Legius Syndrome in a 13 Month Old Boy: A Case Report

Legius syndrome is autosomal dominant and caused by mutations in the SPRED1 gene. Clinical manifestations include multiple cafe-au-lait spots, axillary/ inguinal freckling and a degree of macrocephaly, without the non-pigmentary signs of neurofibromatosis type 1 (NF1). Learning disabilities, developmental delay and ADHD are also known.

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Neurofibromatosis Type 1

10.1093/med/9780199937837.003.0051 ◽

2017 ◽

Author(s):

David S. Wolf

Keyword(s):

Learning Disabilities ◽

Neurofibromatosis Type 1 ◽

Autosomal Dominant ◽

Neurofibromatosis Type ◽

Vascular Abnormalities ◽

Hyperactivity Disorder ◽

Café Au Lait Spots ◽

Lisch Nodules ◽

Neurocutaneous Disorder

Neurofibromatosis type 1 is a common, autosomal dominant, monogenetic neurocutaneous disorder. It is characterized by café au lait spots, axillary and inguinal freckling, Lisch nodules, optic pathway gliomas, neurofibromas, and distinctive bony abnormalities. Also associated with this condition are other central nervous system tumors, scoliosis, hypertension, vascular abnormalities, and cognitive issues such as learning disabilities and attention deficit-hyperactivity disorder.

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Cutaneous Neurofibroma of the Lacrimal Caruncule: A Case Report

Case Reports in Ophthalmology ◽

10.1159/000477577 ◽

2017 ◽

Vol 8 (2) ◽

pp. 358-361

Author(s):

Mario Motta ◽

Mauro Geller ◽

Cesar Motta

Keyword(s):

Case Report ◽

General Anesthesia ◽

Female Patient ◽

Neurofibromatosis Type 1 ◽

Genetic Disease ◽

Autosomal Dominant ◽

Clinical Manifestations ◽

Neurofibromatosis Type ◽

Histopathological Analysis

We describe the case of a neurofibroma on the lacrimal caruncle of a female patient with neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant genetic disease with a wide variety of clinical manifestations, one of the most common of which is neurofibroma. The lesion was removed surgically under general anesthesia and sent to histopathological analysis, which confirmed the clinical diagnosis of a neurofibroma.

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Satisfaction from surgical treatment and its’ influence on comfort of feeling in patients with Recklinghausen disease

Polish Journal of Surgery ◽

10.5604/01.3001.0014.1541 ◽

2020 ◽

Vol 92 (4) ◽

pp. 31-37

Author(s):

Marta Fijałkowska ◽

Bogusław Antoszewski

Keyword(s):

Surgical Treatment ◽

Plastic Surgery ◽

Neurofibromatosis Type 1 ◽

Autosomal Dominant ◽

Demographic Factors ◽

Neurofibromatosis Type ◽

Self Confidence ◽

Café Au Lait Spots ◽

Recklinghausen Disease

Background. Neurofibromatosis type 1 (NF-1) is one of the most common autosomal dominant disorders. Multiple benign dermal neurofibromas, cafe´ au lait spots, axillary and inguinal freckling are the hallmarks of NF1. Aim. The aim of this paper is to verify if surgical treatment performed in patients with NF-1 is satisfactory for them and to describe demographic factors characteristic to patients with Recklinghausen disease. Methods. A special questionnaire was prepared for the study, which contained 45 questions. Seventeen patients with neurofibromatosis type 1 agreed to fill in the questionnaire aged from 22 to 61 years. Results. Surgical treatment in patients was started between 6 and 45 years of age. All patients declare their will to continue surgical treatment. After treatment patients think that they are more comfortable, more self-confident and sociable. The first symptoms of neurofibromatosis were seen in about 13 years of life in most patients. In the group of women who gave a birth all of them noticed progression of the disease during pregnancy. Conclusions. Performed surgical treatment raises life comfort and increase self-confidence in patients with neurofibromatosis type 1. Due to visibility of neurofibromas it is worth to refer patients to Department of Plastic Surgery. Doctors dealing with patient with NF-1shoud inform them about its inheritance basis and that puberty and pregnancy intensify the process of skin neurofibroma development.

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Neurofibromatosis Type 1 with Bladder Involvement

Case Reports in Urology ◽

10.1155/2013/145076 ◽

2013 ◽

Vol 2013 ◽

pp. 1-3

Author(s):

Iyimser Üre ◽

Serhat Gürocak ◽

Ipek Isik Gönül ◽

Sinan Sözen ◽

Nuri Deniz

Keyword(s):

Neurofibromatosis Type 1 ◽

Autosomal Dominant ◽

Clinical Presentation ◽

Treatment Options ◽

Transmitted Disease ◽

Clinical Manifestations ◽

Neurofibromatosis Type ◽

Benign Disease ◽

Genitourinary System

Neurofibromatosis type 1 is an autosomal dominant transmitted disease with various clinical manifestations. The bladder is the most commonly affected organ in the genitourinary system. The malignant transformation of the disease is rare, and unlike malign tumors, the treatment option for benign disease is usually conservative. The size and localization of the mass determine the symptoms, most of which are usually not specific. In this paper, we aim to present a 15-year-old patient with neurofibromatosis type 1 with bladder involvement. The clinical presentation and treatment options of this disease are discussed in the light of the literature.

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