PMID- 31736117
OWN - NLM
STAT- MEDLINE
DCOM- 20210104
LR  - 20210302
IS  - 1468-3083 (Electronic)
IS  - 0926-9959 (Print)
IS  - 0926-9959 (Linking)
VI  - 34
IP  - 3
DP  - 2020 Mar
TI  - Comparison of hair manifestations in cardio-facio-cutaneous and Costello 
      syndromes highlights the influence of the RAS pathway on hair growth.
PG  - 601-607
LID - 10.1111/jdv.16082 [doi]
AB  - BACKGROUND: Abnormal hair growth is a defining feature of RASopathies, syndromes 
      caused by germline mutations in the RAS pathway. However, detailed hair 
      manifestations and the mechanisms of altered hair growth in RASopathies are 
      poorly delineated. OBJECTIVES: To identify distinguishing clinical features and 
      investigate how the RAS pathway influences hair growth by performing a systematic 
      and detailed side-by-side comparison of hair manifestations in 
      cardio-facio-cutaneous syndrome (CFCS) and Costello syndrome (CS), two 
      RASopathies caused by mutations in the downstream and upstream elements of the 
      RAS pathway, respectively. METHODS: Sixteen individuals with CFCS and 23 
      individuals with CS were enrolled. Mutation data were recorded. Scalp hair, 
      eyebrows and eyelashes of individuals with CFCS or CS were examined for texture, 
      colour, density and morphology. Scalp hairs were examined by light microscopy. 
      RESULTS: While both syndromes displayed abnormal hair, striking differences were 
      observed, including darker and thicker scalp hair and sparse eyebrows and 
      eyelashes in CFCS. By contrast, synophrys, trichomegaly and abnormalities of the 
      scalp hair shafts were observed in CS. Possible correlation with straight hair 
      and genotype was observed in CS. CONCLUSION: The results emphasize the role of 
      the RAS pathway in hair growth, improve accuracy of clinical diagnosis of CFCS 
      and CS and provide a foundation for identification of therapeutic targets.
CI  - (c) 2019 European Academy of Dermatology and Venereology.
FAU - Urban, J
AU  - Urban J
AUID- ORCID: 0000-0001-6197-8123
AD  - Department of Dermatology, University of California, Davis, Sacramento, CA, USA.
FAU - Qi, L
AU  - Qi L
AUID- ORCID: 0000-0002-9108-5390
AD  - Department of Public Health Sciences, University of California, Davis, Davis, CA, 
      USA.
FAU - Zhao, H
AU  - Zhao H
AUID- ORCID: 0000-0003-0179-1484
AD  - Department of Food Science, Zhejiang University, Hangzhou, China.
FAU - Rybak, I
AU  - Rybak I
AUID- ORCID: 0000-0001-9136-5184
AD  - Department of Dermatology, University of California, Davis, Sacramento, CA, USA.
FAU - Rauen, K A
AU  - Rauen KA
AUID- ORCID: 0000-0003-1719-7228
AD  - Department of Pediatrics, University of California, Davis, Sacramento, CA, USA.
FAU - Kiuru, M
AU  - Kiuru M
AUID- ORCID: 0000-0002-7010-5516
AD  - Department of Dermatology, University of California, Davis, Sacramento, CA, USA.
AD  - Department of Pathology and Laboratory Medicine, University of California, Davis, 
      Sacramento, CA, USA.
LA  - eng
GR  - #R01AR062165/NH/NIH HHS/United States
GR  - P30 CA093373/CA/NCI NIH HHS/United States
GR  - Dermatology Foundation/
GR  - P30CA093373-04/University of California Davis Comprehensive Cancer Center Support 
      Grant/
GR  - K12 CA138464/CA/NCI NIH HHS/United States
GR  - #K12CA138464/NH/NIH HHS/United States
GR  - R01 AR062165/AR/NIAMS NIH HHS/United States
PT  - Comparative Study
PT  - Journal Article
DEP - 20200102
PL  - England
TA  - J Eur Acad Dermatol Venereol
JT  - Journal of the European Academy of Dermatology and Venereology : JEADV
JID - 9216037
RN  - EC 3.6.5.2 (ras Proteins)
RN  - Cardiofaciocutaneous syndrome
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - Costello Syndrome/*complications
MH  - Ectodermal Dysplasia/*complications
MH  - Facies
MH  - Failure to Thrive/*complications
MH  - Female
MH  - Hair/*growth & development
MH  - Hair Diseases/*etiology
MH  - Heart Defects, Congenital/*complications
MH  - Humans
MH  - Male
MH  - Signal Transduction
MH  - Young Adult
MH  - ras Proteins/*physiology
PMC - PMC7050334
MID - NIHMS1060026
COIS- Conflict of interest: The authors state no conflicts of interest.
EDAT- 2019/11/19 06:00
MHDA- 2021/01/05 06:00
PMCR- 2021/03/01
CRDT- 2019/11/19 06:00
PHST- 2019/06/05 00:00 [received]
PHST- 2019/11/13 00:00 [accepted]
PHST- 2019/11/19 06:00 [pubmed]
PHST- 2021/01/05 06:00 [medline]
PHST- 2019/11/19 06:00 [entrez]
PHST- 2021/03/01 00:00 [pmc-release]
AID - 10.1111/jdv.16082 [doi]
PST - ppublish
SO  - J Eur Acad Dermatol Venereol. 2020 Mar;34(3):601-607. doi: 10.1111/jdv.16082. 
      Epub 2020 Jan 2.