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Hypotrichosis 11(HYPT11)

MedGen UID:
767323
Concept ID:
C3554409
Disease or Syndrome
Synonym: HYPT11
 
Gene (location): SNRPE (1q32.1)
 
Monarch Initiative: MONDO:0014027
OMIM®: 615059

Definition

Hypotrichosis-11 (HYPT11) is a form of isolated alopecia characterized by diffuse and progressive loss of hair starting in childhood. Affected individuals typically present with sparse to absent scalp hair, and may have brittle or absent eyebrows and eyelashes as well as sparse body hair, without hair shaft anomalies (summary by Pan et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389). [from OMIM]

Clinical features

From HPO
Aplasia/Hypoplasia of the eyebrow
MedGen UID:
892938
Concept ID:
C4021956
Finding
Absence or underdevelopment of the eyebrow.
Alopecia universalis
MedGen UID:
120481
Concept ID:
C0263505
Disease or Syndrome
Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.\n\nIn most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.\n\nAlopecia areata affects people of all ages, although it most commonly appears in adolescence or early adulthood. Hair loss occurs over a period of weeks. The hair usually grows back after several months, although it may fall out again. In some cases, unpredictable cycles of hair loss followed by regrowth can last for years. In addition to hair loss, some affected individuals have fingernail and toenail abnormalities, such as pits on the surface of the nails.\n\nThe hair loss associated with alopecia areata is not painful or disabling. However, it causes changes in a person's appearance that can profoundly affect quality of life and self-esteem. In some people, the condition can lead to depression, anxiety, and other emotional or psychological issues.
Absent axillary hair
MedGen UID:
347869
Concept ID:
C1859392
Finding
Absence of axillary hair.
Sparse or absent eyelashes
MedGen UID:
764345
Concept ID:
C3551431
Finding
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Professional guidelines

PubMed

Zhou C, Li X, Wang C, Zhang J
Clin Rev Allergy Immunol 2021 Dec;61(3):403-423. Epub 2021 Aug 17 doi: 10.1007/s12016-021-08883-0. PMID: 34403083
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
Kanti V, Messenger A, Dobos G, Reygagne P, Finner A, Blumeyer A, Trakatelli M, Tosti A, Del Marmol V, Piraccini BM, Nast A, Blume-Peytavi U
J Eur Acad Dermatol Venereol 2018 Jan;32(1):11-22. Epub 2017 Nov 27 doi: 10.1111/jdv.14624. PMID: 29178529

Recent clinical studies

Etiology

Liu M, Gao Y, Yuan Y, Yang K, Shen C, Wang J, Tian J
JAMA Netw Open 2023 Jun 1;6(6):e2320351. doi: 10.1001/jamanetworkopen.2023.20351. PMID: 37368402Free PMC Article
Drake L, Reyes-Hadsall S, Martinez J, Heinrich C, Huang K, Mostaghimi A
JAMA Dermatol 2023 Jan 1;159(1):79-86. doi: 10.1001/jamadermatol.2022.4867. PMID: 36449274
Zhou C, Li X, Wang C, Zhang J
Clin Rev Allergy Immunol 2021 Dec;61(3):403-423. Epub 2021 Aug 17 doi: 10.1007/s12016-021-08883-0. PMID: 34403083
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
Brănişteanu DE, Voicu CM, Brănişteanu DC
Rev Med Chir Soc Med Nat Iasi 2014 Jan-Mar;118(1):11-8. PMID: 24741769

Diagnosis

Gupta AK, Talukder M, Bamimore MA
Dermatol Ther 2022 Apr;35(4):e15323. Epub 2022 Jan 27 doi: 10.1111/dth.15323. PMID: 35044013
Zhou C, Li X, Wang C, Zhang J
Clin Rev Allergy Immunol 2021 Dec;61(3):403-423. Epub 2021 Aug 17 doi: 10.1007/s12016-021-08883-0. PMID: 34403083
Lopez-Leon S, Wegman-Ostrosky T, Perelman C, Sepulveda R, Rebolledo PA, Cuapio A, Villapol S
Sci Rep 2021 Aug 9;11(1):16144. doi: 10.1038/s41598-021-95565-8. PMID: 34373540Free PMC Article
Imhof RL, Davis DMR, Tollefson MM
Pediatr Rev 2020 Nov;41(11):570-584. doi: 10.1542/pir.2019-0009. PMID: 33139410
Tartaglia M, Gelb BD, Zenker M
Best Pract Res Clin Endocrinol Metab 2011 Feb;25(1):161-79. doi: 10.1016/j.beem.2010.09.002. PMID: 21396583Free PMC Article

Therapy

Drake L, Reyes-Hadsall S, Martinez J, Heinrich C, Huang K, Mostaghimi A
JAMA Dermatol 2023 Jan 1;159(1):79-86. doi: 10.1001/jamadermatol.2022.4867. PMID: 36449274
Gupta AK, Talukder M, Bamimore MA
Dermatol Ther 2022 Apr;35(4):e15323. Epub 2022 Jan 27 doi: 10.1111/dth.15323. PMID: 35044013
Saini K, Mysore V
J Cosmet Dermatol 2021 Nov;20(11):3407-3414. Epub 2021 Sep 22 doi: 10.1111/jocd.14421. PMID: 34553483
Lopez-Leon S, Wegman-Ostrosky T, Perelman C, Sepulveda R, Rebolledo PA, Cuapio A, Villapol S
Sci Rep 2021 Aug 9;11(1):16144. doi: 10.1038/s41598-021-95565-8. PMID: 34373540Free PMC Article
Pagliarello C, Cortelazzi C, Feliciani C, Di Nuzzo S
Lancet Infect Dis 2016 Nov;16(11):1304. doi: 10.1016/S1473-3099(16)30129-3. PMID: 27788991

Prognosis

Drake L, Reyes-Hadsall S, Martinez J, Heinrich C, Huang K, Mostaghimi A
JAMA Dermatol 2023 Jan 1;159(1):79-86. doi: 10.1001/jamadermatol.2022.4867. PMID: 36449274
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
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
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855
Halawi A, Abiad F, Abbas O
Obes Surg 2013 Mar;23(3):408-13. doi: 10.1007/s11695-012-0859-x. PMID: 23297168

Clinical prediction guides

Liu M, Gao Y, Yuan Y, Yang K, Shen C, Wang J, Tian J
JAMA Netw Open 2023 Jun 1;6(6):e2320351. doi: 10.1001/jamanetworkopen.2023.20351. PMID: 37368402Free PMC Article
Kalner S, Vergilis I
J Drugs Dermatol 2023 Mar 1;22(3):300-301. doi: 10.36849/JDD.7161. PMID: 36877879
Babadjouni A, Reddy M, Zhang R, Raffi J, Phong C, Mesinkovska N
J Drugs Dermatol 2023 Mar 1;22(3):260-264. doi: 10.36849/JDD.6921. PMID: 36877877
Gupta AK, Talukder M, Bamimore MA
Dermatol Ther 2022 Apr;35(4):e15323. Epub 2022 Jan 27 doi: 10.1111/dth.15323. PMID: 35044013
Goodman NF, Cobin RH, Futterweit W, Glueck JS, Legro RS, Carmina E; American Association of Clinical Endocrinologists (AACE); American College of Endocrinology (ACE); Androgen Excess and PCOS Society (AES)
Endocr Pract 2015 Nov;21(11):1291-300. doi: 10.4158/EP15748.DSC. PMID: 26509855

Recent systematic reviews

Liu M, Gao Y, Yuan Y, Yang K, Shen C, Wang J, Tian J
JAMA Netw Open 2023 Jun 1;6(6):e2320351. doi: 10.1001/jamanetworkopen.2023.20351. PMID: 37368402Free PMC Article
Drake L, Reyes-Hadsall S, Martinez J, Heinrich C, Huang K, Mostaghimi A
JAMA Dermatol 2023 Jan 1;159(1):79-86. doi: 10.1001/jamadermatol.2022.4867. PMID: 36449274
Lopez-Leon S, Wegman-Ostrosky T, Perelman C, Sepulveda R, Rebolledo PA, Cuapio A, Villapol S
Sci Rep 2021 Aug 9;11(1):16144. doi: 10.1038/s41598-021-95565-8. PMID: 34373540Free 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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