Aging results from intrinsic changes (chronologic) and damage from external exposures (extrinsic) on the human body. The skin is ideal to visually differentiate their unique features. Inherited diseases of DNA repair, such as xeroderma pigmentosum (XP), provide an excellent model for human aging due to the accelerated accumulation of DNA damage. Poikiloderma, atypical lentigines, and skin cancers, the primary cutaneous features of XP, occur in the general population but at a much older age. Patients with XP also exhibit ocular changes secondary to premature photoaging, including ocular surface tumors and pterygium. Internal manifestations of premature aging, including peripheral neuropathy, progressive sensorineural hearing loss, and neurodegeneration, are reported in 25% of patients with XP. Internal malignancies, such as lung cancer, CNS tumors, and leukemia and/or lymphoma, occur at a younger age in patients with XP, as do thyroid nodules. Premature ovarian failure is overrepresented among females with XP, occurring 20 years earlier than in the general population. Taken together, these clinical findings highlight the importance of DNA repair in maintaining genomic integrity. XP is a unique model of human premature aging, which is revealing new insights into aging mechanisms.

Palmo-plantar lesions in discoid lupus erythematosus (DLE) can be considered a very distinct rarity, generally refractory to conventional treatments. We present a 47-year-old African female patient with a 6-month clinical history of palm and soles erosions. Clinical examination revealed painful multiple, well defined, erosions with an erythematous and scaly central area and peripherical post-inflammatory hyperchromic border bilaterally distributed on the palmo-plantar surfaces. Pterygium inversum unguis involved all nails of both hands. Histological analysis and direct immunofluorescence study confirmed palmo-plantar DLE. Therapy with mycophenolate mofetil (MMF) was initiated with a progressive clearing of palmo-plantar lesions and a drastic reduction of pain. Therapy was well tolerated, neither side effects nor altered laboratory investigations were observed. Our case and literature review confirm that MMF may be an effective approach for the management of refractory palmo-plantar DLE with a safer profile than Azathioprine regarding adverse effects and cutaneous malignancies risk.

The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant hyperthermia were first identified in 1991. Since then, RYR1-related myopathies (RYR1-RM) have been described as rare, histopathologically and clinically heterogeneous, and slowly progressive neuromuscular disorders. RYR1 variants can lead to dysfunctional RyR1-mediated calcium release, malignant hyperthermia susceptibility, elevated oxidative stress, deleterious post-translational modifications, and decreased RyR1 expression. RYR1-RM-affected individuals can present with delayed motor milestones, contractures, scoliosis, ophthalmoplegia, and respiratory insufficiency.Historically, RYR1-RM-affected individuals were diagnosed based on morphologic features observed in muscle biopsies including central cores, cores and rods, central nuclei, fiber type disproportion, and multi-minicores. However, these histopathologic features are not always specific to RYR1-RM and often change over time. As additional phenotypes were associated with RYR1 variations (including King-Denborough syndrome, exercise-induced rhabdomyolysis, lethal multiple pterygium syndrome, adult-onset distal myopathy, atypical periodic paralysis with or without myalgia, mild calf-predominant myopathy, and dusty core disease) the overlap among diagnostic categories is ever increasing. With the continuing emergence of new clinical subtypes along the RYR1 disease spectrum and reports of adult-onset phenotypes, nuanced nomenclatures have been reported (RYR1- [related, related congenital, congenital] myopathies). In this narrative review, we provide historical highlights of RYR1 research, accounts of the main diagnostic disease subtypes and propose RYR1-related disorders (RYR1-RD) as a unified nomenclature to describe this complex and evolving disease spectrum.

The review article focuses on free radicals and oxidative stress involved in ophthalmological diseases such as retinopathy, cataract, glaucoma, etc. Oxidative stress is considered as a key factor involved in the pathology of many chronic diseases including ophthalmic complication and inflammatory process. Oxidative stress and inflammation are closely related pathophysiological processes and are simultaneously found in many pathological conditions. The free radicals produced oxidize cellular components such as lipids and phospholipids leading to lipid peroxidation and trigger the onset of retinopathy. Cataract is a significant cause of visual disability and it is proposed that the high incidence is related to oxidative stress induced by continued intraocular penetration of light and consequent photochemical generation of free radical oxidants. Glaucoma is the leading cause of irreversible blindness and comprises a group of diseases characterized by progressive optic nerve degeneration. Oxidative injury and altered antioxidant defense mechanisms in glaucoma appear to play a role in the pathophysiology of glaucomatous neurodegeneration that is characterized by death of retinal ganglion cells. The UVB radiations through this way may cause a number of diseases like photo-keratitis, pterygium, damage to epithelium, edema, and corneal cell apoptosis.Abbreviations: ROS: reactive oxygen species; RNS: reactive nitrogen species; O2.: superoxide anion; H2O2: hydrogen peroxide;. OH: hydroxyl radicals; ONOO-, ONO2-: peroxynitrite; NO: nitric oxide; IOP: intraocular pressure; RGC: retinal ganglion cells. WHO: World Health Organization; IAPB: International Agency for the Prevention of Blindness.

