Tuberous sclerosis complex (TSC), a neurocutaneous syndrome, is characterized by the development of benign tumours affecting different body systems. We herein present a report of a 40-year-old female patient presenting with dental enamel pits and localized gingival overgrowth that eventually lead to the diagnosis of a case of familial TSC. Diagnosis of familial TSC by comprehensive oral examina...

A 52-year-old woman presented with a 10-year-history of memory loss and executive dysfunction. Examination disclosed hypopigmented whorls and linear streaks following the lines of Blaschko in different body segments (Figure 1), typical of Hypomelanosis of Ito (HI). Brain MRI showed marked enlarged Virchow-Robin spaces (Figure 2). HI or incontinentia pigmenti achromians (MIM#300337) represents a...

Pigmentary mosaicism is a term used to encompass all of these different types of pigmentary patterns. Among these mosaic patterns, there have been only a few reports of the phylloid presentation in the literature. On the other hand, autoimmune disorders can be associated with neurocutaneous markers and syndromes. A fifteen-year-old girl was presented for chronic diarrhea and abdominal pain. Her...

The visually striking neurocutaneous findings of neurofibromatosis type 1 (NF1) are well recognized and have been documented throughout scientific literature. While not uncommon, the pulmonary manifestations NF1 unknown to many physicians. Complications associated diffuse lung disease (NF-DLD) include hypertension, artery stenosis, subpleural cysts, spontaneous pneumothorax. We present a case 3...

The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described. The diagnos...

Neurofibromatosis (NF) is an autosomal dominant disorder that affects the bone, the nervous system, soft tissue and the skin. NF is a neurocutaneous condition that can involve almost any organ system existing in two subtypes. NF1 is the most common subtype and is referred to as peripheral NF. Plexiform neurofibromas are diffuse, elongated fibromas coursing along the nerves. These lesions freque...