Arcus Senilis
Lentigo
Hyperpigmentation
Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. (1/15)
In the present study, we report a kindred with hearing loss, congenital heart defects, and posterior embryotoxon, segregating as autosomal dominant traits. Six of seven available affected patients manifested mild-to-severe combined hearing loss, predominantly affecting middle frequencies. Two patients were diagnosed with vestibular pathology. All patients had congenital heart defects, including tetralogy of Fallot, ventricular septal defect, or isolated peripheral pulmonic stenosis. No individual in this family met diagnostic criteria for any previously described clinical syndrome. A candidate-gene approach was undertaken and culminated in the identification of a novel Jagged 1 (JAG1) missense mutation (C234Y) in the first cysteine of the first epidermal-growth-factor-like repeat domain of the protein. JAG1 is a cell-surface ligand in the Notch signaling pathway. Mutations in JAG1 have been identified in patients with Alagille syndrome. Our findings revealed a unique phenotype with highly penetrant deafness, posterior embryotoxon, and congenital heart defects but with variable expressivity in a large kindred, which demonstrates that mutation in JAG1 can cause hearing loss. (+info)Serum lipid parameters and the prevalence of corneal arcus in a dyslipidaemic patient population. (2/15)
AIM: To determine whether an association exists between plasma lipoprotein constituents and the prevalence of corneal arcus in dyslipidaemic patients. METHODS: Adult patients (n = 115) were included if their fasting total serum cholesterol concentrations exceeded the 95th percentile or their serum low-density lipoprotein (LDL) : high density lipoprotein (HDL) ratios exceeded 5. Slit-lamp assessment of the corneas was performed. RESULTS: The study group divided into a subgroup with arcus 37% (43) and a subgroup without arcus 63% (72). Total serum cholesterol and triglyceride levels were not associated with corneal arcus. A significant difference was found (p < 0.05) between the mean levels of LDL cholesterol (LDL-C) in the group without arcus (5.61 +/- 1.74 mmol/l) and the group with arcus (5.96 +/- 1.71 mmol/l). The mean serum HDL-cholesterol (HDL-C) in the group with corneal arcus was 1.04 +/- 0.30 mmol/l as opposed to 1.31 +/- 0.38 mmol/l in the group without arcus (p < 0.005 for difference). The mean LDL-C : HDL-C ratio in the group without arcus was 4.28 (SD: 1.99), and 5.73 (SD: 2.09) in the group with a corneal arcus (p < 0.05). CONCLUSIONS: Low HDL-C levels, high LDL-C levels and LDL-C : HDL-C ratios > 5 have been implicated as risk factors of numerous circulatory diseases. The observations in this study suggest that the presence of corneal arcus in the dyslipidaemic patient correlates strongly with these same risk indicators. (+info)Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy. (3/15)
PURPOSE: Schnyder crystalline corneal dystrophy (SCCD; MIM 121800) is a rare autosomal dominant disease characterized by an abnormal increase in cholesterol and phospholipid deposition in the cornea, leading to progressive corneal opacification. Although SCCD has been mapped to a genetic interval between markers D1S1160 and D1S1635, reclassification of a previously unaffected individual expanded the interval to D1S2667 and included nine additional genes. Three candidate genes that may be involved in lipid metabolism and/or are expressed in the cornea were analyzed. METHODS: DNA samples were obtained from six families with clinically confirmed SCCD. Analysis of FRAP1, ANGPTL7, and UBIAD1 was performed by PCR-based DNA sequencing, to examine protein-coding regions, RNA splice junctions, and 5' untranslated region (UTR) exons. RESULTS: No disease-causing mutations were found in the FRAP1 or ANGPTL7 gene. A mutation in UBIAD1 was identified in all six families: Five families had the same N102S mutation, and one family had a G177R mutation. Predictions of the protein structure indicated that a prenyl-transferase domain and several transmembrane helices are affected by these mutations. Each mutation cosegregated with the disease in four families with DNA samples from both affected and unaffected individuals. Mutations were not observed in 100 control DNA samples (200 chromosomes). CONCLUSIONS: Nonsynonymous mutations in the UBIAD1 gene were detected in six SCCD families, and a potential mutation hot spot was observed at amino acid N102. The mutations are expected to interfere with the function of the UBIAD1 protein, since they are located in highly conserved and structurally important domains. (+info)Correlating corneal arcus with atherosclerosis in familial hypercholesterolemia. (4/15)
