An Unusual Case of Blepharochalasis

To establish differences between the frequency of suspected deprivation myopia in unilateral and bilateral congenital ptosis with and without covered optical axis. Ametropia was evaluated in both eyes of 95 patients with congenital ptosis. The amount of refraction was documented as spherical equivalent (100% cycloplegia). Statistical analysis was performed using the chi-square and sign tests. In unilateral ptosis, the frequency of myopia was lower (10/68: 15%) than that of hyperopia (58/68: 85%) in the ptotic eye (P <0.001). However, myopia occurred more often in the ptotic eye (10/68: 15%) than in the fellow eye (3/68: 4.4%). Myopic anisometropia was found only in the ptotic eye (5/68 vs 0/68), but was less frequent than hyperopic anisometropia (6/68 vs 8/68). In bilateral ptosis 7/54 myopia as compared with 47/54 hyperopia were observed and 1/27 myopic anisometropia vs 6/27 hyperopic anisometropia. Covered center of the pupil, in children < or = 8 years of age, was associated with myopia more frequently in bilateral than in unilateral ptosis (6/30 vs 1/27). We found a significantly higher rate of myopia <-1 diopter and hyperopia >2 diopter in comparison of children 5 to 7 years old with first-grade school children. Two expected results were (1) compared with the normal population, an overall higher frequency of myopia in human congenital ptosis; (2) in unilateral ptosis, a higher frequency of myopia in the ptotic, than in the fellow eye.

Bilateral eyelid ptosis presents a rare and diagnostically challenging clinical scenario, particularly when accompanied by multiple intracranial lesions. We present the case of a 68-year-old woman with bilateral ptosis, vertical diplopia, and progressive confusion. Imaging revealed a dorsal midbrain lesion and bilateral frontal lobe masses. Clinical examination ruled out common causes of ptosis, such as myasthenia gravis and muscular dystrophies. The patient’s constellation of symptoms, bilateral ptosis without pupillary involvement and vertical diplopia, localized the lesion to the midbrain rather than the cortex. This case highlights the importance of integrating clinical examination with neuroimaging to refine localization in challenging presentations of cranial nerve pathology.

Purpose To report the ocurrence of an unilateral ptosis in a 2‐year‐old girl treated by vincristine for a vaginal rhabdomyosarcoma.Methods Our young patient developed a vaginal rhabdomyosarcoma and had been treated by chemotherapy (Ifosfamide‐Vincristine‐Actinomycine) when an unilateral ptosis occurred 7 days after the fifth vincristine dose (1.5 mg/m2). At that time, cumulative vincristine dose was 4.50 mg. Neither oculomotor dysfunction nor anisocoria were present. Neurological and systemic examinations were otherwise unremarkable. Laboratory testing and thoracic‐cervical‐cranial scan were normal. Other causes of ptosis were excluded. Despite vincristine dose was reduced by a third, ptosis slightly increased after the 2 subsequent injections but decreased between cures. Ptosis disappeared at day 78 and no recurrence was noticed after the treatment continuation at the same dose.Results Neurotoxicity is a well‐known complication of vincaalkaloids. Bilateral ptosis is relatively common but reported cases of vincristine‐induced unilateral ptosis are infrequent. In our young patient, occurrence of the ptosis during treatment, increase during new infusions of vincristine and exclusion of other aetiologies are forceful arguments to consider the role of vincristine in this side effect. The use of pyridoxine or pyridostigmine were suggested to treat vincristine‐induced cranial neuropathies but to date, the benefit remains unproved. Adaptation of treatment regimen must be done. In our case dose reduction allowed disappearance of the ptosis.Conclusion Even if unilateral ptosis is rare among vincristine‐induced neurological complications, ophthalmologists must be aware of this diagnosis.

Pachydermoperiostosis is a rare hereditary disorder that is characterised by pachydermia (thickening of the facial skin and/or scalp), and periostosis (swelling of the periarticular tissue and a subperiosteal new bone formation). Other associated features are arthralgia, polyarthritis, clubbing, seborrhoea, hyperhidrosis, hypertrophic gastropathy, peptic ulcer and gyanecomastia. Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common association. We are hereby reporting a patient with a complete form of Pachydermoperiostosis, wherein the presenting feature was bilateral ptosis.

