Short stature and melanocytic nevi in a girl with ARID1B-related Coffin-Siris syndrome: a case report.
Case report
Coffin-Siris syndrome
Congenital giant nevus
Short stature
Journal
BMC pediatrics
ISSN: 1471-2431
Titre abrégé: BMC Pediatr
Pays: England
ID NLM: 100967804
Informations de publication
Date de publication:
13 08 2022
13 08 2022
Historique:
received:
07
04
2022
accepted:
02
08
2022
entrez:
13
8
2022
pubmed:
14
8
2022
medline:
17
8
2022
Statut:
epublish
Résumé
Coffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported. Herein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature. Prominent characteristics of the cutaneous system were observed: (1) A congenital giant nevus from the left frontal and temporal regions to the entire left scalp; and (2) multiple melanocytic nevi on the face and trunk. Whole exome sequencing revealed a novel heterozygous variant in the ARID1B gene. Recombinant human growth hormone (rhGH) was given for short stature, and resulted in significantly improved height. No enlargement or malignant transformation of nevi occurred within 4 years of follow-up. The symptoms in cutaneous system is noteworthy,which may be a neglected phenotype in CSS.The therapeutic response of growth hormone is effective in this patient and no tumor related signs were found.
Sections du résumé
BACKGROUND
Coffin-Siris syndrome (CSS) is a rare autosomal dominant disorder characterized by intellectual disability, developmental delay, and characteristic facial features. Few patients with cutaneous phenotype in this rare syndrome have been reported.
CASE PRESENTATION
Herein, we describe a 12-year-old Chinese girl diagnosed with CSS, who was referred to our hospital because of intellectual disability and short stature. Prominent characteristics of the cutaneous system were observed: (1) A congenital giant nevus from the left frontal and temporal regions to the entire left scalp; and (2) multiple melanocytic nevi on the face and trunk. Whole exome sequencing revealed a novel heterozygous variant in the ARID1B gene. Recombinant human growth hormone (rhGH) was given for short stature, and resulted in significantly improved height. No enlargement or malignant transformation of nevi occurred within 4 years of follow-up.
CONCLUSION
The symptoms in cutaneous system is noteworthy,which may be a neglected phenotype in CSS.The therapeutic response of growth hormone is effective in this patient and no tumor related signs were found.
Identifiants
pubmed: 35964110
doi: 10.1186/s12887-022-03535-4
pii: 10.1186/s12887-022-03535-4
pmc: PMC9375425
doi:
Substances chimiques
ARID1B protein, human
0
DNA-Binding Proteins
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
486Informations de copyright
© 2022. The Author(s).
Références
Clin Genet. 2014 Jun;85(6):548-54
pubmed: 23815551
Am J Med Genet A. 2014 Jul;164A(7):1857-9
pubmed: 24700687
Eur J Dermatol. 2020 Jun 1;30(3):310-311
pubmed: 32666931
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Cell Rep. 2016 Mar 1;14(8):1979-90
pubmed: 26904939
Am J Med Genet A. 2019 May;179(5):808-812
pubmed: 30838730
Horm Res Paediatr. 2016;86(6):361-397
pubmed: 27884013
Horm Res Paediatr. 2017;88(1):22-37
pubmed: 28334714
Eur J Hum Genet. 2018 Aug;26(8):1083-1093
pubmed: 29706634
Am J Med Genet C Semin Med Genet. 2014 Sep;166C(3):262-75
pubmed: 25168959
Am J Med Genet. 2001 Feb 15;99(1):1-7
pubmed: 11170086
Genet Med. 2019 Jun;21(6):1295-1307
pubmed: 30349098
Am J Hum Genet. 2018 Mar 1;102(3):468-479
pubmed: 29429572
Hum Mutat. 2013 Nov;34(11):1519-28
pubmed: 23929686
Am J Dis Child. 1970 May;119(5):433-9
pubmed: 5442442
JAAD Case Rep. 2018 Dec 05;5(1):50-53
pubmed: 30581937
Cell Rep. 2016 May 10;15(6):1291-302
pubmed: 27134165