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...

Becker naevus syndrome is a rare epidermal naevus syndrome defined by the co-occurrence of a Becker naevus with various cutaneous, muscular and skeletal anomalies. In the majority of cases, abnormalities exclusively consist of ipsilateral hypoplasia of the breast, areola and/or nipple in addition to the naevus. Here, we report on a 42-year-old woman with an extensive Becker naevus reaching from...

The epidermal nevus syndrome (ENS) is an uncommon neurocutaneous disorder in which epidermal nevi are found in association with congenital abnormalities of the brain, eye, and/or skeleton. The association of epidermal nevi and neurologic abnormalities was comprehensively described by Schimmelpenning in 1957. Pavone et al. (1991) identified a homogeneous variant of ENS with hemimegalencephaly, g...

Sir, We describe here the case of a man aged 65-years at our first examination with non-epidermolytic epidermal naevus of a soft, papillomatous type covering large areas of the left side of his body and scalp. He reported bilateral hearing loss and earlier frequent mastoiditis. He was of short stature and had had dyspnoea since childhood affecting his sporting activities, reduced touch sensatio...

The authors present a case of linear nevus sebaceous syndrome (LNSS) with atrophy of bilateral frontotemporal areas of the brain, left cerebellum and hippocampus, and bilateral uncal dysplasia demonstrated by magnetic resonance imaging (MRI). Magnetic resonance angiography revealed bilateral internal carotid artery hypoplasia with absence of flow in the anterior and middle cerebral arteries. Tc...