Somatotrophin-induced acanthosis nigricans

Downs, A. M. R.; Kennedy, Cameron

doi:10.1046/j.1365-2133.1999.03024.x

Cited by 17 publications

(10 citation statements)

References 9 publications

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“…Interestingly, the same mutation has also been found in a family with hypochondroplasia (HCH) and extensive AN (4). There have been only two reported cases of AN in patients with ACH without SADDAN (5,6) and one in a patient with mild osteochondrodysplasia (p.K650Q) (7). With the exception of AN associated with severe forms of skeletal dysplasias, it is unclear whether there is an etiological association between ACH/HCH and AN.…”

mentioning

confidence: 86%

Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations

Alatzoglou

Hindmarsh

Brain

et al. 2009

The Journal of Clinical Endocrinology &Amp; Metabolism

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mentioning

confidence: 86%

Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations

Alatzoglou

Hindmarsh

Brain

et al. 2009

The Journal of Clinical Endocrinology &Amp; Metabolism

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“…There have been a few instances of AN in achondroplasia described previously (Alatzoglou, Hindmarsh, Brain, Torpiano, & Dattani, ; Couser et al, ; Downs & Kennedy, ; Van Esch & Fryns, ), although of these, one (Downs & Kennedy, ) attributes the AN, not to concomitant achondroplasia, but to growth hormone therapy. In none of these patients described was there evidence for insulin resistance or hyperinsulinemia.…”

Section: Discussionmentioning

confidence: 94%

Acanthosis nigricans in achondroplasia

Smid

Modaff

Alade

et al. 2018

American J of Med Genetics Pt A

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Acanthosis nigricans (AN) in those with achondroplasia has been reported occasionally in the literature previously. Other disorders arising from constitutive activation of FGFR3 also manifest AN at various frequencies. We assessed the prevalence of AN in a sequential series of 477 individuals with achondroplasia. Using a REDCap database, we collected and analyzed what other features or medical issues may co-occur with AN in those with achondroplasia. AN arises in approximately 10% of individuals with achondroplasia. It usually first appears in preadolescence or adolescence, is more likely in the non-White population and in those who are obese. It is not severe and generally will need no treatment. It is not associated with any evident risk for neither hyperinsulinemic states nor malignancy, and therefore, no special investigations are warranted when it is recognized.Thus, clinicians should not be surprised or concerned upon discovering this finding in those with achondroplasia. In addition, the mechanisms and genetic causes of AN are detailed. K E Y W O R D S acanthosis nigricans, achondroplasia, FGFR3, pleiotropy

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“…There were isolated case reports of ACH with AN developed either during treatment with growth hormone or without previous history of treatment [ 12 , 13 ]. In a recent case series of five male patients with AN in ACH and HCH due to FGFR3 mutations, it was found that all of them had normal insulin sensitivity compared with puberty-matched controls [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

Mustafa

Moghrabi

Bin-Abbas

2014

Case Reports in Endocrinology

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FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial malignancies (multiple myeloma and prostate and bladder carcinoma). Hypochondroplasia is the most common type of short-limb dwarfism in children resulting from fibroblast growth factor receptor 3 (FGFR3) mutation. Acanthosis nigricans might be seen in severe skeletal dysplasia, including thanatophoric dysplasia and SADDAN syndrome, without a biochemical evidence of hyperinsulinemia. Insulin insensitivity and acanthosis nigricans are uncommonly seen in hypochondroplasia patients with FGFR3 mutations which may represent a new association. We aim to describe the association of hypochondroplasia, acanthosis nigricans, and insulin resistance in a child harboring FGFR3 mutation. To our knowledge, this is the first case report associating the p.N540 with acanthosis nigricans and the second to describe hyperinsulinemia in hypochondroplasia. This finding demonstrates the possible coexistence of insulin insensitivity and acanthosis nigricans in hypochondroplasia patients.

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Somatotrophin-induced acanthosis nigricans

Cited by 17 publications

References 9 publications

Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations

Acanthosis Nigricans and Insulin Sensitivity in Patients with Achondroplasia and Hypochodroplasia due to FGFR3 Mutations

Acanthosis nigricans in achondroplasia

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association?

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