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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.
Abnormal sweat gland morphology
MedGen UID:
892310
Concept ID:
C0262643
Anatomical Abnormality
Any structural abnormality of the sweat gland.
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.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Abnormal skin morphology
MedGen UID:
869110
Concept ID:
C4023528
Anatomical Abnormality
Any morphological abnormality of the skin.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Professional guidelines

PubMed

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
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
Price VH
N Engl J Med 1999 Sep 23;341(13):964-73. doi: 10.1056/NEJM199909233411307. PMID: 10498493

Recent clinical studies

Etiology

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
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
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
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
Batrinos ML
Hormones (Athens) 2014 Apr-Jun;13(2):197-212. doi: 10.1007/BF03401334. PMID: 24776620

Diagnosis

Ly S, Manjaly P, Kamal K, Shields A, Wafae B, Afzal N, Drake L, Sanchez K, Gregoire S, Zhou G, Mita C, Mostaghimi A
Am J Clin Dermatol 2023 Nov;24(6):875-893. Epub 2023 Jul 18 doi: 10.1007/s40257-023-00805-4. PMID: 37464249
Liu C, Abbas F, Seehra J
J Orthod 2019 Dec;46(4):335-342. Epub 2019 Sep 18 doi: 10.1177/1465312519876948. PMID: 31533517
Jeskowiak A, Luger TA, Böhm M
J Dtsch Dermatol Ges 2015 Sep;13(9):934-6. Epub 2015 Jul 14 doi: 10.1111/ddg.12759. PMID: 26177262
Gubelin Harcha W, Barboza Martínez J, Tsai TF, Katsuoka K, Kawashima M, Tsuboi R, Barnes A, Ferron-Brady G, Chetty D
J Am Acad Dermatol 2014 Mar;70(3):489-498.e3. Epub 2014 Jan 9 doi: 10.1016/j.jaad.2013.10.049. PMID: 24411083
Mulinari-Brenner F, Bergfeld WF
Dermatol Nurs 2001 Aug;13(4):269-72, 277-8. PMID: 11917783

Therapy

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
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
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
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
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

Prognosis

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
Lee HH, Gwillim E, Patel KR, Hua T, Rastogi S, Ibler E, Silverberg JI
J Am Acad Dermatol 2020 Mar;82(3):675-682. Epub 2019 Aug 19 doi: 10.1016/j.jaad.2019.08.032. PMID: 31437543
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
Batrinos ML
Hormones (Athens) 2014 Apr-Jun;13(2):197-212. doi: 10.1007/BF03401334. PMID: 24776620
Gubelin Harcha W, Barboza Martínez J, Tsai TF, Katsuoka K, Kawashima M, Tsuboi R, Barnes A, Ferron-Brady G, Chetty D
J Am Acad Dermatol 2014 Mar;70(3):489-498.e3. Epub 2014 Jan 9 doi: 10.1016/j.jaad.2013.10.049. PMID: 24411083

Clinical prediction guides

Lim HW, Kim HJ, Jeon CY, Lee Y, Kim M, Kim J, Kim SR, Lee S, Lim DC, Park HD, Park BC, Shin DW
Int J Mol Sci 2024 Jul 8;25(13) doi: 10.3390/ijms25137485. PMID: 39000592Free PMC Article
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
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
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
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

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
Ly S, Manjaly P, Kamal K, Shields A, Wafae B, Afzal N, Drake L, Sanchez K, Gregoire S, Zhou G, Mita C, Mostaghimi A
Am J Clin Dermatol 2023 Nov;24(6):875-893. Epub 2023 Jul 18 doi: 10.1007/s40257-023-00805-4. PMID: 37464249
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
Lee HH, Gwillim E, Patel KR, Hua T, Rastogi S, Ibler E, Silverberg JI
J Am Acad Dermatol 2020 Mar;82(3):675-682. Epub 2019 Aug 19 doi: 10.1016/j.jaad.2019.08.032. PMID: 31437543
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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