Exuberant manifestation of neurofibromatosis type 1 affecting 3 generations: delayed diagnosis and the importance of the multidisciplinary approach

Tolentino, Elen de Souza; Pinto, Gustavo Nascimento de Souza; Maciel, Larissa G.; Soares, Cléverson Teixeira; Lara, Vanessa Soares; Casaroto, Ana Regina

doi:10.1016/j.oooo.2019.03.003

Cited by 4 publications

(4 citation statements)

References 14 publications

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“…BSS and NF1 are both rare conditions and are characterized by wide clinical variability that causes many patients to remain undiagnosed for years or even generations [30].…”

Section: Discussionmentioning

confidence: 99%

A Misdiagnosed Familiar Brooke–Spiegler Syndrome: Case Report and Review of the Literature

Brambullo,

De Lazzari,

Franchi

et al. 2024

JCM

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Aim of the report: Brooke–Spiegler syndrome (BSS) is a rare autosomal dominant disease characterized by the growth of cylindromas, spiradenomas, trichoepitheliomas, or their combination. These neoplasms usually begin in the second decade and progressively increase in number and size over the years. Diagnosis necessitates consideration of family history, clinical examination, histological findings, and genetic analysis. The aim of this paper is to explore the clinical overlap between Brooke–Spiegler syndrome (BSS) and neurofibromatosis type 1 (NF1). We aim to highlight the challenges associated with their differential diagnosis and emphasize the lack of standardized diagnostic criteria and treatment approaches. Case presentation: Hereby, we introduce the case of a 28-year-old male referred for suspicion of neurofibromatosis type 1 (NF1) who initially declined the recommended surgical excision for a scalp mass. After four years, he returned with larger masses of the scalp, and underwent excision of multiple masses, revealing cylindromas, spiradenomas, and spiradenocylindromas. Family history reported similar tumors in his father, who was also diagnosed with NF1 for the presence of multiple subcutaneous lesions on the scalp. Clinical overlap led to a genetic consultation, but testing for CYLD mutations yielded no significant variations. Despite this, the strong family history and consistent findings led to a revised diagnosis of Brooke–Spiegler syndrome, correcting the initial misdiagnosis of NF1 syndrome. Conclusions: Thanks to the evolving landscape of BSS research over the past two decades, its molecular underpinnings, clinical presentation, and histopathological features are now clearer. However, a thorough family history assessment is mandatory when BSS is suspected. It is our belief that a multidisciplinary approach and cooperation between specialists are essential when dealing with BSS. By sharing this case, we hope to underscore the importance of considering BSS as a differential diagnosis, especially in cases with atypical presentations or overlapping features with other syndromes like NF1.

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“…BSS and NF1 are both rare conditions and are characterized by wide clinical variability that causes many patients to remain undiagnosed for years or even generations [30].…”

Section: Discussionmentioning

confidence: 99%

A Misdiagnosed Familiar Brooke–Spiegler Syndrome: Case Report and Review of the Literature

Brambullo,

De Lazzari,

Franchi

et al. 2024

JCM

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“…Neurofibromatosis type 1, also referred to as von Recklinghausen’s disease, is an inherited autosomal dominant disorder characterized by the growth of multiple benign tumors along the nerves and on the skin, neurofibromas [ 11 , 43 , 57 , 58 , 59 ]. In cases when it is localized on the head and neck, it usually affects the skin; however, neurofibromas in the mouth are not uncommon [ 43 , 57 , 59 , 60 , 61 , 62 ]. There, it is typically present in the form of a submucosal, soft, discreet mass of smaller diameter, mostly on the alveolar processus and palate [ 11 , 43 , 57 , 59 , 60 , 61 , 62 , 63 , 64 ].…”

Section: Hereditary Diseasesmentioning

confidence: 99%

“…In cases when it is localized on the head and neck, it usually affects the skin; however, neurofibromas in the mouth are not uncommon [ 43 , 57 , 59 , 60 , 61 , 62 ]. There, it is typically present in the form of a submucosal, soft, discreet mass of smaller diameter, mostly on the alveolar processus and palate [ 11 , 43 , 57 , 59 , 60 , 61 , 62 , 63 , 64 ]. Neurofibromatosis type 1 should be suspected in cases when the described changes are associated with multiple café-au-lait spots on the skin [ 11 , 43 , 57 , 58 , 59 , 62 , 64 ].…”

Section: Hereditary Diseasesmentioning

confidence: 99%

Oral Mucosal Lesions in Childhood

et al. 2022

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Childhood diseases are a continuous source of interest in all areas of general and dental medicine. Congenital, developmental, and hereditary diseases may either be present upon birth or appear in early childhood. Developmental anomalies, although often asymptomatic, may become grounds for different infections. Furthermore, they can indicate certain systemic disorders. Childhood age frequently brings about benign tumors and different types of traumatic lesions to the oral mucosa. Traumatic lesions can be caused by chemical, mechanical, or thermal injury. Mucocele and ranula are, by definition, traumatic injuries of the salivary glands or their ducts. Recurrent aphthous lesions are the most common type of ulcerations in childhood, and their etiology is considered multifactorial. Oral mucosal lesions in children require different treatment approaches depending on etiological factors and clinical presentation. Clinicians should have adequate knowledge of oral anatomy in order to diagnose and treat pathological conditions.

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“…Malignant neurofibromas and other NF1-related tumors may warrant surgical excision and/or chemotherapy [10]. However, the rarity and variability of the disease means that many patients remain without diagnosis for many years, or even generations [19].…”

Section: Introductionmentioning

confidence: 99%

Multispectral Imaging Analysis of Skin Lesions in Patients with Neurofibromatosis Type 1

Plorina,

Saulus,

Rudzitis

et al. 2023

JCM

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Neurofibromatosis type 1 (NF1) is a rare disease, affecting around 1 in 3500 individuals in the general population. The rarity of the disease contributes to the scarcity of the available diagnostic and therapeutic approaches. Multispectral imaging is a non-invasive imaging method that shows promise in the diagnosis of various skin diseases. The device utilized for the present study consisted of four sets of narrow-band LEDs, including 526 nm, 663 nm, and 964 nm for diffuse reflectance imaging and 405 nm LEDs, filtered through a 515 nm long-pass filter, for autofluorescence imaging. RGB images were captured using a CMOS camera inside of the device. This paper presents the results of this multispectral skin imaging approach to distinguish the lesions in patients with NF1 from other more common benign skin lesions. The results show that the method provides a potential novel approach to distinguish NF1 lesions from other benign skin lesions.

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Exuberant manifestation of neurofibromatosis type 1 affecting 3 generations: delayed diagnosis and the importance of the multidisciplinary approach

Cited by 4 publications

References 14 publications

A Misdiagnosed Familiar Brooke–Spiegler Syndrome: Case Report and Review of the Literature

A Misdiagnosed Familiar Brooke–Spiegler Syndrome: Case Report and Review of the Literature

Oral Mucosal Lesions in Childhood

Multispectral Imaging Analysis of Skin Lesions in Patients with Neurofibromatosis Type 1

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