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Hypotrichosis 12(HYPT12)

MedGen UID:
863000
•Concept ID:
C4014563
•
Disease or Syndrome
Synonym: HYPT12
 
Gene (location): RPL21 (13q12.2)
 
Monarch Initiative: MONDO:0014384
OMIM®: 615885

Definition

Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene. [from MONDO]

Clinical features

From HPO
Abnormality of the dentition
MedGen UID:
78084
•Concept ID:
C0262444
•
Finding
Any abnormality of the teeth.
See: Feature record | Search on this feature
Sparse scalp hair
MedGen UID:
346499
•Concept ID:
C1857042
•
Finding
Decreased number of hairs per unit area of skin of the scalp.
See: Feature record | Search on this feature
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
892938
•Concept ID:
C4021956
•
Finding
Absence or underdevelopment of the eyebrow.
See: Feature record | Search on this feature
Abnormal sweat gland morphology
MedGen UID:
892310
•Concept ID:
C0262643
•
Anatomical Abnormality
Any structural abnormality of the sweat gland.
See: Feature record | Search on this feature
Dry hair
MedGen UID:
75809
•Concept ID:
C0277960
•
Finding
Hair that lacks the luster (shine or gleam) of normal hair.
See: Feature record | Search on this feature
Abnormal nail morphology
MedGen UID:
163115
•Concept ID:
C0853087
•
Anatomical Abnormality
Abnormal structure or appearance of the nail.
See: Feature record | Search on this feature
Slow-growing hair
MedGen UID:
371309
•Concept ID:
C1832348
•
Finding
Hair whose growth is slower than normal.
See: Feature record | Search on this feature
Sparse pubic hair
MedGen UID:
388095
•Concept ID:
C1858573
•
Finding
Reduced number or density of pubic hair.
See: Feature record | Search on this feature
Sparse axillary hair
MedGen UID:
348975
•Concept ID:
C1858574
•
Finding
Reduced number or density of axillary hair.
See: Feature record | Search on this feature
Sparse or absent eyelashes
MedGen UID:
764345
•Concept ID:
C3551431
•
Finding
See: Feature record | Search on this feature
Abnormality of the skin
MedGen UID:
1845238
•Concept ID:
C5848159
•
Anatomical Abnormality
An abnormality of the skin.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

European expert consensus statement on the systemic treatment of alopecia areata.
Rudnicka L, Arenbergerova M, Grimalt R, Ioannides D, Katoulis AC, Lazaridou E, Olszewska M, Ovcharenko YS, Piraccini BM, Prohic A, Rakowska A, Reygagne P, Richard MA, Soares RO, Starace M, Vañó-Galvan S, Waskiel-Burnat A
J Eur Acad Dermatol Venereol 2024 Apr;38(4):687-694. Epub 2024 Jan 2 doi: 10.1111/jdv.19768. PMID: 38169088
Treatment options for androgenetic alopecia: Efficacy, side effects, compliance, financial considerations, and ethics.
Nestor MS, Ablon G, Gade A, Han H, Fischer DL
J Cosmet Dermatol 2021 Dec;20(12):3759-3781. Epub 2021 Nov 6 doi: 10.1111/jocd.14537. PMID: 34741573Free PMC Article
Hair loss and herbs for treatment.
Lourith N, Kanlayavattanakul M
J Cosmet Dermatol 2013 Sep;12(3):210-22. doi: 10.1111/jocd.12051. PMID: 23992163

Recent clinical studies

Etiology

Efficacy and safety of ritlecitinib in adults and adolescents with alopecia areata: a randomised, double-blind, multicentre, phase 2b-3 trial.
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
Efficacy and safety of topical finasteride spray solution for male androgenetic alopecia: a phase III, randomized, controlled clinical trial.
Piraccini BM, Blume-Peytavi U, Scarci F, Jansat JM, Falqués M, Otero R, Tamarit ML, Galván J, Tebbs V, Massana E; Topical Finasteride Study Group
J Eur Acad Dermatol Venereol 2022 Feb;36(2):286-294. Epub 2021 Oct 25 doi: 10.1111/jdv.17738. PMID: 34634163Free PMC Article
Finasteride for hair loss: a review.
Gupta AK, Venkataraman M, Talukder M, Bamimore MA
J Dermatolog Treat 2022 Jun;33(4):1938-1946. Epub 2021 Aug 2 doi: 10.1080/09546634.2021.1959506. PMID: 34291720
Pediatric Alopecia Areata.
Afford R, Leung AKC, Lam JM
Curr Pediatr Rev 2021;17(1):45-54. doi: 10.2174/1573396316666200430084825. PMID: 32351186
Interventions for female pattern hair loss.
van Zuuren EJ, Fedorowicz Z, Schoones J
Cochrane Database Syst Rev 2016 May 26;2016(5):CD007628. doi: 10.1002/14651858.CD007628.pub4. PMID: 27225981Free PMC Article

