scholarly journals Subconjunctival Hemorrhage in a Child with the Blue Rubber Bleb Nevus Syndrome on Treatment with Oral Propranolol

2021 ◽  
pp. 451-456
Author(s):  
Karen De Loecker ◽  
Veerle Labarque ◽  
Hilde Seynaeve ◽  
Ingele Casteels
Keyword(s):  
Central Nervous System ◽  
Topical Treatment ◽  
Vascular Lesions ◽  
Venous Malformations ◽  
Timolol Maleate ◽  
Cutaneous Lesions ◽  
Subconjunctival Hemorrhage ◽  
First Case ◽  
Β Blocker ◽  
Oral Propranolol

Blue rubber bleb nevus syndrome (BRBNS) is a rare syndrome characterized by venous malformations of mostly skin and gastrointestinal tract. Patients present with multiple venous malformations in various organs including liver, spleen, heart, eye, and central nervous system. Few ophthalmological cases have been published in literature and at present, there are no clear guidelines on the treatment of eye hemorrhages associated with the BRBNS. We report a 3-year-old boy with the BRBNS who developed a spontaneous progressive enlarging subconjunctival hemorrhage in the left eye despite being treated with oral propranolol. The subconjunctival hemorrhage was caused by an underlying conjunctival vascular malformation. With topical treatment with timolol maleate 0.5% once a day in the affected eye, the lesion regressed completely after 4 months. This child represents the first case of the BRBNS associated with a subconjunctival progressive bleeding necessitating topical treatment despite oral propranolol effectively controlling the cutaneous lesions. We recommend ophthalmic screening of patients with BRBNS in early childhood. For patients with BRBNS-related subconjunctival vascular lesions with subsequent hemorrhage, treatment with a topical β-blocker may be an efficient and harmless treatment option.

Blue Rubber Bleb Nevus Syndrome

2018 ◽  
Vol 16 (05) ◽  
pp. 288-296
Author(s):  
Federica Sullo ◽  
Angela D'Ambra ◽  
Agata Polizzi ◽  
Maria Garozzo ◽  
Flavia Mendola ◽  
...  
Keyword(s):  
Gastrointestinal Tract ◽  
Gastrointestinal Bleeding ◽  
Vascular Malformations ◽  
Mammalian Target Of Rapamycin ◽  
Clinical Problem ◽  
Vascular Lesions ◽  
Oral Drug ◽  
Venous Malformations ◽  
Cutaneous Lesions ◽  
Curative Therapy

AbstractBlue rubber bleb nevus syndrome (BRBNS) is a rare congenital disorder characterized by multifocal venous malformations mainly of the skin, soft tissue, and gastrointestinal tract. However, it may occur in any tissue including the nervous system. This syndrome most commonly occurs sporadically but can be associated with an autosomal dominant inheritance. Among the cases reported in the literature, the female/male ratio was ∼1:1. The diagnosis of BRBNS is based on the presence of characteristic cutaneous lesions with or without gastrointestinal bleeding and/or the involvement of other organs. Typical skin manifestations consist of soft, easily compressive, bluish papules similar to rubber-like nipples. Aside the skin, vascular lesions are usually found in the gastrointestinal tract, anywhere from the oral to the anal mucosa, but predominantly in the small bowel. Endoscopy provides the opportunity to treat and diagnose the lesions. BRBNS should be differentiated from hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome), Klippel–Trenaunay syndrome, and Maffucci syndrome. The prognosis of BRBNS depends on which organs are involved and the extent of involvement. Most patients can live a long life with the disease, but the quality of life is limited due to gastrointestinal bleeding, oral drug therapy, and blood transfusions. Sudden massive gastrointestinal hemorrhage remains the most frequent cause of death. No curative therapy is currently available for this syndrome. The cutaneous lesions are usually asymptomatic and do not require treatment. The most important clinical problem is the management of acute or chronic bleeding from the multiple gastrointestinal venous malformations: a conservative approach should be instituted whenever the clinical features and the bleeding episodes are mild and only in a life-threatening situation surgery may be required. In the recent years, however, molecular targeted therapy with the mammalian target of rapamycin inhibitor sirolimus has been anecdotally employed with reduction in bleeding and shrinkage of vascular malformations.

