Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case

Doulias, Triantafyllos; Papaziogas, B.; Rosser, J.; Koutelidakis, Ioannis

doi:10.1136/bcr-2012-008216

Cited by 5 publications

(3 citation statements)

References 11 publications

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“…The concomitant occurrence of autoimmune thyroid diseases [Hashimoto’s thyroiditis (HT) and Graves’ disease], and thyroid neuroendocrine tumours and other neoplasms (C-cell hyperplasia, medullary thyroid cancer, papillary thyroid cancer and neurofibroma) with NF1 has been reported in previous studies ( 4 , 9 , 10 , 11 , 12 , 13 ). The present study concluded that the comorbidity of AT with NF1 in children and adolescents is uncommon.…”

Section: Discussionmentioning

confidence: 83%

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Güler¹,

Yeşil²,

Önal³

2017

Balkan Med J

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Background:Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which the coexistence of autoimmune thyroiditis and thyroid gland tumours has been reported previously.Aims:To determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid diseases.Study Design:Case-control study.Methods:The study includes 78 consecutive patients diagnosed with neurofibromatosis type 1 between June 2010 and June 2014 and 50 healthy controls. Baseline demographic data were generated from patient examination record forms, including age, sex, height, and weight, as well as levels of free triiodothyronine, free thyroxine, thyroid-stimulating hormone, anti-thyroid peroxidase and anti-thyroglobulin levels.Results:Mean age, sex, and body mass index were similar in both groups (p>0.05). The mean levels of free triiodothyronine, free thyroxine, and thyroid-stimulating hormone were not statistically different between the neurofibromatosis type 1 and control groups. Similarly, no statistically significant difference was observed between the neurofibromatosis type 1 and control groups for anti-thyroid peroxidase and anti-thyroglobulin positivity (2.5% vs 0%, p>0.05).Conclusion:Screening for autoimmune thyroid disease and thyroid function seems to be unnecessary in patients with neurofibromatosis type 1.

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Section: Discussionmentioning

confidence: 83%

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Güler¹,

Yeşil²,

Önal³

2017

Balkan Med J

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“…Previous reports have addressed the association of NF-1 with autoimmune thyroiditis, thyroid nodules, and neuroendocrine tumors. 10 11 12 13 The prevalence of subclinical hypothyroidism in children was estimated to be less than 2%. 14 In Serhat Güler study, a case of a 10-year-old girl with coexisting NF-1 and subclinical hypothyroidism was reported.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1

et al. 2022

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Background Neurofibromatosis type 1 (NF-1) is an autosomal dominant neurocutaneous disorder that increases the risk of developing benign and malignant tumors. Several associated endocrine diseases in NF-1 patients have been explained in the literature. Thus, this study aims to assess the endocrine manifestations as there no previous local data have discussed this association. Methods A retrospective cross-sectional study was conducted at KAMC and KASCH, Riyadh, Saudi Arabia by including all patients genetically confirmed with NF1 from 2004 until 2019 using a consecutive non-probability sampling technique. The included data were demographics, consanguinity, genetic variant mutations as well as associated endocrine diseases. Results The prevalence of patients with associated endocrine diseases was estimated to be 19.4%. Short stature showed the highest frequency of associated endocrine diseases followed by subclinical hypothyroidism. Positive consanguinity, sporadic mutation, and pathogenic variant showed high frequencies. Conclusion The coexistence of endocrine diseases was found in NF-1 patients. Therefore, screening for endocrine abnormality in patients with NF-1 by comprehensive history and physical exam as well as investigations to minimize complications and the late presentation should be considered; however, further studies are necessary to address the need.

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“…) are sometimes described as ‘elephantiasis neuromatosa’ . Moreover, T2SM may involve the brain, eye and orbita, bones and joints, parotis, thyroid, larynx, trachea, lung, heart, oesophagus, upper gastro‐intestinal tract (Fig. ), rectum, liver, gall bladder, pancreas, retroperitoneum and bladder …”

Section: Autosomal Dominant Disorders Characterized By Multiple Skin mentioning

confidence: 99%

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

Happle

2018

Acad Dermatol Venereol

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In autosomal dominant skin disorders, the well-known type 1 segmental mosaicism reflects heterozygosity for a postzygotic new mutation. By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild-type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non-segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an extracutaneous manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.

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Thyroid neurofibroma in a female patient with neurofibromatosis type I: report of a case

Cited by 5 publications

References 11 publications

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Endocrinological Evaluations of a Neurofibromatosis Type 1 Cohort: Is it Necessary to Evaluate Autoimmune Thyroiditis in Neurofibromatosis Type 1?

Prevalence of Associated Endocrine Diseases in Patients with Neurofibromatosis Type 1

The concept of type 2 segmental mosaicism, expanding from dermatology to general medicine

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