Diagnosis

Autoimmune and Autoinflammatory Connective Tissue Disorders Following COVID-19.
Lim SH, Ju HJ, Han JH, Lee JH, Lee WS, Bae JM, Lee S
JAMA Netw Open 2023 Oct 2;6(10):e2336120. doi: 10.1001/jamanetworkopen.2023.36120. PMID: 37801317Free PMC Article
Relative Efficacy of Minoxidil and the 5-α Reductase Inhibitors in Androgenetic Alopecia Treatment of Male Patients: A Network Meta-analysis.
Gupta AK, Venkataraman M, Talukder M, Bamimore MA
JAMA Dermatol 2022 Mar 1;158(3):266-274. doi: 10.1001/jamadermatol.2021.5743. PMID: 35107565Free PMC Article
Pediatric Alopecia Areata.
Afford R, Leung AKC, Lam JM
Curr Pediatr Rev 2021;17(1):45-54. doi: 10.2174/1573396316666200430084825. PMID: 32351186
Treatment of alopecia areata: An Australian expert consensus statement.
Cranwell WC, Lai VW, Photiou L, Meah N, Wall D, Rathnayake D, Joseph S, Chitreddy V, Gunatheesan S, Sindhu K, Sharma P, Green J, Eisman S, Yip L, Jones L, Sinclair R
Australas J Dermatol 2019 May;60(2):163-170. Epub 2018 Nov 8 doi: 10.1111/ajd.12941. PMID: 30411329
Hair Loss Myths.
DiMarco G, McMichael A
J Drugs Dermatol 2017 Jul 1;16(7):690-694. PMID: 28697221

Therapy

European expert consensus statement on the systemic treatment of alopecia areata.
Rudnicka L, Arenbergerova M, Grimalt R, Ioannides D, Katoulis AC, Lazaridou E, Olszewska M, Ovcharenko YS, Piraccini BM, Prohic A, Rakowska A, Reygagne P, Richard MA, Soares RO, Starace M, Vañó-Galvan S, Waskiel-Burnat A
J Eur Acad Dermatol Venereol 2024 Apr;38(4):687-694. Epub 2024 Jan 2 doi: 10.1111/jdv.19768. PMID: 38169088
Efficacy and safety of ritlecitinib in adults and adolescents with alopecia areata: a randomised, double-blind, multicentre, phase 2b-3 trial.
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
Microneedling for Hair Loss.
Gupta AK, Quinlan EM, Venkataraman M, Bamimore MA
J Cosmet Dermatol 2022 Jan;21(1):108-117. Epub 2021 Oct 29 doi: 10.1111/jocd.14525. PMID: 34714971
Efficacy and safety of topical finasteride spray solution for male androgenetic alopecia: a phase III, randomized, controlled clinical trial.
Piraccini BM, Blume-Peytavi U, Scarci F, Jansat JM, Falqués M, Otero R, Tamarit ML, Galván J, Tebbs V, Massana E; Topical Finasteride Study Group
J Eur Acad Dermatol Venereol 2022 Feb;36(2):286-294. Epub 2021 Oct 25 doi: 10.1111/jdv.17738. PMID: 34634163Free PMC Article
Treatment options for androgenetic alopecia: Efficacy, side effects, compliance, financial considerations, and ethics.
Nestor MS, Ablon G, Gade A, Han H, Fischer DL
J Cosmet Dermatol 2021 Dec;20(12):3759-3781. Epub 2021 Nov 6 doi: 10.1111/jocd.14537. PMID: 34741573Free PMC Article