Two of the most common UV-induced eye affections are pterygium and cataract. They are both defined as progressive diseases that impair patients' vision and share some common elements in their evolution process. The purpose of this study was to determine whether the presence of cataract influences the clinical signs and symptoms of patients with pterygium. Therefore, we have analyzed 84 patients with pterygium, among which 23 also presented cataract, as an overall study lot, as well as divided by age decades. We have determined that almost all patients with both pterygium and cataract declared extensive UV exposure in antecedents and have also reported a blurred vision. We found no correlation between the presence of cataract and the size of pterygium lesions, or symptoms like foreign body sensation, tearing or symblepharon.

Inflammation is considered to be critical in the pterygium progression and recurrence. However, the underlying molecular mechanism is not well understood. Herein, we investigated the potential role of RNA binding protein human antigen R (HuR) responsible for the impact of inflammation on pterygium development. The expression of HuR and matrix metallopeptidase-9 (MMP-9) in pterygium and normal conjunctiva was detected with immunohistochemistry and quantitative reverse transcription polymerase chain reaction (qRT-PCR). The influence of interleukin-1β (IL-1β) on HuR expression and cellular distribution was determined with western blot and immunofluorescence. The pterygium fibroblast (PTF) migration was determined with scratch wound healing assay and Transwell migration assay. MMP-9 production was determined with qRT-PCR and gelatin zymography. The interaction between HuR and MMP-9 was investigated with RNP immunoprecipitation (IP) followed by RT-PCR and messenger RNA (mRNA) stability analysis. HuR and MMP-9 expression are elevated in pterygium, especially progressive pterygium compared with normal conjunctiva. IL-1β could increase the expression and nucleus-cytoplasm shuttle of HuR in cultured PTFs. HuR mediated the stimulatory effect of IL-1β on PTF migration and MMP-9 production. HuR bound to MMP-9 mRNA and in turn increased it stability. Our results suggest that posttranscriptional regulation of MMP-9 via stabilizing mRNA by HuR might contribute to the stimulatory effect of inflammatory factor IL-1β on pterygium progression. These findings shed light on the pathogenesis of pterygium and provide a promising target for adjuvant treatment of pterygium.

Pterygium is a degenerative condition characterized by fibrovascular outgrowth of conjunctiva over the cornea. Many theories exist that try to explain its pathogenesis. The current belief is that this disease is multifactorial with ultraviolet radiation being the most important trigger. Attention is also paid to such factors as tear film changes, cytokines and growth factors disbalance, immunologic disturbances, genetic mutations, and viral infections. Modern classifications consider the rate of fibrovascular growth, its progressive potential, and histological features. In the beginning pterygium is usually asymptomatic, however, dry eye manifestations may be present, such as burning, itching, and/or tearing. As the lesion grows toward the optical zone, visual acuity gets compromised, and thus, surgical treatment is required. Because of recurrences and repeated surgeries, the growth of the lesion may become more aggressive and cause irregular astigmatism. Comprehensive surgery of pterygium is aimed at not only removing the lesion, but also preventing recurrences. Advisable are modified bare sclera techniques with subsequent transposition of the conjunctival flap, conjunctival autotransplantation, amniotic membrane transplantation, and peripheral lamellar keratoplasty (in cases of significant ingrowth). In some cases, antirecurrent adjuvant therapy may be considered that involves the use of mitomycin C, 5-fluoruracil, and VEGF inhibitors. However, the search for the best treatment for pterygium, i.e. an easy to perform, cosmetically-friendly method associated with minimal risk of recurrences and/or complications, remains an interest of modern ophthalmology.