Blepharoptosis Induced by Prolonged Hard Contact Lens Wear

Spontaneous subperiosteal orbital hemorrhage is rare. The authors describe a case of acute bilateral eyelid swelling, eyelid ptosis, and double vision in a patient immediately following endoscopic retrograde cholangiopancreatography. CT revealed bilateral subperiosteal orbital hemorrhages. The patient demonstrated no signs of optic nerve compromise, and the hemorrhages resolved spontaneously without sequela. Previous reports in the literature have documented subperiosteal hemorrhages following increased intracranial venous pressure, coagulopathies, and prone positioning during procedures. To the authors' knowledge, subperiosteal orbital hemorrhages have not been previously described following endoscopic retrograde cholangiopancreatography. Ophthalmologists and gastroenterologists should be aware of this potential complication associated with this procedure.

Horner's syndrome is a rare condition that results from damage to the oculosympathetic chain. The classical presentation consists of miosis, unilateral ptosis and hemifacial anhidrosis due to a deficiency of sympathetic activity. Although it has been described as a result of different types of trauma, we present the first clinical report of Horner's syndrome that was developed after a fine-needle aspiration puncture of a thyroid nodule. A 48-year-old woman with a non-toxic multinodular goiter underwent an ultrasound-guided fine-needle aspiration for the second time for a nodule located at the right thyroid lobe. Four hours after the procedure, she developed homolateral eyelid ptosis, miosis and enophthalmos and went to the emergency department for observation. Structural causes potentially related to the manifestations were excluded. Horner's syndrome was diagnosed and the patient was discharged with symptomatic measures. Three months after the event, the patient reported partial improvement. We discuss the pathophysiology associated with Horner's syndrome, the association with thyroid diagnostic and therapeutic procedures, clinical presentation, patient management and prognosis. Although fine-needle aspiration of a thyroid nodule has few associated complications, Horner's syndrome should be considered when the patient develops ophthalmologic symptoms. Preventive measures should be observed to minimize its occurrence. Horner's syndrome is a potential complication of diagnostic and therapeutic procedures directed at the thyroid gland, including ultrasound-guided fine-needle aspiration. It is characterized by eyelid ptosis, miosis, enophthalmos and anhidrosis homolateral to the lesion. The diagnosis of Horner's syndrome is clinical after excluding structural causes and establishing the temporal relationship between the procedure and the manifestations. There is no targeted treatment for Horner's syndrome, but it can be prevented.

Topiramate‐Induced Unilateral Ptosis

The prevalence of ptosis in an Iranian adult population

To investigate the long-term outcome of using autogenous palmaris longus tendon (PLT) sling for correcting congenital ptosis in children. This is an observational case series involving 15 eyelids of 14 consecutive children with congenital ptosis who underwent frontalis suspension surgery using PLT in a university teaching hospital. One child had bilateral ptosis and the other children had unilateral ptosis. The age of patients at the time of surgery ranged from 2 to 7 years, with an average of 4.7 years. At a mean follow-up of 92 months (range, 80-104 months), all eyelids were successfully corrected with good lid height. No recurrence or other postoperative complications were encountered except one patient who developed a small skin fold over the PLT harvest site. Long-term lid position is remarkably stable after surgical correction using PLT. PLT sling appears to be a safe and effective treatment for children with congenital ptosis requiring frontalis sling operation. It could be a good alternative to autogenous fascia lata, and further studies, to compare these two sling materials seem warranted.

