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Hypotrichosis 14(HYPT14)

MedGen UID:
1648477
Concept ID:
C4748930
Disease or Syndrome
Synonyms: HYPOTRICHOSIS 14; HYPT14
 
Gene (location): LSS (21q22.3)
 
Monarch Initiative: MONDO:0032649
OMIM®: 618275

Definition

Hypotrichosis-14 (HYPT14) is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair (Romano et al., 2018). For a discussion of genetic heterogeneity of hypotrichosis, see HYPT1 (605389). [from OMIM]

Clinical features

From HPO
Sparse pubic hair
MedGen UID:
388095
Concept ID:
C1858573
Finding
Reduced number or density of pubic hair.
Absent axillary hair
MedGen UID:
347869
Concept ID:
C1859392
Finding
Absence of axillary hair.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
Short eyelashes
MedGen UID:
411272
Concept ID:
C2748682
Finding
Decreased length of the eyelashes (subjective).
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Professional guidelines

PubMed

Wei D, Chen Y, Shen Y, Xie B, Song X
Front Immunol 2023;14:1152513. Epub 2023 Apr 17 doi: 10.3389/fimmu.2023.1152513. PMID: 37138884Free PMC Article
Iamsumang W, Leerunyakul K, Suchonwanit P
Drug Des Devel Ther 2020;14:951-959. Epub 2020 Mar 2 doi: 10.2147/DDDT.S240615. PMID: 32184564Free PMC Article
Kruse M, Abraham J
J Oncol Pract 2018 Mar;14(3):149-154. doi: 10.1200/JOP.17.00038. PMID: 29529389

Recent clinical studies

Etiology

Zhou W, Cai J, Li Z, Lin Y
Front Immunol 2023;14:1132719. Epub 2023 Mar 30 doi: 10.3389/fimmu.2023.1132719. PMID: 37063839Free PMC Article
King B, Zhang X, Harcha WG, Szepietowski JC, Shapiro J, Lynde C, Mesinkovska NA, Zwillich SH, Napatalung L, Wajsbrot D, Fayyad R, Freyman A, Mitra D, Purohit V, Sinclair R, Wolk R
Lancet 2023 May 6;401(10387):1518-1529. Epub 2023 Apr 14 doi: 10.1016/S0140-6736(23)00222-2. PMID: 37062298
Romero Pérez P
Arch Esp Urol 2022 Jun;75(5):382-399. doi: 10.56434/j.arch.esp.urol.20227505.56. PMID: 35983808
Gupta AK, Talukder M
J Cosmet Dermatol 2022 May;21(5):1841-1848. Epub 2022 Mar 14 doi: 10.1111/jocd.14895. PMID: 35238144
Vañó-Galván S, Pirmez R, Hermosa-Gelbard A, Moreno-Arrones ÓM, Saceda-Corralo D, Rodrigues-Barata R, Jimenez-Cauhe J, Koh WL, Poa JE, Jerjen R, Trindade de Carvalho L, John JM, Salas-Callo CI, Vincenzi C, Yin L, Lo-Sicco K, Waskiel-Burnat A, Starace M, Zamorano JL, Jaén-Olasolo P, Piraccini BM, Rudnicka L, Shapiro J, Tosti A, Sinclair R, Bhoyrul B
J Am Acad Dermatol 2021 Jun;84(6):1644-1651. Epub 2021 Feb 24 doi: 10.1016/j.jaad.2021.02.054. PMID: 33639244

