Abstracts

Rationale: Linear nevus sebaceous syndrome (LSNS) reported to occurs in as many as 1 in 1000 live births and currently it is hypothesized that this disorder is the result of genetic mosaicism involving a lethal autosomal dominant gene.LSNS encountered a broad spectrum of abnormalities which may affects every organ system including the central nervous system,which then seizures and mental retardation are it main manifestation but many other system where also reported to be involved in this syndrome including the cardiovascular, skeletal, ophthalmological, urogenital and more.Allude LSNS occurs in relative high frequency and may affects different organ systems many physicians are not aware of it concurrent,which may delay diagnosis and treatmentMethods: We present 2 complex cases of LSNS with their evolution and review the current literature in this fieldResults: This syndrome is reported to occur in as many as 1 in 1000 live births without gender predominance. In 1975, Solomon and Esterly extensively reviewed LNSS associations grouping them into one category and defining them all as epidermal naevus syndrome (ENS).As progress was made in our understanding of dermatogenesis,6 subsets of ENS have been identified, distinguished by their genetic and clinical presentations.ENS is clinically expressed by epidermal mosaicism and in up to 18% of patients the mesoderm is also involved, which results in the associated findings of different clinical syndromes.Cutaneous findings are found in up to 30% of patients with epidermal nevus syndrome including large hypopigmented patches, hemangiomas,acanthosis nigricans-like lesions,café-au-lait spots and multiple nevi.Skeletal abnormalities are reported in up to 68% of patients with epidermal nevus syndrome and include localized alterations of the cranium consistent with fibrous dysplasia, and primary or secondary bony defects.Ocular abnormalities are reported to occur in up to 68% of patients with ENS with strabismus as the principal finding and epilepsy occurs in up to 25%. Multiple epileptic syndromes have been reported in association with ENS and LSNN including infantile spasms or West syndrome, as presented in our cases, sometimes evolving into Lennox-Gastaut syndrome. Ohtahara syndrome has been reported as well, progressing to Lennox-Gastaut syndrome Conclusions: LSNS is relatively common neurocutaneous disorder with multi-system involvement.Children with this condition may present to various sub-specialty physicians, which may delay diagnosis, as in our second case when the correct diagnosis was made only at 3 years of age. We suggest that all children with suspected diagnosis of LNSS should undergo a multisystem evaluation, including EEG, brain MRI,hepatic and renal function testing and ophthalmology assessment