Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenes...

PURPOSE Neurofibromatosis type 1 (NF-1) is an autosomal dominant phakomatosis with a prevalence of 1 in 2000 to 1 in 5000. Up to 24% of these patients have optic pathway gliomas (OPGs). In the present study, the use of sweep visual evoked potentials (SVEPs) was investigated as a screening tool for identifying patients with NF-1 who had OPGs by comparing them to those patients with no OPGs and t...

AIM To report rare findings of oral and periodontal manifestations in a patient with Epidermal nevus syndrome (ENS). BACKGROUND The ENS describes the rare association of an epidermal nevus with abnormalities of central nervous system,ocular and skeletal abnormalities. Reports of oral involvement have been few. Also, most of the intraoral lesions have been reported in patients with nevi that d...

BACKGROUND Epidermal naevi are benign hamartomatous growths of the skin which are generally asymptomatic with a benign course but are cosmetically disagreeable. Topical treatments such as steroids, calcipotriol, 5 fluorouracil, podophyllin, retinoids and cryotherapy are ineffective and surgical excision results in scar formation. Therapy is often challenging. AIM OF THE STUDY To study the res...

Schimmelpenning syndrome (SS) is characterised by specific skin manifestations, skeletal defects, and central nervous system abnormalities. Here, the SS is briefly reviewed, and the oral and dental manifestations are described in a patient whose medical findings were previously published and included severe hypophosphatemic rickets. Significant oral and dental features included papillomatous le...

TO THE EDITOR Nevus spilus is a descriptive term used to denote any cutaneous lesion with a café-au-lait macular background and superimposed on more pigmented areas. Small single nevus spilus are relatively common, and they have recently been described to be due to somatic activating HRAS mutations (Sarin et al., 2014). Larger superficial lesions with small superimposed junctional nevi in assoc...

A 30-year-old woman presented with a history of generalized tonic-clonic seizures since childhood, occurring for the first time at age 9. The initial diagnostic workup at age 13 demonstrated a distinctive calcified mass of the left frontal lobe on CT (figure, A). Together with a single facial nevus, the lesion was suspected to represent Sturge-Weber-like phakomatosis; however, the patient’s cli...

We report a case of epidermal nevus syndrome involving the brain in which there is chronic occlusion of the left distal internal carotid artery resulting in ipsilateral atrophy. Orbital and cerebellopontine angle cistern lipomas and a wide cortical developmental malformation are associated with the condition. We present MR imaging findings of a patient and discuss features in the context of oth...

Linear Nevus Sebaceous Syndrome (LNSS) is a rare sporadic oculoneurocutaneous disorder, also classified as Organoid Nevus Syndrome. It consists of a triad of midline facial linear nevus sebaceous, central nervous system and ocular abnormalities. To the best of authors' knowledge ophthalmic features of LNSS have never been reported in Pakistani population. We report two cases of LNSS, associated...