title: Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features.
abstract: Epidermal nevus syndrome (ENS) is a rare disease, the pathogenesis of which is largely elusive. We, hereby, report an exclusive case of a 20-year-old man with verrucous ENS presented with dark colored papules and plaques along the Blaschko's lines present over the head and neck area along with fleshy growth in both eyes since birth. Limb length discrepancy and kyphoscoliosis were remarkable. Skin biopsy was compatible with verrucous epidermal nevus while the biopsy of the ocular lesion confirmed complex choristoma. MRI brain revealed calcification in the right temporal lobe. Bilateral arachnoid cyst in the middle cranial fossa, scleral osteoma in the posterior part of the right eyeball, and deformed calvarium were evident on CECT skull and orbit. The present illustration emphasizes the importance of a punctilious work up of the case.
authors: Department of Dermatology and STD, University College of Medical Sciences and Guru Teg Bahadur Hospital, University of Delhi, Delhi, India.
authors: Reena
authors: R
authors: Sharma
authors: Archana
authors: A
authors: Singal
authors: Prashant
authors: P
authors: Verma
authors: Jolly
authors: J
authors: Rohatgi
authors: Sonal
authors: S
authors: Sharma
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000273:Adipose Tissue; D000328:Adult; D016080:Arachnoid Cysts / Q000000981:diagnostic imaging; D001859:Bone Neoplasms / Q000000981:diagnostic imaging; D002828:Choristoma / Q000175:diagnosis*; D003238:Connective Tissue; D005128:Eye Diseases / Q000175:diagnosis; D005134:Eye Neoplasms / Q000000981:diagnostic imaging; D006258:Head and Neck Neoplasms / Q000473:pathology*; D006801:Humans; D007738:Kyphosis / Q000000981:diagnostic imaging; D007765:Lacrimal Apparatus; D008297:Male; D009508:Nevus, Pigmented / Q000473:pathology*; D010016:Osteoma / Q000175:diagnosis / Q000000981:diagnostic imaging; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging; D012640:Seizures / Q000188:drug therapy; D012878:Skin Neoplasms / Q000473:pathology*; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D055815:Young Adult