Vernal keratoconjunctivitis (VKC) is an unusually severe sight-threatening allergic eye disease, occurring mainly in children. Children with VKC present with severe ocular symptoms, that is, severe eye itching and irritation, constant tearing, red eye, eye discharge, and photophobia. Though medically treated, some complications of the disease like ptosis may require surgical intervention, thus identifying the association of ptosis with VKC is of utmost importance. This study was done to see the relation between long-standing VKC and acquired ptosis in young adults.This was a hospital based non-comparative, observational study, conducted in the department of Ophthalmology, SKIMS Medical College Hospital, and Srinagar from March 2020 to May 2022. 60 patients upto the age of 40 years with any form of VKC were included in the study. Ocular examination included visual acuity testing, slit lamp biomicroscopic examination to evaluate corneal and conjunctival involvement, proper history and evaluation of ptosis.Mean age of cases was 16.23± 6.97. Out of 60 patients maximum were in the age group of 10-15 years (31.66%), followed by the age group of 15-20 years (21.66%). Out of total 60 cases 46(76.66%) were male and 14(23.33%) were female. Palpebral form of the disease was seen to be in most of the cases 53.33%, followed by mixed form of the disease in 28.33% and bulbar disease in 18.33% of the cases. Presence of acquired ptosis as a complication due to VKC was seen in 9(15%) patients. Out of these 9 patients 7 patients presented with unilateral ptosis and 2 patients presented with bilateral ptosis. Average duration of symptoms in these patients was 5.0±1.8 years, indicating that ptosis is a complication of long standing VKC. All these patients had palpebral or mixed form of VKC, none had bulbar form of the disease.Our study revealed that prolonged severe VKC may induce a lower position of the upper eyelid and eventually lead to ptosis, which is a non-reversible complication of VKC and requires surgical correction. Thus better primary eye care for the management of VKC in children may prevent this complication.

Although mutations in the downstream of tyrosine kinase-7 (DOK7) are one of the most common causes of congenital myasthenic syndrome (CMS) in children and adults, CMS in adults due to the heterozygous variant c.1399_1404del in DOK7 has not yet been reported. A 63-year-old woman had developed bilateral eyelid ptosis at the age of 50, followed by dysphagia shortly thereafter. At the age of 60, in addition to dysphagia, she developed dysarthria and decreased cough. Her sister had a history of right eyelid ptosis. Myasthenia gravis and myasthenic syndrome, motor neuron disease, and myopathy were ruled out in the index patient. Pyridostigmine, steroids, azathioprine, methotrexate, mycophenolatemofetil, and immunoglobulins were either ineffective or complicated by side effects. Genetic testing at the age of 61 years revealed the variants c.1399_1404del and c.54+32_54+33del in DOK7. Late-onset CMS was diagnosed, and salbutamol and later 3,4-diaminopyridine (3,4-DAP) were started, both of which showed a positive effect. This case shows that the DOK7 variant c.1399_1404del is probably pathogenic and responsible for late-onset CMS, either alone or together with the previously reported benign variant c.54+32_54+33del. Salbutamol in combination with 3,4-DAP could be beneficial in patients carrying the c.1399_1404del mutation in DOK7.

Pachydermoperiostosis (PDP), also known as idiopathic or primary hypertrophic osteoarthropathy or Touraine-Solente-Gole Syndrome, is a rare genetic disorder affecting skin and bone, consisting of pachydermia and periostosis. Pachydermia is a thickening and furrowing of the skin and face in a manner that resembles the skin of a pachyderm. Periostosis is periosteal new bone formation in the long bones. In this report, a 16-year-old boy presented with bilateral ptosis and floppy eyelids. He was successfully treated with bilateral upper eyelid pentagonal wedge resections. Histopathology of the excised tissue demonstrated mild epidermal acanthosis and marked increased dermal collagen with thickening of individual fibers, consistent with pachydermia, as well as papillary conjunctival inflammation and Meibomian glands hyperplasia with ductal dilatation, consistent with floppy eyelid syndrome. Radiographic imaging did not demonstrate any signs of periostosis, confirming the diagnosis of form fruste PDP. In a diligent search of the peer-reviewed medical literature (using PubMed and cross-referenced literature), this case may be the first report of floppy eyelid syndrome and ptosis associated with form fruste PDP.

