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Hypotrichosis 13(HYPT13)

MedGen UID:
863053
•Concept ID:
C4014616
•
Disease or Syndrome
Synonyms: HYPOTRICHOSIS WITH WOOLLY HAIR; HYPT13
 
Gene (location): KRT71 (12q13.13)
 
Monarch Initiative: MONDO:0014390
OMIM®: 615896

Definition

Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene. [from MONDO]

Clinical features

From HPO
Abnormal dental morphology
MedGen UID:
11849
•Concept ID:
C0040427
•
Anatomical Abnormality
An abnormality of the morphology of the tooth.
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
Wooly hair
MedGen UID:
87469
•Concept ID:
C0343073
•
Finding
The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
See: Feature record | Search on this feature
Sparse eyelashes
MedGen UID:
375151
•Concept ID:
C1843300
•
Finding
Decreased density/number of eyelashes.
See: Feature record | Search on this feature
Abnormal skin morphology
MedGen UID:
869110
•Concept ID:
C4023528
•
Anatomical Abnormality
Any morphological abnormality of the skin.
See: Feature record | Search on this feature
Sparse hair
MedGen UID:
1790211
•Concept ID:
C5551005
•
Finding
Reduced density of hairs.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Baricitinib for the Treatment of Alopecia Areata.
Freitas E, Guttman-Yassky E, Torres T
Drugs 2023 Jun;83(9):761-770. Epub 2023 May 17 doi: 10.1007/s40265-023-01873-w. PMID: 37195491Free PMC Article
Therapeutic management in paediatric alopecia areata: A systematic review.
Waśkiel-Burnat A, Kołodziejak M, Sikora M, Stochmal A, Rakowska A, Olszewska M, Rudnicka L
J Eur Acad Dermatol Venereol 2021 Jun;35(6):1299-1308. doi: 10.1111/jdv.17187. PMID: 33630354
Treatment of hair loss.
Price VH
N Engl J Med 1999 Sep 23;341(13):964-73. doi: 10.1056/NEJM199909233411307. PMID: 10498493

Recent clinical studies

Etiology

Scalp Cooling in Preventing Persistent Chemotherapy-Induced Alopecia: A Randomized Controlled Trial.
Kang D, Cho J, Zhao D, Kim J, Kim N, Kim H, Kim S, Kim JY, Park YH, Im YH, Guallar E, Ahn JS
J Clin Oncol 2024 Sep 10;42(26):3115-3122. Epub 2024 Jun 6 doi: 10.1200/JCO.23.02374. PMID: 38843479
Causal role of immune cells in alopecia areata: A two-sample Mendelian randomization study.
Xu W, Shen Y, Sun J, Wei D, Xie B, Song X
Skin Res Technol 2024 Jan;30(1):e13579. doi: 10.1111/srt.13579. PMID: 38221794Free PMC Article
Rosemary oil vs minoxidil 2% for the treatment of androgenetic alopecia: a randomized comparative trial.
Panahi Y, Taghizadeh M, Marzony ET, Sahebkar A
Skinmed 2015 Jan-Feb;13(1):15-21. PMID: 25842469
The endocrinology of baldness.
Batrinos ML
Hormones (Athens) 2014 Apr-Jun;13(2):197-212. doi: 10.1007/BF03401334. PMID: 24776620
Onion juice (Allium cepa L.), a new topical treatment for alopecia areata.
Sharquie KE, Al-Obaidi HK
J Dermatol 2002 Jun;29(6):343-6. doi: 10.1111/j.1346-8138.2002.tb00277.x. PMID: 12126069

Diagnosis

Scalp Cooling in Preventing Persistent Chemotherapy-Induced Alopecia: A Randomized Controlled Trial.
Kang D, Cho J, Zhao D, Kim J, Kim N, Kim H, Kim S, Kim JY, Park YH, Im YH, Guallar E, Ahn JS
J Clin Oncol 2024 Sep 10;42(26):3115-3122. Epub 2024 Jun 6 doi: 10.1200/JCO.23.02374. PMID: 38843479
Causal role of immune cells in alopecia areata: A two-sample Mendelian randomization study.
Xu W, Shen Y, Sun J, Wei D, Xie B, Song X
Skin Res Technol 2024 Jan;30(1):e13579. doi: 10.1111/srt.13579. PMID: 38221794Free PMC Article
Headgear-induced temporary pressure alopecia.
Liu C, Abbas F, Seehra J
J Orthod 2019 Dec;46(4):335-342. Epub 2019 Sep 18 doi: 10.1177/1465312519876948. PMID: 31533517
Infliximab-induced lichen planopilaris.
Fernández-Torres R, Paradela S, Valbuena L, Fonseca E
Ann Pharmacother 2010 Sep;44(9):1501-3. Epub 2010 Aug 11 doi: 10.1345/aph.1P079. PMID: 20702759
Hair loss: an overview.
Mulinari-Brenner F, Bergfeld WF
Dermatol Nurs 2001 Aug;13(4):269-72, 277-8. PMID: 11917783