Birth marks and neonatal skin disorders. From angel kiss to epidermolysis bullosa

2014 ◽  
Vol 155 (13) ◽  
pp. 500-508 ◽  
Author(s):  
Zsanett Csoma ◽  
Angéla Meszes ◽  
Rita Ábrahám ◽  
Judit Bakki ◽  
Zita Gyurkovits ◽  
...  
Keyword(s):  
Newborn Infants ◽  
Vascular Lesions ◽  
Whole Body ◽  
Special Treatment ◽  
Skin Disorders ◽  
Cutaneous Lesions ◽  
Developmental Abnormalities ◽  
Pigmented Lesions ◽  
Mongolian Spot ◽  
Neonatal Skin

Introduction: At present there are no exact epidemiologic data on the prevalence of neonatal skin disorders and birth marks in Hungary. Aim: The aim of the authors was to investigate the prevalence of skin disorders in mature healthy neonates after birth. Method: The survey was carried out in the Neonatal Care Unit at the Department of Obstetrics and Gynaecology at the University of Szeged between April, 2012 and May, 2013. Results:A total of 2289 newborn infants underwent whole-body screening skin examinations. At least one skin manifestation was found in 63% of the neonates. The major groups of skin disorders were transient benign cutaneous lesions, vascular lesions, pigmented lesions, traumatic, iatrogenic, congenital or acquired disorders with skin injuries, developmental abnormalities and benign skin tumours. The most frequent transient cutaneous lesions were erythema toxicum neonatorum, sebaceous hyperplasia and desquamation. The most common vascular lesions were naevus simplex, haemangioma and haemangioma precursor lesion, while the most frequently observed pigmented lesions were congenital melanocytic naevi and Mongolian spot. Conclusions: In the vast majority of cases, special treatment was not necessary, but 5.27% of the neonates required local dermatologic therapy, and in 9.2% of neonates follow up was recommended. Orv. Hetil., 2014, 155(13), 500–508.

Proteus syndrome in pregnancy: A case report

2020 ◽  
pp. 1753495X2097079
Author(s):  
Niccole Ranaei-Zamani ◽  
Mandeep K Kaler ◽  
Rehan Khan
Keyword(s):  
Case Report ◽  
Case Reports ◽  
Proteus Syndrome ◽  
Cutaneous Lesions ◽  
Genetic Syndrome ◽  
Skeletal Tissue ◽  
First Case ◽  
Large Teaching Hospital ◽  
Clinical Presentations ◽  
In Pregnancy

Proteus syndrome is a rare, multi-system, genetic syndrome characterised by atypical and excessive growth of skeletal tissue. Clinical presentations include abnormal musculoskeletal growth and cutaneous lesions. Due to its rarity, there have been a limited number of published case reports of Proteus syndrome. This is the first case report on the management of Proteus syndrome in pregnancy. We present the case of a pregnant woman with Proteus syndrome in her first pregnancy in a large teaching hospital and discuss the considerations and challenges faced in her antenatal, intrapartum and postnatal care.

Topical Timolol for Infantile Haemangioma of the Orbit

2021 ◽  
Vol 238 (10) ◽  
pp. 1069-1076
Author(s):  
Göran Darius Hildebrand ◽  
Zuzana Sipkova
Keyword(s):  
Adverse Effects ◽  
Beta Blockers ◽  
Close Monitoring ◽  
Line Treatment ◽  
Timolol Maleate ◽  
First Line ◽  
Benign Tumours ◽  
Meta Analyses ◽  
Oral Propranolol ◽  
First Line Treatment

AbstractInfantile haemangiomas (IHs) are the most common benign tumours of the eyelid and orbits in infancy. Beta-blockers, in the form of oral propranolol, have become first-line treatment in severe cases with functionally significant or disfiguring IH. However, adverse drug reactions of oral propranolol in infants are reported in 1 in 11 and serious or potentially life-threatening systemic side effects in 1 in 38, including dyspnoea, hypotension, hyperkalaemia, hypoglycaemia, and cyanosis, therefore requiring careful and close monitoring during the course of systemic treatment. More recently, two large meta-analyses have shown topical beta-blockers, such as timolol maleate 0.5%, to be as effective as oral propranolol in superficial IH, but with no or significantly fewer adverse effects, and have advocated that topical beta-blockers replace oral propranolol as the first-line treatment of superficial IH. We have previously reported the therapeutic response of deep periocular IH to primary topical timolol maleate 0.5% monotherapy. Here we also describe the first successful treatments of large orbital IHs with primary topical timolol maleate 0.5% monotherapy in four infants, resulting in immediate cessation of progression and rapid clinical improvement or resolution in all cases. No adverse effects and no recurrence during long-term follow-up of up to 2.5 years after cessation were seen in any of the patients treated with topical timolol maleate 0.5%.