(+info)Relation of corneal arcus to cardiovascular disease (from the Framingham Heart Study data set). (5/15)
(+info)Skin manifestations in familial heterozygous hypercholesterolemia. (6/15)
Familial hypercholesterolemia, a form of primary hyperlipoproteinemia, is an autosomal dominant disorder characterized by an increase in serum LDL cholesterol concentrations. Multiple types of xanthomas occur, such as tendinous, tuberous, subperiosteal, and xanthelasma. Intertriginous xanthomas are rare, but if present are pathognomonic in this disorder. We report a patient with multiple xanthomas including the very rare intertriginous variety. (+info)Xanthelasmata, arcus corneae, and ischaemic vascular disease and death in general population: prospective cohort study. (7/15)
(+info)Corneal arcus and its associations with ocular and general parameters: the Central India Eye and Medical Study. (8/15)
(+info)Arcus senilis is a medical term that refers to the gray or white discoloration that forms around the outer edge (periphery) of the cornea, which is the clear, dome-shaped surface at the front of the eye. This condition is caused by the accumulation of cholesterol and other lipids in the corneal tissue, and it is more commonly seen in older adults over the age of 60.
Arcus senilis itself does not typically affect vision or cause any symptoms, but it can be a sign of underlying health issues such as high cholesterol levels or coronary artery disease. In some cases, the presence of arcus senilis may prompt doctors to recommend further testing to assess the patient's cardiovascular health.
It is important to note that arcus senilis should not be confused with arcus juvenilis, which is a similar condition that affects younger people and can be a sign of high cholesterol levels or other medical issues.
A lentigo is a small, sharply defined, pigmented macule (flat spot) on the skin. It's usually tan, brown, or black and can appear on various parts of the body, particularly where the skin has been exposed to the sun. Lentigos are typically harmless and don't require treatment unless they're uncomfortable or for cosmetic reasons. However, some types of lentigines, such as lentigo maligna, can progress into melanoma, a type of skin cancer, so regular self-examinations and professional skin checks are important.
It is essential to differentiate between simple lentigos and lentigo maligna, which is a precancerous lesion. Lentigo maligna tends to occur in older individuals, often on the face, and can appear as a large, irregularly shaped, and darkly pigmented patch. A dermatologist should evaluate any suspicious or changing skin spots for proper diagnosis and treatment.
Hyperpigmentation is a medical term that refers to the darkening of skin areas due to an increase in melanin, the pigment that provides color to our skin. This condition can affect people of all races and ethnicities, but it's more noticeable in those with lighter skin tones.
Hyperpigmentation can be caused by various factors, including excessive sun exposure, hormonal changes (such as during pregnancy), inflammation, certain medications, and underlying medical conditions like Addison's disease or hemochromatosis. It can also result from skin injuries, such as cuts, burns, or acne, which leave dark spots known as post-inflammatory hyperpigmentation.
There are several types of hyperpigmentation, including:
1. Melasma: This is a common form of hyperpigmentation that typically appears as symmetrical, blotchy patches on the face, particularly the forehead, cheeks, and upper lip. It's often triggered by hormonal changes, such as those experienced during pregnancy or while taking birth control pills.
2. Solar lentigos (age spots or liver spots): These are small, darkened areas of skin that appear due to prolonged sun exposure over time. They typically occur on the face, hands, arms, and decolletage.
3. Post-inflammatory hyperpigmentation: This type of hyperpigmentation occurs when an injury or inflammation heals, leaving behind a darkened area of skin. It's more common in people with darker skin tones.
Treatment for hyperpigmentation depends on the underlying cause and may include topical creams, chemical peels, laser therapy, or microdermabrasion. Preventing further sun damage is crucial to managing hyperpigmentation, so wearing sunscreen with a high SPF and protective clothing is recommended.