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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
Goren A, Shapiro J, Roberts J, McCoy J, Desai N, Zarrab Z, Pietrzak A, Lotti T
Dermatol Ther 2015 Jan-Feb;28(1):13-6. Epub 2014 Aug 12 doi: 10.1111/dth.12164. PMID: 25112173

Recent clinical studies

Etiology

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
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
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

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
Mounessa J, Caravaglio JV, Domozych R, Chapman S, Dellavalle RP, Dunnick CA, Norris D
J Am Acad Dermatol 2023 Jun;88(6):1326-1337.e2. doi: 10.1016/j.jaad.2017.01.060. PMID: 37268392
Nguyen DD, Marchese M, Cone EB, Paciotti M, Basaria S, Bhojani N, Trinh QD
JAMA Dermatol 2021 Jan 1;157(1):35-42. doi: 10.1001/jamadermatol.2020.3385. PMID: 33175100Free 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
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

Therapy

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
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
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
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

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
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
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
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

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
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
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
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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