Short Anagen Hair Syndrome and Its Association With WNT10A Gene Variants: A Report of Three Pediatric Cases

被引:0
作者
Roman Mendoza, Nelly Marlene [1 ]
Louka, Magdalini [1 ]
Garcia-Gonzalez, Sergio [1 ]
Ortiz-Cabrera, Nelmar-Valentina [2 ]
Garoz, Barbara Fernandez [2 ]
Noguera-Morel, Lucero [1 ]
Hernandez-Martin, Angela [1 ]
机构
[1] Hosp Infantil Univ Nino Jesus, Dept Dermatol, Madrid, Spain
[2] Hosp Infantil Univ Nino Jesus, Dept Genet, Madrid, Spain
关键词
hair disorders; short anagen hair syndrome; trichogram; WNT10A;
D O I
10.1111/pde.15976
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Short anagen hair syndrome (SAHS) is a rare hair disorder characterized by a shortened anagen phase, limiting hair growth to a few centimeters. SAHS is a benign condition often improving after puberty, with diagnosis supported by clinical, trichological, and genetic findings. We report three pediatric cases of persistently short hair, all with negative hair pull tests and trichogram findings revealing club-shaped roots, tapering, and hair shaft diameter variability. Genetic testing identified the c.682 T>A;p.(Phe228Ile) variant in heterozygosity in the WNT10A gene in two patients, a variant reported as a risk factor for the condition.
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页数:3
相关论文
共 10 条
[1]  
Barraud-Klenovsek MM, 2000, BRIT J DERMATOL, V143, P612
[2]   Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss [J].
Cesarato, Nicole ;
Schwieger-Briel, Agnes ;
Gossmann, Yasmina ;
Henne, Sabrina K. ;
Hillmann, Kathrin ;
Frommherz, Leonie H. ;
Wehner, Maria ;
Xiong, Xing ;
Thiele, Holger ;
Oji, Vinzenz ;
Milani, Donatella ;
Tantcheva-Poor, Iliana ;
Giehl, Kathrin ;
Foelster-Holst, Regina ;
Teichler, Anne ;
Braeckmans, Delphine ;
Hoeger, Peter H. ;
Jones, Gabriela ;
Frank, Jorge ;
Weibel, Lisa ;
Blume-Peytavi, Ulrike ;
Hamm, Henning ;
Noethen, Markus M. ;
Geyer, Matthias ;
Heilmann-Heimbach, Stefanie ;
Basmanav, F. Buket ;
Betz, Regina C. .
BRITISH JOURNAL OF DERMATOLOGY, 2023, 189 (06) :741-749
[3]   WNT10A, dermatology and dentistry [J].
Doolan, B. J. ;
Onoufriadis, A. ;
Kantaputra, P. ;
McGrath, J. A. .
BRITISH JOURNAL OF DERMATOLOGY, 2021, 185 (06) :1105-1111
[4]   Ectodermal Dysplasias: A Clinical and Molecular Review [J].
Garcia-Martin, P. ;
Hernandez-Martin, A. ;
Torrelo, A. .
ACTAS DERMO-SIFILIOGRAFICAS, 2013, 104 (06) :451-470
[5]   The mutational constraint spectrum quantified from variation in 141,456 humans [J].
Karczewski, Konrad J. ;
Francioli, Laurent C. ;
Tiao, Grace ;
Cummings, Beryl B. ;
Alfoldi, Jessica ;
Wang, Qingbo ;
Collins, Ryan L. ;
Laricchia, Kristen M. ;
Ganna, Andrea ;
Birnbaum, Daniel P. ;
Gauthier, Laura D. ;
Brand, Harrison ;
Solomonson, Matthew ;
Watts, Nicholas A. ;
Rhodes, Daniel ;
Singer-Berk, Moriel ;
England, Eleina M. ;
Seaby, Eleanor G. ;
Kosmicki, Jack A. ;
Walters, Raymond K. ;
Tashman, Katherine ;
Farjoun, Yossi ;
Banks, Eric ;
Poterba, Timothy ;
Wang, Arcturus ;
Seed, Cotton ;
Whiffin, Nicola ;
Chong, Jessica X. ;
Samocha, Kaitlin E. ;
Pierce-Hoffman, Emma ;
Zappala, Zachary ;
O'Donnell-Luria, Anne H. ;
Minikel, Eric Vallabh ;
Weisburd, Ben ;
Lek, Monkol ;
Ware, James S. ;
Vittal, Christopher ;
Armean, Irina M. ;
Bergelson, Louis ;
Cibulskis, Kristian ;
Connolly, Kristen M. ;
Covarrubias, Miguel ;
Donnelly, Stacey ;
Ferriera, Steven ;
Gabriel, Stacey ;
Gentry, Jeff ;
Gupta, Namrata ;
Jeandet, Thibault ;
Kaplan, Diane ;
Llanwarne, Christopher .
NATURE, 2020, 581 (7809) :434-+
[6]   TRICHO-DENTAL SYNDROME - A DISORDER WITH A SHORT HAIR CYCLE [J].
KERSEY, PJW .
BRITISH JOURNAL OF DERMATOLOGY, 1987, 116 (02) :259-263
[7]   Novel variant in WNT10A caused short anagen hair syndrome in a Chinese pedigree [J].
Mo, Ran ;
Chen, Zhiming ;
Yang, Yong ;
Jiang, Yiqun .
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2024, 38 (11) :e976-e978
[8]   Analysis of Microscopic Examination of Pulled Out Hair in Telogen Effluvium Patients [J].
Park, So Hee ;
Seol, Jung Eun ;
Kim, Do Hyeong ;
Kim, Hyojin .
ANNALS OF DERMATOLOGY, 2020, 32 (02) :141-145
[9]   Short anagen syndrome: A case series and algorithm for diagnosis [J].
Starace, Michela ;
Gurioli, Carlotta ;
Carpanese, Miriam Anna ;
Bruni, Francesca ;
Piraccini, Bianca Maria ;
Patrizi, Annalisa ;
Alessandrini, Aurora .
PEDIATRIC DERMATOLOGY, 2021, 38 (05) :1157-1161
[10]   Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: Trichodental syndrome [J].
Stieler, Karola Maria ;
Bartzela, Theodosia ;
Finke, Christian ;
Blume-Peytavi, Ulrike ;
Fischer, Judith .
ACTA DERMATO-VENEREOLOGICA, 2020, 100