Diagnosis

Zhou W, Cai J, Li Z, Lin Y
Front Immunol 2023;14:1132719. Epub 2023 Mar 30 doi: 10.3389/fimmu.2023.1132719. PMID: 37063839Free PMC Article
Li Y, Yang S, Liao M, Zheng Z, Li M, Wei X, Liu M, Yang L
Front Immunol 2022;13:1072573. Epub 2023 Jan 30 doi: 10.3389/fimmu.2022.1072573. PMID: 36798520Free PMC Article
Lopez-Leon S, Wegman-Ostrosky T, Perelman C, Sepulveda R, Rebolledo PA, Cuapio A, Villapol S
Sci Rep 2021 Aug 9;11(1):16144. doi: 10.1038/s41598-021-95565-8. PMID: 34373540Free PMC Article
Sheng X, Yan X, Wang L, Shi Y, Yao X, Luo H, Shi B, Liu J, He Z, Yu G, Ying J, Han W, Hu C, Ling Y, Chi Z, Cui C, Si L, Fang J, Zhou A, Guo J
Clin Cancer Res 2021 Jan 1;27(1):43-51. Epub 2020 Oct 27 doi: 10.1158/1078-0432.CCR-20-2488. PMID: 33109737
Meah N, Wall D, York K, Bhoyrul B, Bokhari L, Asz-Sigall D, Bergfeld WF, Betz RC, Blume-Peytavi U, Callender V, Chitreddy V, Combalia A, Cotsarelis G, Craiglow B, Donovan J, Eisman S, Farrant P, Green J, Grimalt R, Harries M, Hordinsky M, Irvine AD, Itami S, Jolliffe V, King B, Lee WS, McMichael A, Messenger A, Mirmirani P, Olsen E, Orlow SJ, Piraccini BM, Rakowska A, Reygagne P, Roberts JL, Rudnicka L, Shapiro J, Sharma P, Tosti A, Vogt A, Wade M, Yip L, Zlotogorski A, Sinclair RD
J Am Acad Dermatol 2021 Jun;84(6):1594-1601. Epub 2020 Sep 12 doi: 10.1016/j.jaad.2020.09.028. PMID: 32926985

Therapy

King B, Zhang X, Harcha WG, Szepietowski JC, Shapiro J, Lynde C, Mesinkovska NA, Zwillich SH, Napatalung L, Wajsbrot D, Fayyad R, Freyman A, Mitra D, Purohit V, Sinclair R, Wolk R
Lancet 2023 May 6;401(10387):1518-1529. Epub 2023 Apr 14 doi: 10.1016/S0140-6736(23)00222-2. PMID: 37062298
Gupta AK, Talukder M
J Cosmet Dermatol 2022 May;21(5):1841-1848. Epub 2022 Mar 14 doi: 10.1111/jocd.14895. PMID: 35238144
Gupta AK, Talukder M, Venkataraman M, Bamimore MA
J Dermatolog Treat 2022 Jun;33(4):1896-1906. Epub 2021 Jul 20 doi: 10.1080/09546634.2021.1945527. PMID: 34159872
Vañó-Galván S, Pirmez R, Hermosa-Gelbard A, Moreno-Arrones ÓM, Saceda-Corralo D, Rodrigues-Barata R, Jimenez-Cauhe J, Koh WL, Poa JE, Jerjen R, Trindade de Carvalho L, John JM, Salas-Callo CI, Vincenzi C, Yin L, Lo-Sicco K, Waskiel-Burnat A, Starace M, Zamorano JL, Jaén-Olasolo P, Piraccini BM, Rudnicka L, Shapiro J, Tosti A, Sinclair R, Bhoyrul B
J Am Acad Dermatol 2021 Jun;84(6):1644-1651. Epub 2021 Feb 24 doi: 10.1016/j.jaad.2021.02.054. PMID: 33639244
Choi BY
Int J Mol Sci 2020 Jul 12;21(14) doi: 10.3390/ijms21144915. PMID: 32664659Free PMC Article

Prognosis

Zhou W, Cai J, Li Z, Lin Y
Front Immunol 2023;14:1132719. Epub 2023 Mar 30 doi: 10.3389/fimmu.2023.1132719. PMID: 37063839Free PMC Article
Li Y, Yang S, Liao M, Zheng Z, Li M, Wei X, Liu M, Yang L
Front Immunol 2022;13:1072573. Epub 2023 Jan 30 doi: 10.3389/fimmu.2022.1072573. PMID: 36798520Free PMC Article
Diotallevi F, Campanati A, Martina E, Radi G, Paolinelli M, Marani A, Molinelli E, Candelora M, Taus M, Galeazzi T, Nicolai A, Offidani A
Nutrients 2022 Jan 29;14(3) doi: 10.3390/nu14030591. PMID: 35276950Free PMC Article
Sheng X, Yan X, Wang L, Shi Y, Yao X, Luo H, Shi B, Liu J, He Z, Yu G, Ying J, Han W, Hu C, Ling Y, Chi Z, Cui C, Si L, Fang J, Zhou A, Guo J
Clin Cancer Res 2021 Jan 1;27(1):43-51. Epub 2020 Oct 27 doi: 10.1158/1078-0432.CCR-20-2488. PMID: 33109737
Meah N, Wall D, York K, Bhoyrul B, Bokhari L, Asz-Sigall D, Bergfeld WF, Betz RC, Blume-Peytavi U, Callender V, Chitreddy V, Combalia A, Cotsarelis G, Craiglow B, Donovan J, Eisman S, Farrant P, Green J, Grimalt R, Harries M, Hordinsky M, Irvine AD, Itami S, Jolliffe V, King B, Lee WS, McMichael A, Messenger A, Mirmirani P, Olsen E, Orlow SJ, Piraccini BM, Rakowska A, Reygagne P, Roberts JL, Rudnicka L, Shapiro J, Sharma P, Tosti A, Vogt A, Wade M, Yip L, Zlotogorski A, Sinclair RD
J Am Acad Dermatol 2021 Jun;84(6):1594-1601. Epub 2020 Sep 12 doi: 10.1016/j.jaad.2020.09.028. PMID: 32926985