Therapy

Scalp Cooling in Preventing Persistent Chemotherapy-Induced Alopecia: A Randomized Controlled Trial.
Kang D, Cho J, Zhao D, Kim J, Kim N, Kim H, Kim S, Kim JY, Park YH, Im YH, Guallar E, Ahn JS
J Clin Oncol 2024 Sep 10;42(26):3115-3122. Epub 2024 Jun 6 doi: 10.1200/JCO.23.02374. PMID: 38843479
Causal role of immune cells in alopecia areata: A two-sample Mendelian randomization study.
Xu W, Shen Y, Sun J, Wei D, Xie B, Song X
Skin Res Technol 2024 Jan;30(1):e13579. doi: 10.1111/srt.13579. PMID: 38221794Free PMC Article
Potential Indications of Dupilumab in Th-2 Inflammatory Disease.
Ilaria P, Nevena S, Ersilia T, Nicoletta B, Federica T, Di Fraia M, Agniezska D, Concetta P
Rev Recent Clin Trials 2024;19(1):53-61. doi: 10.2174/0115748871263396231121060901. PMID: 38141197
Common questions and misconceptions about creatine supplementation: what does the scientific evidence really show?
Antonio J, Candow DG, Forbes SC, Gualano B, Jagim AR, Kreider RB, Rawson ES, Smith-Ryan AE, VanDusseldorp TA, Willoughby DS, Ziegenfuss TN
J Int Soc Sports Nutr 2021 Feb 8;18(1):13. doi: 10.1186/s12970-021-00412-w. PMID: 33557850Free PMC Article
Onion juice (Allium cepa L.), a new topical treatment for alopecia areata.
Sharquie KE, Al-Obaidi HK
J Dermatol 2002 Jun;29(6):343-6. doi: 10.1111/j.1346-8138.2002.tb00277.x. PMID: 12126069

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: 34943905Free PMC Article
Biotinidase deficiency in a newborn.
El Moussaoui S, Bennaoui F, El Idrissi Slitine N, Houcar O, Maoulainine FMR
J Neonatal Perinatal Med 2020;13(1):139-141. doi: 10.3233/NPM-180130. PMID: 31594257
Genetic prediction of male pattern baldness.
Hagenaars SP, Hill WD, Harris SE, Ritchie SJ, Davies G, Liewald DC, Gale CR, Porteous DJ, Deary IJ, Marioni RE
PLoS Genet 2017 Feb;13(2):e1006594. Epub 2017 Feb 14 doi: 10.1371/journal.pgen.1006594. PMID: 28196072Free PMC Article
The endocrinology of baldness.
Batrinos ML
Hormones (Athens) 2014 Apr-Jun;13(2):197-212. doi: 10.1007/BF03401334. PMID: 24776620
Lassueur-Graham-Little-Piccardi syndrome.
Srivastava M, Mikkilineni R, Konstadt J
Dermatol Online J 2007 Jan 27;13(1):12. PMID: 17511945

Clinical prediction guides

Scalp Cooling in Preventing Persistent Chemotherapy-Induced Alopecia: A Randomized Controlled Trial.
Kang D, Cho J, Zhao D, Kim J, Kim N, Kim H, Kim S, Kim JY, Park YH, Im YH, Guallar E, Ahn JS
J Clin Oncol 2024 Sep 10;42(26):3115-3122. Epub 2024 Jun 6 doi: 10.1200/JCO.23.02374. PMID: 38843479
Causal role of immune cells in alopecia areata: A two-sample Mendelian randomization study.
Xu W, Shen Y, Sun J, Wei D, Xie B, Song X
Skin Res Technol 2024 Jan;30(1):e13579. doi: 10.1111/srt.13579. PMID: 38221794Free PMC Article
Risk of Depression Associated With Finasteride Treatment.
Pompili M, Magistri C, Maddalena S, Mellini C, Persechino S, Baldessarini RJ
J Clin Psychopharmacol 2021 May-Jun 01;41(3):304-309. doi: 10.1097/JCP.0000000000001379. PMID: 33814544
Dermatologic adverse events associated with afatinib: an oral ErbB family blocker.
Lacouture ME, Schadendorf D, Chu CY, Uttenreuther-Fischer M, Stammberger U, O'Brien D, Hauschild A
Expert Rev Anticancer Ther 2013 Jun;13(6):721-8. Epub 2013 Mar 18 doi: 10.1586/era.13.30. PMID: 23506519
Onion juice (Allium cepa L.), a new topical treatment for alopecia areata.
Sharquie KE, Al-Obaidi HK
J Dermatol 2002 Jun;29(6):343-6. doi: 10.1111/j.1346-8138.2002.tb00277.x. PMID: 12126069

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
The psychological consequences of androgenetic alopecia: A systematic review.
Aukerman EL, Jafferany M
J Cosmet Dermatol 2023 Jan;22(1):89-95. Epub 2022 Apr 25 doi: 10.1111/jocd.14983. PMID: 35403805Free PMC Article
Risk of Depression Associated With Finasteride Treatment.
Pompili M, Magistri C, Maddalena S, Mellini C, Persechino S, Baldessarini RJ
J Clin Psychopharmacol 2021 May-Jun 01;41(3):304-309. doi: 10.1097/JCP.0000000000001379. PMID: 33814544
Gastrointestinal manifestations in Satoyoshi syndrome: a systematic review.
Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2020 May 19;15(1):115. doi: 10.1186/s13023-020-01395-8. PMID: 32429959Free PMC Article
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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      Clinical tests in GTR
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      Related records in OMIM
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      OMIM records containing genes associated with phenotypes registered in MedGen
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