A bstract A 21‐year‐old febrile lady presented to the emergency service with severe lid oedema, conjunctivitis, dry mouth and abdominal skin rash. Over 5 days, she developed silvery scales and pustules on the lids, and generalized pustules on an erythematous base. Multiple focal sterile corneal infiltrates were seen. Haematological investigations and a skin biopsy were done as the consulting dermatologist suspected acute generalized pustular psoriasis. In addition, secondary Sjögren's syndrome was diagnosed since she had keratoconjunctivitis sicca, xerostomia, raised erythrocyte sedimentation rate and positive antinuclear antibodies. The presence of microabscesses in the epidermis on skin biopsy confirmed the diagnosis of pustular psoriasis. With oral methotrexate 7.5 mg weekly and topical corticosteroids, the acute condition gradually resolved; however, the keratoconjunctivitis sicca is persisting. Secondary Sjögren's syndrome associated with acute generalized pustular psoriasis and ocular psoriasis is extremely rare. Awareness of the ocular and dermatological features of these two conditions would result in earlier diagnosis and institution of appropriate treatment.
Autosomal recessive congenital hereditary endothelial dystrophy (AR-CHED or CHED2) is a bilateral corneal disorder manifesting at birth or in early childhood. CHED2 is caused by mutations in the sodium bicarbonate transporter-like solute carrier family 4 member 11 (SLC4A11) gene on chromosome 20p13. We screened 42 unrelated families with CHED2 in order to establish the spectrum of mutations in SLC4A11 and to look for genotype-phenotype correlations.Forty-two families (49 affected and 73 unaffected members) with recessive CHED were recruited according to predefined diagnostic criteria. Clinical data including age at onset and presentation, pre- and post-operative visual acuities, and presence of nystagmus were taken from patient records. Histopathologic parameters such as corneal thickness, Descemet membrane thickness, and endothelial cell counts were assessed on corneal sections. DNA from patients was screened for sequence changes by polymerase chain reaction (PCR)-amplification of coding regions of SLC4A11 and single strand conformation polymorphism analysis followed by sequencing. Sequence changes found were tested in 50 unrelated normal controls.Twenty-seven different mutations were identified in 35 unrelated families, 19 of which were not previously reported. The mutations identified consisted of 13 missense, 5 nonsense, 7 deletions, 1 complex (deletion plus insertion) mutation, and 1 splice site mutation. Both mutant alleles were identified in 33 families and only one mutant allele in two families. No correlations were evident between clinical or histopathologic parameters and SLC4A11 mutations.These data add to the mutational repertoire of SLC4A11 and establish the high degree of mutational heterogeneity in autosomal recessive CHED.
<h4>ABSTRACT</h4> <p>A 6-year-old girl had total hyphema and elevated left intraocular pressure following trivial trauma. B-scan with vector A-scan revealed vitreous opacities consistent with hemorrhage. The drained hyphema did not recur. A left vascular conjunctival mass and massive cervical lymphadenopathy occurred 7 months later. Biopsy revealed extraocular retinoblastoma and lymph node metastasis. Computed tomography showed an intraocular mass with intracranial extension. She died of metastatic disease despite intensive chemotherapy. Retinoblastoma should be suspected in a child with hyphema following trivial trauma.</p> <p><cite>J Pediatr Ophthalmol Strabismus</cite> 2007;44:120-123.</p> <h4>AUTHORS</h4> <p>Drs. Murthy, Honavar, Naik, and Reddy are from the Ocular Oncology Service and Dr. Vemuganti is from the Ocular Pathology Service, LV Prasad Eye Institute, Hyderabad, India.</p> <p>Originally submitted January 21, 2005.</p> <p>Accepted for publication January 12, 2006.</p> <p>Address correspondence to Santosh G. Honavar, MD, FACS, Ocular Oncology Service, LV Prasad Eye Institute, LV Prasad Marg, Banjara Hills, Hyderabad 500 034, India.</p> <p>Presented at the XI International Congress of Ocular Oncology; January 2004; Hyderabad, India.</p>
To determine the immunophenotypes of macular corneal dystrophy (MCD) in Indian patients and to correlate them with mutations in the carbohydrate 6-sulfotransferase (CHST6) gene.Sixty-four patients from 53 families with MCD that were previously screened for mutations in CHST6 were included in an immunophenotype analysis. Antigenic keratan sulfate (AgKS) in serum as well as corneal tissue was evaluated in 31 families. Only cornea was evaluated in 11 families, and only serum was evaluated in 11 families. AgKS was detected in formalin-fixed, paraffin-embedded corneal sections by immunohistochemistry and in serum by ELISA using a monoclonal antibody against sulfated forms of KS in patients with MCD as well as normal controls.Analysis of corneal and/or serum AgKS disclosed MCD type I (27 families), MCD type IA (5 families), and MCD type II (3 families) in the cases studied. An additional 10 families were either MCD type I or MCD type IA since only serum AgKS data were available. Seven families manifested atypical immunophenotypes since the corneal AgKS expression was either of MCD type I or MCD type IA, but serum AgKS levels ranged from 19 ng/ml to 388 ng/ml. More than one immunophenotype was detected amongst siblings in two families. Each immunophenotype was associated with mutational heterogeneity in CHST6.MCD type I was the predominant immunophenotype in the Indian population studied followed by MCD type IA and then MCD type II. We detected further immunophenotypic heterogeneity by finding atypical patterns of AgKS reactivity in a subset of families. There were no simple correlations between immunophenotypes and specific mutations in CHST6, suggesting that factors other than CHST6 mutations may be contributing to the immunophenotypes in MCD.