Lhermitte-Duclos Disease with Cervical Arteriovenous Fistula

2018 ◽  
Vol 80 (02) ◽  
pp. 134-137
Author(s):  
Anwar Haq ◽  
Ibrahim Alzahrani ◽  
Essam Shail ◽  
Abdulaziz Almubarak
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Intracranial Pressure ◽  
Obstructive Hydrocephalus ◽  
Rare Condition ◽  
Vascular Lesions ◽  
Pten Gene ◽  
Vascular Tumors ◽  
Arteriovenous Fistulas ◽  
Cowden’S Syndrome

AbstractLhermitte-Duclos disease is a rare condition with less than 250 cases reported in the literature. It was considered a neoplastic or hamartomatous growth in the cerebellum. It commonly presents with symptoms of high intracranial pressure or obstructive hydrocephalus. Surgical resection is often curative. The lesion is associated with PTEN gene mutation, and it is considered to be one of the diagnostic criteria of Cowden's syndrome. Vascular tumors are reported in this syndrome, including glioblastomas and meningiomas. Furthermore, central nervous system vascular lesions were also reported in Lhermitte-Duclos disease, such as deep venous anomalies and brain arteriovenous fistulas. A report of an asymptomatic spinal cervical AVF in a patient with Lhermitte-Duclos disease was published in 2006. We present the second case of Lhermitte-Duclos disease associated with an asymptomatic spinal cervical AVF in a 17-year-old young woman with literature review of central nervous system vascular lesions in Lhermitte-Duclos disease.

Hemorrhagic Suprasellar Central Nervous System Embryonal Tumor in an Adult: Uncommon Features of an Extremely Rare Neoplasm

2021 ◽  
Author(s):  
Martina Piloni ◽  
Filippo Gagliardi ◽  
Michele Bailo ◽  
Lina Raffaella Barzaghi ◽  
Marcella Callea ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Who Classification ◽  
Optic Chiasm ◽  
World Health ◽  
Embryonal Tumors ◽  
Embryonal Tumor ◽  
First Case ◽  
Diffusion Pattern

Abstract Background Occurrences of suprasellar central nervous system (CNS) embryonal tumors in adults are extremely rare. Hemorrhagic onset is further uncommon, with only anecdotic cases reported in the literature. The authors describe the case of a 57-year-old man affected by a suprasellar CNS embryonal tumor, with hemorrhagic onset and a unique diffusion pattern along the optic pathways. Material and Methods A 57-year-old man presenting with acute visual acuity worsening and left homonymous hemianopia was referred to our hospital. Neuroradiologic studies demonstrated an infiltrating, high-grade lesion involving the optic chiasm and right retrochiasmatic pathways with a hemorrhagic area in the ipsilateral pulvinar. Results The patient underwent microsurgical biopsy. Pathologic assessment confirmed the diagnosis of CNS embryonal tumor, not otherwise specified (NOS) according to the 2016 World Health Organization (WHO) classification of CNS tumors. The patient was referred to a multimodal adjuvant treatment; he eventually died 4 months after surgery. Competent literature has been systematically reviewed in the light of the relevant changes made in the last version of the WHO classification. Conclusion Embryonal tumors should be considered in the differential diagnosis for sellar and suprasellar space-occupying lesions, despite the rarity of the disease and the uncommon features at time of presentation. As per our knowledge, this is the first case ever described of hemorrhagic suprasellar embryonal tumor with a diffusion pattern along white matter fibers. Histogenesis, biomolecular and neuroradiologic features, and classification of embryonal tumors are an open field of research, with considerable implications for the definition of better diagnostic pitfalls and therapeutic regimens.

