Linear and Whorled Nevoid Hypermelanosis and Axenfeld-Rieger Anomaly: A Novel Association

Linear and whorled nevoid hypermelanosis and Axenfeld-Rieger anomaly: a novel association.

Linear and whorled nevoid hypermelanosis with hemiatrophy.

FIG. 1 Linear and Whorled Nevoid Hypermelanosis: Linear and whorled hyperpigmented macules in a reticulate pattern along the Blaschko’s lines over trunk and limbs. A two-years-old boy presented with abnormal body pigmentation and body asymmetry noted since birth. A preceding vesicular eruption was absent. He was developmentally normal. Family history was insignificant. Examination revealed line...

Linear and whorled nevoid hypermelanosis in three successive generations.

Sir, Linear and whorled nevoid hypermelanosis (LWNH) is characterized by hyperpigmented macules in a streaky configuration along the lines of Blaschko, without preceding inflammation or atrophy.[1-3] Lesions are distributed mainly on the trunk and extremities, sparing palms, soles, and mucosae. The usual age of the onset of hyperpigmentation occurs within the first few weeks of life, continues ...

Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.

PURPOSE To determine the possible molecular genetic defect underlying Axenfeld-Rieger anomaly (ARA) and to identify the pathogenic mutation causing this anterior segment dysgenesis in an Indian pedigree. METHODS The FOXC1 gene was amplified from genomic DNA of members of an ARA-affected family and control subjects using four novel sets of primers. The amplicons were directly sequenced, and th...

Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation

PURPOSE To evaluate the asymmetry of the anterior segment phenotype between the two eyes of a patient with Axenfeld-Rieger syndrome (ARS). METHODS The entire database of a tertiary glaucoma practice was screened for patients with ARS. The medical records of patients with ARS were reviewed. The clinical characteristics of ocular examination of the two eyes of each patient were recorded and com...