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Skeletal dysplasia with acanthosis nigricans

MedGen UID:
341943
•Concept ID:
C1851152
•
Disease or Syndrome
Synonym: SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS
 
OMIM®: 134934

Recent clinical studies

Etiology

Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the PCNT gene.
Alrajhi H, Alallah J, Shawli A, Alghamdi K, Hakami F
BMJ Case Rep 2019 May 30;12(5) doi: 10.1136/bcr-2018-224197. PMID: 31151966Free PMC Article
Acanthosis nigricans in achondroplasia.
Smid CJ, Modaff P, Alade A, Legare JM, Pauli RM
Am J Med Genet A 2018 Dec;176(12):2630-2636. Epub 2018 Oct 31 doi: 10.1002/ajmg.a.40506. PMID: 30380187
FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.
Farmakis SG, Shinawi M, Miller-Thomas M, Radmanesh A, Herman TE
Skeletal Radiol 2015 Mar;44(3):441-5. Epub 2014 Aug 15 doi: 10.1007/s00256-014-1983-6. PMID: 25119967
Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
Barroso E, Pérez-Carrizosa V, García-Recuero I, Glucksman MJ, Wilkie AO, García-Minaur S, Heath KE
Am J Med Genet A 2011 Dec;155A(12):3050-3. Epub 2011 Oct 28 doi: 10.1002/ajmg.a.34199. PMID: 22038757

Diagnosis

Acanthosis nigricans in achondroplasia.
Smid CJ, Modaff P, Alade A, Legare JM, Pauli RM
Am J Med Genet A 2018 Dec;176(12):2630-2636. Epub 2018 Oct 31 doi: 10.1002/ajmg.a.40506. PMID: 30380187
Imaging of Skeletal Disorders Caused by Fibroblast Growth Factor Receptor Gene Mutations.
Sargar KM, Singh AK, Kao SC
Radiographics 2017 Oct;37(6):1813-1830. doi: 10.1148/rg.2017170017. PMID: 29019756
Mild achondroplasia/hypochondroplasia with acanthosis nigricans, normal development, and a p.Ser348Cys FGFR3 mutation.
Couser NL, Pande CK, Turcott CM, Spector EB, Aylsworth AS, Powell CM
Am J Med Genet A 2017 Apr;173(4):1097-1101. Epub 2017 Feb 9 doi: 10.1002/ajmg.a.38141. PMID: 28181399
Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW
Am J Med Genet A 2014 Jan;164A(1):243-50. Epub 2013 Oct 29 doi: 10.1002/ajmg.a.36236. PMID: 24352917
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.
Alatzoglou KS, Hindmarsh PC, Brain C, Torpiano J, Dattani MT
J Clin Endocrinol Metab 2009 Oct;94(10):3959-63. Epub 2009 Jul 21 doi: 10.1210/jc.2009-0322. PMID: 19622626

Therapy

FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature.
Blomberg M, Jeppesen EM, Skovby F, Benfeldt E
Dermatology 2010;220(4):297-305. Epub 2010 May 4 doi: 10.1159/000297575. PMID: 20453470
Acanthosis nigricans and insulin sensitivity in patients with achondroplasia and hypochodroplasia due to FGFR3 mutations.
Alatzoglou KS, Hindmarsh PC, Brain C, Torpiano J, Dattani MT
J Clin Endocrinol Metab 2009 Oct;94(10):3959-63. Epub 2009 Jul 21 doi: 10.1210/jc.2009-0322. PMID: 19622626

Prognosis

Mild isolated craniosynostosis due to a novel FGFR3 mutation, p.Ala334Thr.
Barroso E, Pérez-Carrizosa V, García-Recuero I, Glucksman MJ, Wilkie AO, García-Minaur S, Heath KE
Am J Med Genet A 2011 Dec;155A(12):3050-3. Epub 2011 Oct 28 doi: 10.1002/ajmg.a.34199. PMID: 22038757
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
Kitoh H, Brodie SG, Kupke KG, Lachman RS, Wilcox WR
Hum Mutat 1998;12(5):362-3. PMID: 10671061

Clinical prediction guides

Suppression of severe achondroplasia with developmental delay and acanthosis nigricans by the p.Thr651Pro mutation.
Manickam K, Donoghue DJ, Meyer AN, Snyder PJ, Prior TW
Am J Med Genet A 2014 Jan;164A(1):243-50. Epub 2013 Oct 29 doi: 10.1002/ajmg.a.36236. PMID: 24352917
The molecular and genetic basis of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon syndrome with acanthosis nigricans.
Vajo Z, Francomano CA, Wilkin DJ
Endocr Rev 2000 Feb;21(1):23-39. doi: 10.1210/edrv.21.1.0387. PMID: 10696568
Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3.
Bellus GA, Bamshad MJ, Przylepa KA, Dorst J, Lee RR, Hurko O, Jabs EW, Curry CJ, Wilcox WR, Lachman RS, Rimoin DL, Francomano CA
Am J Med Genet 1999 Jul 2;85(1):53-65. PMID: 10377013
A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene.
Tavormina PL, Bellus GA, Webster MK, Bamshad MJ, Fraley AE, McIntosh I, Szabo J, Jiang W, Jabs EW, Wilcox WR, Wasmuth JJ, Donoghue DJ, Thompson LM, Francomano CA
Am J Hum Genet 1999 Mar;64(3):722-31. doi: 10.1086/302275. PMID: 10053006Free PMC Article
Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans.
Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW
Nat Genet 1995 Dec;11(4):462-4. doi: 10.1038/ng1295-462. PMID: 7493034

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