Clinical prediction guides

Mateos-Haro M, Novoa-Candia M, Sánchez Vanegas G, Correa-Pérez A, Gaetano Gil A, Fernández-García S, Ortega-Quijano D, Urueña Rodriguez MG, Saceda-Corralo D, Bennouna-Dalero T, Giraldo L, Tomlinson J, Vaño-Galván S, Zamora J
Cochrane Database Syst Rev 2023 Oct 23;10(10):CD013719. doi: 10.1002/14651858.CD013719.pub2. PMID: 37870096Free PMC Article
Zhou W, Cai J, Li Z, Lin Y
Front Immunol 2023;14:1132719. Epub 2023 Mar 30 doi: 10.3389/fimmu.2023.1132719. PMID: 37063839Free PMC Article
King B, Zhang X, Harcha WG, Szepietowski JC, Shapiro J, Lynde C, Mesinkovska NA, Zwillich SH, Napatalung L, Wajsbrot D, Fayyad R, Freyman A, Mitra D, Purohit V, Sinclair R, Wolk R
Lancet 2023 May 6;401(10387):1518-1529. Epub 2023 Apr 14 doi: 10.1016/S0140-6736(23)00222-2. PMID: 37062298
Vañó-Galván S, Pirmez R, Hermosa-Gelbard A, Moreno-Arrones ÓM, Saceda-Corralo D, Rodrigues-Barata R, Jimenez-Cauhe J, Koh WL, Poa JE, Jerjen R, Trindade de Carvalho L, John JM, Salas-Callo CI, Vincenzi C, Yin L, Lo-Sicco K, Waskiel-Burnat A, Starace M, Zamorano JL, Jaén-Olasolo P, Piraccini BM, Rudnicka L, Shapiro J, Tosti A, Sinclair R, Bhoyrul B
J Am Acad Dermatol 2021 Jun;84(6):1644-1651. Epub 2021 Feb 24 doi: 10.1016/j.jaad.2021.02.054. PMID: 33639244
Sheng X, Yan X, Wang L, Shi Y, Yao X, Luo H, Shi B, Liu J, He Z, Yu G, Ying J, Han W, Hu C, Ling Y, Chi Z, Cui C, Si L, Fang J, Zhou A, Guo J
Clin Cancer Res 2021 Jan 1;27(1):43-51. Epub 2020 Oct 27 doi: 10.1158/1078-0432.CCR-20-2488. PMID: 33109737

Recent systematic reviews

Mateos-Haro M, Novoa-Candia M, Sánchez Vanegas G, Correa-Pérez A, Gaetano Gil A, Fernández-García S, Ortega-Quijano D, Urueña Rodriguez MG, Saceda-Corralo D, Bennouna-Dalero T, Giraldo L, Tomlinson J, Vaño-Galván S, Zamora J
Cochrane Database Syst Rev 2023 Oct 23;10(10):CD013719. doi: 10.1002/14651858.CD013719.pub2. PMID: 37870096Free PMC Article
Wei D, Chen Y, Shen Y, Xie B, Song X
Front Immunol 2023;14:1152513. Epub 2023 Apr 17 doi: 10.3389/fimmu.2023.1152513. PMID: 37138884Free PMC Article
Lopez-Leon S, Wegman-Ostrosky T, Perelman C, Sepulveda R, Rebolledo PA, Cuapio A, Villapol S
Sci Rep 2021 Aug 9;11(1):16144. doi: 10.1038/s41598-021-95565-8. PMID: 34373540Free PMC Article
Hesseler MJ, Shyam N
J Am Acad Dermatol 2019 Sep;81(3):834-846. Epub 2019 Apr 19 doi: 10.1016/j.jaad.2019.04.037. PMID: 31009668
Zhou Z, Song S, Gao Z, Wu J, Ma J, Cui Y
Clin Interv Aging 2019;14:399-406. Epub 2019 Feb 20 doi: 10.2147/CIA.S192435. PMID: 30863034Free PMC Article

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