Ocular adnexal lymphoma is considered an uncommon disease, but it is among the most common malignancies affecting the ocular adnexa. While diffuse large B-cell lymphoma constitutes 10% of ocular adnexal lymphomas, the initial presentation with bilateral eyelid swelling is quite rare and can be diagnostically challenging. Here, we report a case of a 64-year-old Middle Eastern male patient with no prior history of malignancy who presented with a 5-month history of bilateral upper eyelid swelling, mild enophthalmos, and ptosis. The patient had no systemic symptoms. The masses were surgically resected, and histopathological examination confirmed the diagnosis of diffuse large B-cell lymphoma. Following surgical resection, the patient developed submandibular and parotid gland enlargements. Subsequent contrast-enhanced computed tomography scan revealed an enhancing mass posterior to the descending aorta. The patient received six cycles of rituximab, cyclophosphamide, hydroxydaunorubicin, vincristine, prednisone regimen. Despite the aggressive nature of diffuse large B-cell lymphoma, clinical remission has been achieved. Follow-up positron emission tomography revealed no residual disease. Bilateral eyelid swelling is a rare initial sign of aggressive lymphoma, such as diffuse large B-cell lymphoma, even in the absence of systemic symptoms. Clinicians should consider malignancy in such atypical presentations to ensure early diagnosis and treatment.

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is a life-threatening, drug-induced hypersensitivity syndrome, characterized by rash, fever, lymphadenopathy, eosinophilia, and internal organ involvement. Most cases of DRESS involve the liver with transaminitis less than 10 times the upper limit of normal, however, severe disease can also rarely be seen - as presented in this case. A 39-year-old woman with psoriatic arthritis (PsA) presents with progressive whole body pruritic rash for one week. Ten months prior to admission, she started apremilast and then one month prior to presentation also started sulfasalazine for her PsA. One week prior to presentation, she noticed an erythematous, pruritic maculopapular rash on her face, chest, arms, legs, and with associated fever. At that time, her rheumatologist discontinued all PsA medications, and she was treated with penicillin for suspected scarlet fever. Her rash worsened, developing facial edema and confluent blistering of her arms and legs. She also developed painful cervical lymphadenopathy. Upon admission, she had a new transaminitis (AST and ALT > 1000 IU/L), elevated INR (1. 4), leukocytosis (30 x103/uL) with eosinophilia (3300 cells/uL), positive HHV-6, and negative viral and autoimmune hepatitis serologies. She had no infectious or neurologic evidence of symptomatic HHV-6 infection. Dermatology, gastroenterology and infectious disease were consulted. A skin biopsy showed a robust lymphomatoid cellular immune reaction with dermal infiltration of eosinophils, consistent with DRESS syndrome. She was started on intravenous and topical steroids and transitioned to a long oral steroid taper, with subsequent resolution of her rash, leukocytosis, and acute liver injury. DRESS syndrome is associated with a range of drugs, including anticonvulsants (phenytoin), sulphonamides, and rarely sulfasalazine. As seen in our case, the onset of the disease is delayed, and ranges from 2 to 6 weeks after the initiation of the therapy. While most cases of DRESS involve only a mild hepatoxicity, severe disease can rarely induce severe transaminitis (AST and ALT >1000 IU/L), hepatomegaly and fulminant liver failure. Treatment involves withdrawal of the causative drug, systemic high dose corticosteroids, and in rare cases with fulminant liver failure even liver transplantation. DRESS syndrome has a mortality rate of 10%, most commonly due to liver failure, making liver involvement a poor prognostic marker.Figure: Trend of Laboratory Values During Hospital Course.Figure: All samples were stained with Hematoxylin-eosin. The biopsy revealed a striking interface dermatitis with marked papillary edema leading to focal areas of epidermaldermal separation (A, B). The supervening epidermis showed spongiosis and eczematous changes (C, D). Many dermal vessels were surrounded by a dense lymphocytic infiltrate containing scattered transformed immunoblastic elements as well as eosinophils (E). There was vascular mural fibrin deposition with mural edema and concomitant endothelial cell swelling, consistent with a lymphomatoid vasculitis (F). ((A) 4x; (B) 10x; (C) 20x; (D) 40x; (E) 100x; (F) 100x).