a case of proteus syndrome with new ophthalmic presentation

Authors

احمد میرشاهی

a mirshahi تهران- میدان قزوین- بیمارستان فارابی- مرکز تحقیقات چشم دانشگاه علوم پزشکی تهران آرش میرمحمدصادقی

a mir mohammad sadeghi شهرستان خوانسار تاریخ لادن اسپندار

l espandar

abstract

purpose: to report a case of proteus syndrome with new ophthalmic findings not reported elsewhere. patient and findings: the patient is an 18-year-old girl with red lesions on hand and foot from birth and disproportionate growth of right upper and lower limbs from the first year of life. on examination, the patient has enlargement of the right upper and lower limb, macrodactyly, vascular malformations on limbs, epidermal nevus on trunk, and kyphoscoliosis. on ophthalmic examination, the patient has posterior subcapsular cataract, dilation of inferior and nasal retinal veins, narrowing of the superior and temporal retinal veins, and macular hypoplasia in both eyes. conclusion: the patient had general criteria, and two group b and one group c criteria of proteus syndrome. from ophthalmic presentation, only cataract has previously been reported in proteus syndrome and others are new.

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

proteus syndrome: a case report of general and ophthalmic findings

an 18-year-old girl fulfilled the diagnostic criteria for the proteus syndrome (ps). here we report our findings in comprehensive general physical and ocular examination and review the literature focused on clinical manifestations and differential diagnoses. the patient had ‘mild’ involvement of the ophthalmic apparatus: absent foveal reflex, cataract, and abnormal retinal vessels, which in the...

full text

Proteus syndrome: A case report

The Proteus syndrome comprises an association of asymmetrical overgrowth of almost any part of the body, verrucous epidermal naevi, vascular malformations and lipoma-like subcutaneous hamartoma. Both sexes are affected with equal frequency and severity and it is not transmitted genetically. Here a 16-year-old man with asymmetric overgrowth of the extremities, macrodactyly, cerebriform hypertrop...

full text

Report of a case of Proteus syndrome with severe anemia

Proteus syndrome is a rare congenital disorder comprised of subcutaneous and internal hamartomas, miscellaneous skin and vascular nevi, skeletal and nervous system and eye malformations, with characteristic manifestations including hemihypertrophy, local gigantism, macrodactyly and cerebriform thickness of soles and palms. A 23 year-old man with diagnosis of proteus syndrome had sever ane...

full text

Bloom’s syndrome: A case presentation

Bloom’s syndrome (BS) is a rare, autosomal recessive disease characterized by short stature, erythematous skin lesions with photosensitivity, hypo- and hyperpigmentation and recurrent bacterial infections due to immune deficiency. We report a 13-year old girl with erythema and telangiectasia in butterfly distribution on face, photosensitivity, multiple café au lait spots on trunk and extremitie...

full text

Proteus Syndrome with Neurological Manifestations: A Rare Presentation

Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. We hereby present a 7-year-old boy who presente...

full text

proteus syndrome: a case report

objective proteus syndrome is an extremely rare, sporadic and progressive disorder. we describe a four-month-old male baby with central nervous system manifestations in this article. clinical presentation a four-month-old boy was admitted into our hospital with three tonic - clonic generalized seizure attacks which started from the day before admission. each seizure attack lasted less than 10 m...

full text

My Resources

Save resource for easier access later


Journal title:
بینا

جلد ۱۰، شماره ۲، صفحات ۲۴۷-۲۵۵

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023