Background: To present a case of conjunctival lymphangioma in a 4-year-old girl with tuberous sclerosis complex. Methods/results: A 4-year-old girl presented with a relapsing cystic lesion of the bulbar conjunctiva in the right eye with string-of-pearl-like dilation of lymphatic vessels and right-sided facial swelling with mild pain. Best-corrected vision was not impaired. Examination of the sk...

BACKGROUND Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the development of benign hamartomas in multiple organs. Most patients with TSC exhibit cutaneous manifestations. METHODS We report a 28-year-old patient with multiple pink papules at the proximal nail fold of several toes. RESULTS Histopathological analysis of a biopsy of a papule was consistent ...

Background Tuberous Sclerosis Complex (TSC), and Spinal Muscular Atrophy (SMA) are two inherited disorders while they are genetically independent. TSC is characterized by the formation of multiple hamartomas in nearly all organs. SMA is a destructive neurological disorder leading to progressive muscular weakness and atrophy. Case Presentation</e...

The clincopathological features and pathogenesis of secondary mosaic degeneration of the cornea (anterior crocodile shagreen of Vogt) are described. The structural basis for the normal anterior corneal mosaic pattern seems to lie in the particular arrangement of many prominent collagen lamellae of the anterior stroma that thake an oblique course to gain insertion into Bowman's layer. Since, at ...

An 11-year-old girl and a known case of tuberous sclerosis was referred for ophthalmic evaluation. The parents had noted multiple pigmented lesions on her face, scalp and neck since the age of 3 years. There were no neurological symptoms at the time of presentation. General physical examination revealed adenoma sebaceum on her face (Figure 1A), neck (Figure 1C) and scalp; a shagreen patch was d...

La linfangioleiomiomatosis (LAM) es una enfermedad rara que afecta predominantemente a la mujer, sobre todo en edad fértil. Se da de forma esporádica o bien asociada al complejo esclerosis tuberosa. presenta el caso paciente femenina 25 años, con cuadro clínico consistente fiebre y tos seca un mes evolución, asimismo, presentaba angiofibromas cutáneos faciales, parches Shagreen cuello hombros t...

A new frog of the Pristimantis myersi Group is described from a bamboo patch within the Reserva Ecológica Verdecocha (0°5'46.9"S, 78°36'15.3"W; 2851 m), located at northwestern flank of the Volcán Pichincha, in the vicinities of Quito, Ecuador. The new species is known from eight adult males, whereas the females remain unknown; it can be readily distinguished from all species of the P. myersi G...

Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, and lymphangioleiomyomatosis. It is due to inactivating mutations in TSC1 or TSC2. We sought to generate a mouse model of one or more of these tumor types by targeting deleti...