Familial Acanthosis Nigricans Due to K650T FGFR3 Mutation

Berk, David R.; Spector, Elaine; Bayliss, Susan J.

doi:10.1001/archderm.143.9.1153

Cited by 58 publications

(62 citation statements)

References 22 publications

(23 reference statements)

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“…It is proposed that this variant is probably related to a new mutation occurring for the first time in a family, similar to familial occurrence of non syndromic AN due to mutation of fibroblast growth factor receptor-3. 10 In conclusion, we report the occurrence of a benign form of AN with onset during infancy and a benign clinical course. The diagnosis is made after extensive evaluation aimed at excluding a number of systemic conditions associated with AN.…”

Section: Discussionmentioning

confidence: 64%

Generalised idiopathic benign acanthosis nigricans with onset during infancy: report of two patients

et al. 2017

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<p>Generalised acanthosis nigricans (AN) is usually seen in association with insulin resistance or internal malignancy in adults. Very rarely, this may occur in children without any evidence of systemic disease and runs a benign course. Its management requires only watchful waiting. Here, we report two children with benign AN who had onset of AN during infancy and showed spontaneous improvement during follow up for a mean duration of 7.7±0.14 years.</p>

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Section: Discussionmentioning

confidence: 64%

Generalised idiopathic benign acanthosis nigricans with onset during infancy: report of two patients

et al. 2017

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“…Very recently, this substitution has been described to cause familial AN with no obvious skeletal abnormalities except slight short stature (5). Another report has linked AN to a mild form of osteochondrodysplasia (26).…”

Section: Discussionmentioning

confidence: 99%

“…Other skeletal dysplasias associated with mutations in FGFR3 include achondroplasia, thanatophoric dysplasia types I and II, and severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). FGFR3 mutations have also been described in Muenke and Crouzon syndromes with acanthosis nigricans (AN) (2); camptodactyly, tall stature and hearing loss syndrome (3); lacrimo-auriculo-dento-digital syndrome (4) and, recently, in familial AN (5).…”

Section: Introductionmentioning

confidence: 99%

Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

Castro-Feijóo

Loidi

Vidal

et al. 2008

European Journal of Endocrinology

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Background: Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been recognized in some genetic disorders more severe than HCH involving the FGFR3 gene. Objective and design: After initial study of the proband, who had been consulted for short stature and who also presented AN, the study was extended to the patient's mother and to 12 additional family members. Methods: Clinical, biochemical and radiological studies were performed on the family. In addition, exons 11 and 13 of FGFR3 were analyzed. Results: The proband and ten relatives presented HCH plus AN and the analysis of FGFR3 showed the p.Lys650Thr mutation. The members with normal phenotypes were non-carriers of the mutation. Conclusion: This is the first report of a large pedigree with the clinical phenotype of HCH plus AN due to a FGFR3 mutation, p.Lys650Thr. This finding demonstrates the coexistence of both conditions due to the same mutation and it might represent a true complex, which should be further established by searching for AN in mild HCH patients or for HCH in patients with AN.

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“…Des mutations du gène de FGFR3 sont impliquées aussi dans plusieurs syndromes autosomiques dominants comportant une dysplasie osseuse, dont certains peuvent être associés à un acanthosis nigricans et dans différentes néoplasies, comme des cancers de vessie de bas grade [11][12][13][14]. D'un autre côté, une mutation du codon 650 du gène de FGFR3 a été objectivée chez quatre membres d'une même famille atteints d'acanthosis nigricans généralisé autosomique dominant [15]. Il est donc tentant de postuler que le RAVEN pourrait être lié à un mosaïcisme post-zygotique sur une mutation du gène FGFR3 présente dans des acanthosis nigricans et peutêtre distincte de la mutation du codon 248 qui prédomine dans les formes habituelles d'hamartome épidermique.…”

Section: Discussionunclassified

Acanthosis nigricans nævoïde ou « RAVEN » (rounded and velvety epidermal nevus) : trois cas

Petit

Lemarchand-Vénencie

Pinquier

et al. 2012

Annales de Dermatologie et de Vénéréologie

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Familial Acanthosis Nigricans Due to K650T FGFR3 Mutation

Cited by 58 publications

References 22 publications

Generalised idiopathic benign acanthosis nigricans with onset during infancy: report of two patients

Generalised idiopathic benign acanthosis nigricans with onset during infancy: report of two patients

Hypochondroplasia and acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

Acanthosis nigricans nævoïde ou « RAVEN » (rounded and velvety epidermal nevus) : trois cas

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