Pterygium is a very common disease in an eye clinic characterized by a benign proliferation of local conjunctiva that often crosses the limber of cornea and extends into corneal surface. Variety of studies has showed that pterygium is able to result in ocular discomfort and the change of ocular surface environment, such as dry eye. However, the link between abnormal tear film function and pterygium is controversial. Meibomian gland dysfunction (MGD) is a common cause of dry eye and ocular discomfort but is often neglected, which may be the missing link between dry eye and pterygium. In this study, our data firstly revealed increased abnormality of meibomian gland structure and function in pterygium patients, representing with increased abnormality of MGD parameters such as meibum expression (P < 0.001) and meibomian gland loss (P < 0.001). Besides, the scores of MGD severity in patients with progressive pterygium were higher than those in patients with resting pterygium. The correlation between MGD parameters and ocular discomfort as well as dry eye indexes is also established. These findings suggest that MGD correlates to the tear film instability and ocular discomfort in patients with pterygium.

Escobar (multiple pterygium) syndrome is progressive and a very rare syndrome. It is generally characterized by multiple pterygia that are found in the cervical, antecubital and popliteal regions. In this report, we present the treatment management of a 14-year-old case with late stage Escobar syndrome who was admitted due to multiple pterygia and bilateral knee contractures. The treatment of this case was conducted in collaboration with the department of orthopedics and the department of physical therapy. The treatment of the case was done in three stages: soft tissue procedures, femoral recurvatum osteotomy and triple arthrodesis, respectively. In addition to all these, the patient did intensive physical therapy for one year. As a result of the operations and physical therapy, adequate muscle strength was obtained.

The objective of this case was to report unilateral tilted disc in a boy with ipsilateral keratoconus. The tilted disc syndrome is a non-hereditary bilateral condition. This configuration is accompanied by situs inversus of the retinal vessels, congenital inferonasal conus, thinning of the inferonasal retinal pigment epithelium and choroid, and myopic astigmatism. Unilateral tilted disc syndrome is a rare condition. Keratoconus is a disorder characterised by progressive corneal steepening. The author present a case of unilateral tilted disc in a boy with ipsilateral keratoconus. Pterygium is a common disorder and tilted disc syndrome is a bilateral condition. But unilateral tilted disc in a boy with ipsilateral keratoconus is the first report in literature. Due to these clinical presentation, this report is an exception in literature and reported an unknown clinical coincident.

Various treatment options are in use to address severe knee flexion contractures in children. Their success depends on an adequate selection of the proper one applying to each individual anatomical situation.

We examined the clinical, molecular and genetic features of a 16-year-old boy (XP2GO) with xeroderma pigmentosum (XP) and progressive neurological symptoms. The parents are not consanguineous. Increased sun sensitivity led to the diagnosis of XP at 2 years of age and a strict UV protection scheme was implemented. Besides recurrent conjunctivitis and bilateral pterygium, only mild freckling was present on his lips. He shows absent deep tendon reflexes, progressive sensorineural deafness and progressive mental retardation. MRI shows diffuse frontal cerebral atrophy and dilated ventricles. Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent. XP2GO fibroblasts showed reduced post-UV cell survival (D(37) = 3.8 J/m(2)), reduced nucleotide excision repair, reduced expression of XPD mRNA and an undetectable level of XPD protein. Mutational analysis of the XPD gene in XP2GO revealed two different mutations: a common p.Arg683Trp amino acid change (c.2047C>T) known to be associated with XP and a novel frameshift mutation c.2009delG (p.Gly670Alafs*39). The latter mutation potentially behaves as a null allele. While not preventing neurological degeneration, early diagnosis and rigorous sun protection can result in minimal skin disease without cancer in XP patients.

A total of 60 eyes with primary progressive pterygium were selected. They were randomly divided into two groups ie, group A and group B each consisting of 30 eyes. Group A patients were treated with pteryglum excision with ipsilateral conjunctival-limbal autografting. Group B patients were treated with pterygium excision followed by mitomycin C 0.02% for two minutes. Both groups were followed up for one year postoperatively to document recurrence rates and postoperative complications. In group A recurrence rate was 3.0% with minimal ocular complication after one year follow-up. But in group B recurrence rate was high as 10.0% and ocular complications were significant after the same period of postoperative follow-up. Both conjunctival-limbal autograft and intra-operative mitomycin use are effective method of surgical treatment of pterygium but considering the rate of recurrence and other postoperative ocular morbidity conjunctival-limbal autografting seems to be the best method of pterygium treatment.