scholarly journals Spontaneous involution of autologous lenses and phacoanaphylaxis reaction in Stickler syndrome

2005 ◽  
Vol 89 (11) ◽  
pp. 1532-1533 ◽  
Author(s):  
I Habil
Keyword(s):  
Stickler Syndrome ◽  
Spontaneous Involution

scholarly journals Infantile haemangioma: 5-year experience at the vascular anomaly clinic

2021 ◽  
Vol 69 (1) ◽  
Author(s):  
Amr Abdelhamid AbouZeid ◽  
Iman A. Ragab ◽  
Shaimaa Abdelsattar Mohammad ◽  
Wael Ahmed Ghanem ◽  
Haytham Mohamed Nasser ◽  
...  
Keyword(s):  
Neck Region ◽  
Vascular Anomaly ◽  
Paediatric Population ◽  
Favourable Outcome ◽  
Tumour Regression ◽  
Main Body ◽  
Female Predominance ◽  
The Face ◽  
Spontaneous Involution ◽  
Infantile Haemangiomas

Abstract Background Infantile haemangiomas (IH) represent a common benign vascular tumour affecting the paediatric population. Infantile haemangiomas are characterised by a natural history differentiating it from other vascular anomalies. After a transient proliferative phase in early infancy, the tumour passes through a plateau phase before going into spontaneous involution. In this report, we tried to share our experience over the last 5 years in managing cases presenting with IH at a specialised vascular anomaly clinic. Main body of abstract This report included cases of IH who were attending the vascular anomaly clinic during the period 2015 through 2019. Data of all patients attending the clinic were retrospectively examined. Files of 103 cases with IH were available for review. The diagnosis of IH was usually straight forward owing to the typical history and characteristic findings at clinical examination. A significant female predominance was noticed. Generally, IH were more common in the head and neck region (70%). Active intervention was necessary in specific situations (eye occlusion, airway involvement, large lesions with skin ulcerations). Whenever intervention proved to be necessary, propranolol was chosen as the first line of treatment with a favourable response detected in about 90% of cases. Surgery was still a valid option (6%) for lesions amenable to resection; however, we must put in consideration that most lesions will spontaneously regress. Conclusion Infantile haemangiomas are common benign vascular tumours of infancy with relatively few complications. Cosmesis is a major concern especially for lesions affecting the face. Propranolol can induce tumour regression in most cases, and generally, a favourable outcome can be anticipated.

scholarly journals Case Series of Stickler Syndrome Presenting with Acute Angle Closure

2020 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Alexander Walters ◽  
Nathan Lambert ◽  
Seth Bricel ◽  
Thomas Hwang ◽  
Eliesa Ing ◽  
...  
Keyword(s):  
Case Series ◽  
Acute Angle ◽  
Angle Closure ◽  
Stickler Syndrome ◽  
Acute Angle Closure

Stickler syndrome. Epidemiology of retinal detachment

2015 ◽  
Vol 90 (6) ◽  
pp. 264-268
Author(s):  
F. Vilaplana ◽  
S.J. Muiños ◽  
J. Nadal ◽  
J. Elizalde ◽  
S. Mojal
Keyword(s):  
Retinal Detachment ◽  
Stickler Syndrome

Generalized eruptive keratoacanthomas of Grzybowski (case report)

2021 ◽  
Author(s):  
И.А. Куклин ◽  
Н.П. Малишевская ◽  
М.М. Кохан ◽  
Г.Д. Сафонова ◽  
О.Г. Римар ◽  
...  
Keyword(s):  
Clinical Care ◽  
Clinical Manifestations ◽  
Review Of The Literature ◽  
Trunk Limbs ◽  
The Face ◽  
Spontaneous Involution ◽  
Atrophic Scars ◽  
Short Time ◽  
First Time ◽  
Aromatic Retinoids

