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Hypotrichosis 12(HYPT12)

MedGen UID:: 863000
•Concept ID:: C4014563
•: Disease or Syndrome

Synonym:	HYPT12

Gene (location): Gene(s) directly associated with this condition or phenotype.	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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Abnormality of head or neck
Abnormality of the integument

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: 34741573 Free 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

See all (166)

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

Post-Finasteride Syndrome. Literature Review.

Romero Pérez P
Arch Esp Urol 2022 Jun;75(5):382-399. doi: 10.56434/j.arch.esp.urol.20227505.56. PMID: 35983808

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: 34634163 Free 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

Efficacy and safety of the oral Janus kinase inhibitor baricitinib in the treatment of adults with alopecia areata: Phase 2 results from a randomized controlled study.

King B, Ko J, Forman S, Ohyama M, Mesinkovska N, Yu G, McCollam J, Gamalo M, Janes J, Edson-Heredia E, Holzwarth K, Dutronc Y
J Am Acad Dermatol 2021 Oct;85(4):847-853. Epub 2021 Jun 16 doi: 10.1016/j.jaad.2021.05.050. PMID: 34090959

See all (817)

Diagnosis

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

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

Folliculotropic mycosis fungoides.

Feng H, Beasley J, Meehan S, Liebman TN
Dermatol Online J 2018 Dec 15;24(12) PMID: 30677794

Natural hair patterns.

Parsley WM
Facial Plast Surg Clin North Am 2004 May;12(2):167-80. doi: 10.1016/j.fsc.2003.12.006. PMID: 15135127

See all (503)

Therapy

European expert consensus statement on the systemic treatment of alopecia areata.

Efficacy and safety of topical finasteride spray solution for male androgenetic alopecia: a phase III, randomized, controlled clinical trial.

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

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: 34741573 Free 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

See all (881)

Prognosis

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: 34943905 Free PMC Article

The Alopecia Areata Consensus of Experts (ACE) study part II: Results of an international expert opinion on diagnosis and laboratory evaluation for alopecia areata.

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

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.

Folliculotropic mycosis fungoides.

Feng H, Beasley J, Meehan S, Liebman TN
Dermatol Online J 2018 Dec 15;24(12) PMID: 30677794

See all (351)

Clinical prediction guides

European expert consensus statement on the systemic treatment of alopecia areata.

Efficacy and safety of ritlecitinib in adults and adolescents with alopecia areata: a randomised, double-blind, multicentre, phase 2b-3 trial.

Efficacy and safety of topical finasteride spray solution for male androgenetic alopecia: a phase III, randomized, controlled clinical trial.

Efficacy and safety of the oral Janus kinase inhibitor baricitinib in the treatment of adults with alopecia areata: Phase 2 results from a randomized controlled study.

Pediatric Alopecia Areata.

Afford R, Leung AKC, Lam JM
Curr Pediatr Rev 2021;17(1):45-54. doi: 10.2174/1573396316666200430084825. PMID: 32351186

See all (561)

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: 37870096 Free 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: 36980291 Free 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

Systematic Review of Platelet-Rich Plasma Use in Androgenetic Alopecia Compared with Minoxidil(®), Finasteride(®), and Adult Stem Cell-Based Therapy.

Gentile P, Garcovich S
Int J Mol Sci 2020 Apr 13;21(8) doi: 10.3390/ijms21082702. PMID: 32295047 Free PMC Article

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

See all (60)

MedGen

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Hypotrichosis 12(HYPT12)

Definition

Clinical features

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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