Timolol eyedrops (timoptol) for glaucoma

1980 ◽  
Vol 18 (4) ◽  
pp. 13-14
Keyword(s):  
Ocular Hypertension ◽  
Adverse Reactions ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Timolol Maleate ◽  
Topical Preparation ◽  
Intra Ocular Pressure ◽  
Ocular Pressure ◽  
Β Blocker ◽  
Adrenergic Blocking

β-Adrenergic blocking agents given systemically reduce intra-ocular pressure,1 but until recently their topical use in glaucoma was limited by ocular and systemic adverse reactions. Timolol maleate eyedrops (Timoptol - MSD) is the first topical preparation of a β-blocker that is sufficiently well tolerated to be useful in chronic simple (open-angle) glaucoma and in ocular hypertension (raised intra-ocular pressure without damage to the eye).

scholarly journals Cutaneous Vascular Anomalies Associated With Neural Tube Defects: Nomenclature and Pathology Revisited

Neurosurgery ◽  
2011 ◽  
Vol 69 (1) ◽  
pp. 112-118 ◽  
Author(s):  
Todd Maugans ◽  
Rachel M Sheridan ◽  
Denise Adams ◽  
Anita Gupta
Keyword(s):  
International Society ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Vascular Malformations ◽  
Strong Association ◽  
Vascular Anomalies ◽  
Vascular Lesions ◽  
Dermal Sinus ◽  
Cutaneous Lesions ◽  
Glut 1

Abstract BACKGROUND: Lumbosacral cutaneous vascular anomalies associated with neural tube defects are frequently described in the literature as “hemangiomas.” The classification system for pediatric vascular anomalies developed by the International Society for the Study of Vascular Anomalies provides a framework to accurately diagnose these lesions. OBJECTIVE: To apply this classification to vascular cutaneous anomalies overlying myelodysplasias. METHODS: A retrospective analysis of patients with neural tube defects and lumbosacral cutaneous vascular lesions was performed. All eligible patients had detailed histopathologic analysis of skin and spinal cord/placode lesions. Clinical and radiologic features were analyzed. Conventional histology and GLUT-1 immunostaining were performed to differentiate infantile capillary hemangiomas from capillary vascular malformations. RESULTS: Ten cases with cutaneous lesions associated with neural tube defects were reviewed. Five lesions were diagnosed as infantile capillary hemangiomas based upon histology and positive GLUT-1 endothelial reactivity. These lesions had a strong association with dermal sinus tracts. No reoperations were required for residual intraspinal vascular lesions, and overlying cutaneous vascular anomalies involuted with time. The remaining 5 lesions were diagnosed as capillary malformations. These occurred with both open and closed neural tube defects, did not involute, and demonstrated enlargement and darkening due to vascular congestion. CONCLUSION: The International Society for the Study of Vascular Anomalies scheme should be used to describe the cutaneous vascular lesions associated with neural tube defects: infantile capillary hemangiomas and capillary malformations. We advocate that these lesions be described as “vascular anomalies” or “stains” pending accurate diagnosis by clinical, histological, and immunohistochemical evaluations.

Cystic Trophoblastic Tumor in a Primary Central Nervous System Post-Chemotherapy Germ Cell Tumor: The First Case Report

2020 ◽  
Vol 28 (8) ◽  
pp. 925-928
Author(s):  
Ramya Gadde ◽  
Kanika Arora ◽  
Michelle Madden Felicella ◽  
Sohrab Arora ◽  
Liang Cheng ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Germ Cell ◽  
Germ Cell Tumor ◽  
Germ Cell Tumors ◽  
Testicular Tumor ◽  
Cell Tumor ◽  
Smooth Muscle Tissue ◽  
Trophoblastic Tumor ◽  
First Case

Cystic trophoblastic tumor (CTT) is an uncommon trophoblastic proliferation of germ cell tumor origin, mostly reported in post-chemotherapy metastases of testicular germ cell tumors and rarely primary untreated testicular tumors. To date, we are not aware of occurrence in a non-testicular tumor. A 12-year-old boy presented with limb swelling, increased appetite, weight gain, and precocious puberty. Evaluation revealed right frontal lobe mass and elevated α-fetoprotein and β-human chorionic gonadotrophin. After response to neoadjuvant chemotherapy, the tumor was resected. Microscopically, the resection contained predominantly smooth muscle tissue with scattered small foci of glandular teratoma and CTT. Immunohistochemistry (SALL4, glypican 3) revealed no residual yolk sac tumor. Fluorescence in situ hybridization revealed gain of chromosome 12p. The patient has been disease-free for 13 years. This report expands the spectrum of primary central nervous system germ cell tumors with the occurrence of CTT in this site.

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