В статье представлен краткий обзор литературы о клинических проявлениях, современных методах диагностики и лечения чрезвычайно редкого заболевания – множественной эруптивной кератоакантомы типа Гржебовски. Заболевание характеризуется возникновением сотен или тысяч генерализованных зудящих узелков на коже лица, туловища, конечностей, половых органов, слизистой полости рта и гортани в течение короткого времени. Заболевание развивается в возрасте старше 40 лет, имеет рецидивирующее течение, возможна спонтанная инволюция отдельных элементов с формированием участков депигментации или атрофических рубцов. Авторы приводят случай собственного клинического наблюдения множественной эруптивной кератоакантомы типа Гржебовски у пациента 50 лет, который обратился на консультацию к дерматовенерологу в клинику Уральского НИИ дерматовенерологии и иммунопатологии. Длительность болезни на момент обращения составляла 2,5 года, ее возникновению предшествовало неоднократное посещение больным стран с избыточной инсоляцией, что может рассматриваться в качестве этиологического фактора развития заболевания. Диагноз впервые был заподозрен на консилиуме дерматовенерологов на основании клинической картины заболевания и в дальнейшем верифицирован данными патоморфологического исследования биоптата пораженной кожи. Показана эффективность применения ароматических ретиноидов в лечении множественной эруптивной кератоакантомы типа Гржебовски и приведены побочные эффекты, которые развились у больного при самостоятельном увеличении дозы ацитретина до 70 мг/сутки. В статье констатируется чрезвычайно редкая встречаемость данного заболевания, о чем свидетельствует приведенный клинический случай, диагностируемый впервые более чем за 90-летнюю историю существования института. Подчеркивается важность консолидации клинического опыта нескольких ведущих дерматовенерологов для диагностики множественной эруптивной кератоакантомы типа Гржебовски. The article presents a brief review of the literature about clinical manifestations, modern methods of diagnosticsand treatment of an extremely rare disease – generalized eruptive keratoacanthomas of Grzybowski. The disease is characterized by the appearance of hundreds or thousands of generalized itchy nodules on the skin of the face, trunk, limbs, genitals, oral mucosa and larynx within a short time. The disease develops at the age of over 40, has a recurrent course, spontaneous involution of individual elements with the formation of areas of depigmentation or atrophic scars is possible. The authors describe a case of their own clinical care of generalized eruptive keratoacanthomas of Grzybowski in a 50-year-old patient who consulted a dermatovenerologist at the clinic of the Ural Research Institute of Dermatovenerology and Immunopathology.The duration of the disease at the time of visit to a doctor was 2,5 years, its occurrence was preceded by repeated visits to countries with excessive insolation, which can be considered as an etiological factor in the development of the disease. The diagnosis was first suspected at a boarddermatovenerologists based on the clinical picture of the disease and subsequently verified by the data of a pathomorphological examination of the biopsy of the affected skin.The effectiveness of the use of aromatic retinoids in the treatment of generalized eruptive keratoacanthomas of Grzybowski is shown and the side effects that developed in the patient with an independent increase in the dose of acitretin to 70 mg/day are given. The article states the extremely rare occurrence of this disease, as evidenced by the above clinical case, diagnosed for the first time in more than 90 years of the institute's existence. The importance of consolidating the clinical experience of several leading dermatovenerologists for the diagnostics of generalized eruptive keratoacanthomas of Grzybowski is emphasized.

scholarly journals Radiographic and Tomographic Analysis in Patients with Stickler Syndrome Type I

2013 ◽  
Vol 10 (9) ◽  
pp. 1250-1258 ◽  
Author(s):  
Ali Al Kaissi ◽  
Farid Ben Chehida ◽  
Rudolf Ganger ◽  
Vladimir Kenis ◽  
Shahin Zandieh ◽  
...  
Keyword(s):  
Type I ◽  
Syndrome Type ◽  
Stickler Syndrome ◽  
Tomographic Analysis

scholarly journals Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I

Genes ◽  
2022 ◽  
Vol 13 (1) ◽  
pp. 137
Author(s):  
Tatyana Markova ◽  
Vladimir Kenis ◽  
Evgeniy Melchenko ◽  
Darya Osipova ◽  
Tatyana Nagornova ◽  
...  
Keyword(s):  
Clinical Manifestations ◽  
Normal Growth ◽  
Type I ◽  
Syndrome Type ◽  
Stickler Syndrome ◽  
Genetic Characteristics ◽  
Col2a1 Gene ◽  
Skeletal Dysplasias ◽  
Spondyloepiphyseal Dysplasia ◽  
Novel Variants

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.

scholarly journals A Case of Type 1 Stickler Syndrome Caused by a Novel Mutation inCOL2A1

2014 ◽  
Vol 87 (6) ◽  
pp. 738 ◽  
Author(s):  
Dong Kyu Park ◽  
Shin Hye Kim ◽  
Beom Hee Lee ◽  
Gu-Hwan Kim ◽  
Han-Wook Yoo ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Stickler Syndrome

scholarly journals ‘Failure’ of laser prophylaxis in an eye with stickler syndrome

2021 ◽  
Vol 11 (4) ◽  
pp. 110-111
Author(s):  
Michael P Blair
Keyword(s):  
Vision Loss ◽  
Clinical Course ◽  
Case Reports ◽  
Visual Outcome ◽  
Stickler Syndrome ◽  
Connective Tissue Disorders ◽  
Macular Function ◽  
Giant Retinal Tear ◽  
Case Summary

Background: Stickler syndrome is one of the most common inherited connective tissue disorders and is an important cause of pediatric vision loss due to a high risk of retinal detachment in these patients. Methods: Case report. Case summary: This case reports describes the clinical course of a 10 year old boy with Sticklers Syndrome who underwent bilateral peripheral laser prophylaxis. During routine follow up, he was found to have an asymptomatic giant retinal tear (GRT) with limited sub-retinal fluid expansion due to prior prophylactic laser. He underwent surgery with vitrectomy and scleral buckle with vision remaining at 20/25 at 6 month follow up. Conclusion: Although the utility of laser prophylaxis in Stickler patients is debated, this case demonstrates that after laser prophylaxis, even if GRT develops, expansion can be limited. Laser prophylaxis along with frequent examinations, can prevent development of PVR and complex detachments and preserve macular function with excellent visual outcome.

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