Prognosis

Novel investigational drugs for alopecia areata and future perspectives.
Chim I, Ghiya R, Sinclair RD, Eisman S
Expert Opin Investig Drugs 2024 May;33(5):441-449. Epub 2024 May 20 doi: 10.1080/13543784.2024.2348062. PMID: 38682280
The Role of Serum Th1, Th2, and Th17 Cytokines in Patients with Alopecia Areata: Clinical Implications.
Waśkiel-Burnat A, Osińska M, Salińska A, Blicharz L, Goldust M, Olszewska M, Rudnicka L
Cells 2021 Dec 2;10(12) doi: 10.3390/cells10123397. PMID: 34943905Free PMC Article
Microneedling in androgenetic alopecia; comparing two different depths of microneedles.
Faghihi G, Nabavinejad S, Mokhtari F, Fatemi Naeini F, Iraji F
J Cosmet Dermatol 2021 Apr;20(4):1241-1247. Epub 2020 Sep 29 doi: 10.1111/jocd.13714. PMID: 32897622
Pediatric Alopecia Areata.
Afford R, Leung AKC, Lam JM
Curr Pediatr Rev 2021;17(1):45-54. doi: 10.2174/1573396316666200430084825. PMID: 32351186
Treatment of alopecia areata: An Australian expert consensus statement.
Cranwell WC, Lai VW, Photiou L, Meah N, Wall D, Rathnayake D, Joseph S, Chitreddy V, Gunatheesan S, Sindhu K, Sharma P, Green J, Eisman S, Yip L, Jones L, Sinclair R
Australas J Dermatol 2019 May;60(2):163-170. Epub 2018 Nov 8 doi: 10.1111/ajd.12941. PMID: 30411329

Clinical prediction guides

European expert consensus statement on the systemic treatment of alopecia areata.
Rudnicka L, Arenbergerova M, Grimalt R, Ioannides D, Katoulis AC, Lazaridou E, Olszewska M, Ovcharenko YS, Piraccini BM, Prohic A, Rakowska A, Reygagne P, Richard MA, Soares RO, Starace M, Vañó-Galvan S, Waskiel-Burnat A
J Eur Acad Dermatol Venereol 2024 Apr;38(4):687-694. Epub 2024 Jan 2 doi: 10.1111/jdv.19768. PMID: 38169088
Efficacy and safety of ritlecitinib in adults and adolescents with alopecia areata: a randomised, double-blind, multicentre, phase 2b-3 trial.
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
Current application of mesotherapy in pattern hair loss: A systematic review.
Tang Z, Hu Y, Wang J, Fan Z, Qu Q, Miao Y
J Cosmet Dermatol 2022 Oct;21(10):4184-4193. Epub 2022 Mar 14 doi: 10.1111/jocd.14900. PMID: 35253335
Efficacy and safety of topical finasteride spray solution for male androgenetic alopecia: a phase III, randomized, controlled clinical trial.
Piraccini BM, Blume-Peytavi U, Scarci F, Jansat JM, Falqués M, Otero R, Tamarit ML, Galván J, Tebbs V, Massana E; Topical Finasteride Study Group
J Eur Acad Dermatol Venereol 2022 Feb;36(2):286-294. Epub 2021 Oct 25 doi: 10.1111/jdv.17738. PMID: 34634163Free PMC Article
Pediatric Alopecia Areata.
Afford R, Leung AKC, Lam JM
Curr Pediatr Rev 2021;17(1):45-54. doi: 10.2174/1573396316666200430084825. PMID: 32351186

Recent systematic reviews

Treatments for alopecia areata: a network meta-analysis.
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
Human Stem Cell Use in Androgenetic Alopecia: A Systematic Review.
Krefft-Trzciniecka K, Piętowska Z, Nowicka D, Szepietowski JC
Cells 2023 Mar 21;12(6) doi: 10.3390/cells12060951. PMID: 36980291Free PMC Article
Current application of mesotherapy in pattern hair loss: A systematic review.
Tang Z, Hu Y, Wang J, Fan Z, Qu Q, Miao Y
J Cosmet Dermatol 2022 Oct;21(10):4184-4193. Epub 2022 Mar 14 doi: 10.1111/jocd.14900. PMID: 35253335
Adverse Sexual Effects of Treatment with Finasteride or Dutasteride for Male Androgenetic Alopecia: A Systematic Review and Meta-analysis.
Lee S, Lee YB, Choe SJ, Lee WS
Acta Derm Venereol 2019 Jan 1;99(1):12-17. doi: 10.2340/00015555-3035. PMID: 30206635
Interventions for female pattern hair loss.
van Zuuren EJ, Fedorowicz Z, Schoones J
Cochrane Database Syst Rev 2016 May 26;2016(5):CD007628. doi: 10.1002/14651858.CD007628.pub4. PMID: 27225981Free PMC Article

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