Abstract Background We highlight the orbital manifestations of acute myeloid leukemia and the role of peripheral blood smear in the diagnosis of these cases. A total of 12 patients who presented with proptosis and were subsequently diagnosed to have acute myeloid leukemia based on incision biopsy or peripheral blood smear were included in the study. Results A retrospective review of all cases of acute myeloid leukemia presenting to the Orbital clinic was performed. The age at presentation, gender, presenting features, duration of symptoms and fundus features were noted. In addition the temporal relationship of the orbital disease to the diagnosis of leukemia, laterality, location of the orbital mass, imaging features and the diagnostic tools used to diagnose leukemia were noted. The median age at presentation was 6 years. The male: female ratio was 0.7:1. None of these patients had been diagnosed earlier as having acute myeloid leukemia. The presenting features included proptosis in all patients, orbital mass in 5 (41.7%), visual symptoms in 2 (16.7%) and subconjunctival hemorrhage in one patient (8.3%). A diagnosis of acute myeloid leukemia was established by incision biopsy in 4 patients, subsequently confirmed by peripheral blood smear testing and bone marrow biopsy in 2 patients which revealed the presence of systemic involvement. Imprint smears of the biopsy identified blasts in 2 of 4 cases. In 8 patients presenting with ocular manifestations, diagnosis was established by peripheral blood smear examination alone which revealed a diagnosis of acute myeloid leukemia. Conclusion A peripheral blood smear should be performed in all cases of sudden onset proptosis or an orbital mass in children and young adults along with an orbital biopsy. It can always be complemented with a bone marrow biopsy especially in cases of aleukemic leukemia or when the blood smear is inconclusive.
'%3e%3ccircle r='20' fill='%23008'/%3e%3ccircle r='17.5' fill='%23fff'/%3e%3ccircle r='3.5' fill='%23008'/%3e%3cg id='d'%3e%3cg id='c'%3e%3cg id='b'%3e%3cg id='a' fill='%23008'%3e%3ccircle r='.875' transform='rotate(7.5 -8.75 133.5)'/%3e%3cpath d='M0 17.5.6 7 0 2l-.6 5L0 17.5z'/%3e%3c/g%3e%3cuse xlink:href='%23a' transform='rotate(15)'/%3e%3c/g%3e%3cuse xlink:href='%23b' transform='rotate(30)'/%3e%3c/g%3e%3cuse xlink:href='%23c' transform='rotate(60)'/%3e%3c/g%3e%3cuse xlink:href='%23d' transform='rotate(120)'/%3e%3cuse xlink:href='%23d' transform='rotate(-120)'/%3e%3c/g%3e%3c/svg%3e)
'%3e%3cpath fill='%23012169' d='M0 0v30h60V0z'/%3e%3cpath stroke='%23fff' stroke-width='6' d='m0 0 60 30m0-30L0 30'/%3e%3cpath stroke='%23C8102E' stroke-width='4' d='m0 0 60 30m0-30L0 30' clip-path='url(%23b)'/%3e%3cpath stroke='%23fff' stroke-width='10' d='M30 0v30M0 15h60'/%3e%3cpath stroke='%23C8102E' stroke-width='6' d='M30 0v30M0 15h60'/%3e%3c/g%3e%3c/svg%3e)