15%).…”

“…Hypomelanosis of Ito (HI) is a rare neurocutaneous syndrome characterized by hypopigmented skin lesions with a peculiar pattern of streaks, whorls, swirls, and patches. [ 1 2 ] The associated systemic abnormalities predominantly affect the nervous and musculoskeletal system and less commonly gastrointestinal, renal, and cardiac systems. [ 1 2 3 4 5 ] So far, as per our knowledge, no major pulmonary abnormality has been reported in association with this syndrome.…”

“…[ 1 2 ] The associated systemic abnormalities predominantly affect the nervous and musculoskeletal system and less commonly gastrointestinal, renal, and cardiac systems. [ 1 2 3 4 5 ] So far, as per our knowledge, no major pulmonary abnormality has been reported in association with this syndrome. We report a case of HI in an infant with segmental pulmonary hypoplasia for the first time.…”