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Hypotrichosis 5(HYPT5)

MedGen UID:
440568
Concept ID:
C2748535
Disease or Syndrome
Synonyms: HYPT5; MARIE UNNA HEREDITARY HYPOTRICHOSIS 2
 
Gene (location): EPS8L3 (1p13.3)
 
Monarch Initiative: MONDO:0013017
OMIM®: 612841

Definition

Hypotrichosis-5 (HYPT5), also known as Marie Unna hereditary hypotrichosis-2 (MUHH2), is a form of hereditary hypotrichosis characterized by twisting hair. Affected individuals have little or no scalp hair at birth, wiry and irregular scalp hair in childhood, and sparse or no forehead and parietal hair at puberty. Eyebrows and eyelashes are thin, and pubic and axillary hair fails to develop. Scarring alopecia is modest, and vertex hair is normal (summary by Zhang et al., 2012). For a general phenotypic description of Marie Unna hereditary hypotrichosis, see MUHH1 (146550). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see 605389. [from OMIM]

Clinical features

From HPO
Hearing abnormality
MedGen UID:
871365
Concept ID:
C4025860
Finding
An abnormality of the sensory perception of sound.
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Thin eyebrow
MedGen UID:
924116
Concept ID:
C4281771
Finding
Decreased diameter of eyebrow hairs.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Abnormal sweat gland morphology
MedGen UID:
892310
Concept ID:
C0262643
Anatomical Abnormality
Any structural abnormality of the sweat gland.
Abnormal nail morphology
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormal structure or appearance of the nail.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Absent pubic hair
MedGen UID:
349155
Concept ID:
C1859391
Finding
Absence of pubic hair.
Absent axillary hair
MedGen UID:
347869
Concept ID:
C1859392
Finding
Absence of axillary hair.

Term Hierarchy

Professional guidelines

PubMed

Rosenthal A, Conde G, Greco JF, Gharavi NM
J Cosmet Laser Ther 2024 Jan-Jun;26(1-4):1-16. Epub 2024 Jun 9 doi: 10.1080/14764172.2024.2362126. PMID: 38852607
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: 34741573Free PMC Article
Reguero-Del Cura L, Durán-Vian C, de Quintana-Sancho A
Actas Dermosifiliogr (Engl Ed) 2020 Jun;111(5):419-420. Epub 2020 May 13 doi: 10.1016/j.ad.2018.10.030. PMID: 32416936

Recent clinical studies

Etiology

Cuevas-Diaz Duran R, Martinez-Ledesma E, Garcia-Garcia M, Bajo Gauzin D, Sarro-Ramírez A, Gonzalez-Carrillo C, Rodríguez-Sardin D, Fuentes A, Cardenas-Lopez A
Int J Mol Sci 2024 Feb 22;25(5) doi: 10.3390/ijms25052542. PMID: 38473791Free PMC Article
Griggs J, Burroway B, Tosti A
J Am Acad Dermatol 2021 Nov;85(5):1267-1273. Epub 2019 Aug 12 doi: 10.1016/j.jaad.2019.08.018. PMID: 31415838
Silva GB, Ciccolini K, Donati A, Hurk CVD
An Bras Dermatol 2020 Sep-Oct;95(5):631-637. Epub 2020 Jun 16 doi: 10.1016/j.abd.2020.03.005. PMID: 32622629Free PMC Article
Zhou Y, Chen C, Qu Q, Zhang C, Wang J, Fan Z, Miao Y, Hu Z
Dermatol Ther 2020 Jul;33(4):e13741. Epub 2020 Jul 2 doi: 10.1111/dth.13741. PMID: 32478968
Thompson JM, Mirza MA, Park MK, Qureshi AA, Cho E
Am J Clin Dermatol 2017 Oct;18(5):663-679. doi: 10.1007/s40257-017-0285-x. PMID: 28508256Free PMC Article

Diagnosis

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
Griggs J, Burroway B, Tosti A
J Am Acad Dermatol 2021 Nov;85(5):1267-1273. Epub 2019 Aug 12 doi: 10.1016/j.jaad.2019.08.018. PMID: 31415838
Zhou Y, Chen C, Qu Q, Zhang C, Wang J, Fan Z, Miao Y, Hu Z
Dermatol Ther 2020 Jul;33(4):e13741. Epub 2020 Jul 2 doi: 10.1111/dth.13741. PMID: 32478968
Kaliyadan F, Nambiar A, Vijayaraghavan S
Indian J Dermatol Venereol Leprol 2013 Sep-Oct;79(5):613-25. doi: 10.4103/0378-6323.116730. PMID: 23974579
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730

Therapy

Griggs J, Burroway B, Tosti A
J Am Acad Dermatol 2021 Nov;85(5):1267-1273. Epub 2019 Aug 12 doi: 10.1016/j.jaad.2019.08.018. PMID: 31415838
Silva GB, