Plexiform neurofibroma overlying giant café-au-lait macule

Orbital neurilemmoma with café-au-lait pigmentation of the skin.

Examination.-The left eye was normal with visual acuity 6/12. The right eye showed proptosis 20 mm. (left 15 mm.), and deviated outwards with limitation of ocular movements inwards. The fundus showed optic atrophy and the visual acuity was hand movements. A firm mass was felt in the inner side of the orbit extending backwards. Surgery.-Through a medial fomix conjunctival incision the tumour was...

A child with axillary freckling and café au lait spots.

Pulmonary stenosis, café-au-lait spots, and dull intelligence.

Of the many abnormalities that have been reported in association with multiple caf&-au-lait spots, congenital cardiac anomalies are extremely rare. The purpose of this paper is to report three families in which there were children with pulmonary valvular stenosis, who were mentally dull and also had cafe-au-lait spots inherited as an autosomal dominant, as in von Recklinghausen's disease (VRD)....

Genetic Modifiers of Neurofibromatosis Type 1-Associated Café-au-Lait Macule Count Identified Using Multi-platform Analysis

Neurofibromatosis type 1 (NF1) is an autosomal dominant, monogenic disorder of dysregulated neurocutaneous tissue growth. Pleiotropy, variable expressivity and few NF1 genotype-phenotype correlates limit clinical prognostication in NF1. Phenotype complexity in NF1 is hypothesized to derive in part from genetic modifiers unlinked to the NF1 locus. In this study, we hypothesized that normal varia...

Diagnostic value of the café-au-lait spot in children.

The significance of the cafe-au-lait spot in the diagnosis of certain disorders of childhood is still not as widely appreciated as it should be, partly due to lack of information as to the normal incidence of such pigmentation, and partly to confusion over its relation to other forms of congenital pigmentation. The varieties of congenital melanin pigmentation of the skin consist of a number of ...