Epidermal Nevus Associated with Cerebral and Ocular MR Imaging Abnormalities This letter focuses on Schimmelpenning syndrome (SS), a neurocutaneous disorder related to epidermal nevus syndromes and characterized by craniofacial nevus, neurologic anomalies, and ocular pathology. We discuss clinical and MR imaging features of a 10-year-old boy, pointing out the etiopathologic substratum of this c...

Background: Lifa disease (Frictional dermal melanosis over bony prominences) has been described in Iraq for the first time in 1993, as a new distinctive pigmentary skin condition that followed chronic friction with a body washing agent (lifa) during bathing. Objective: To assess this increasingly common problem where still many doctors unaware about its presence especially in other Middle East ...

THE significance of pigmentation of the anterior segment of the eye in the development of glaucoma, especially in the area of the trabecula of the chamber angle, has been studied by many authors. von Hippel (1901) considered that glaucoma was due to obstruction of the chamber angle with pigment (Hanssen, 1923). Levinsohn (1908) microscopically established infiltration ofthe chamber angle by pig...

BACKGROUND The color of Indian skin shows great diversity and pigmentary disorders are a major concern of Indian women. Despite great variations in climate, diet, and social parameters within India, studies of the range of skin types have been rather scarce. AIMS This study was aimed at characterizing the color of Indian skin in various geographical locations, its characteristics in terms of ...

Waardenburg syndrome (WS) is caused by autosomal dominant mutations, and is characterised by pigmentary anomalies and various defects of neural crest derived tissues. It accounts for over 2% of congenital deafness. WS shows high variability in expressivity within families and differences in penetrance of clinical traits between families. While mutations in the gene PAX3 seem to be responsible f...

Hirschsprung disease (HSCR) is a complex disorder that exhibits incomplete penetrance and variable expressivity due to interactions among multiple susceptibility genes. Studies in HSCR families have identified RET-dependent modifiers for short-segment HSCR (S-HSCR), but epistatic effects in long-segment (L-HSCR) and syndromic cases have not been fully explained. SOX10 mutations contribute to sy...

BACKGROUND Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have compiled information on previous cases of pigmentary...

5. Bakos RM, Cartell A, Bakos L. Dermatoscopy of early-onset necrobiosis lipoidica. J Am Acad Dermatol. 2012;66:143--4. 6. Vazquez-Lopez V, Kreusch J, Marghoob AA. Dermoscopic semiology: further insights into vascular features by screening a large spectrum of nontumoral skin lesions. Br J Dermatol. 2004;150:226--31. 7. Brasiello M, Zalaudek I, Ferrara G, Gourhant JY, Capoluongo P, Roma P, et al...

1865 Pedraglia 1 Subsequently confirmed by 26 1870 de Wecker 1 pathological examination 1873 Baumeister 1 1882 Derigs 1 1890 Giinsburg I Pulmonary tuberculosis 1907 Nettleship 1 1915-16 Leber 1 1924 Hine 1 1926 Rossi 1 1926 Shoji 1 1

choice to try a new potent medication once a day instead of his current 2 medications, the patient elected to try travoprost once daily beginning on January 3. Two days later, he called complaining of mild redness, discomfort, andblurriness.Hewasadvised of an adjustment period with this eyedrop and told to call back if symptoms did not improve. His symptoms worsened, and by January 8, his visua...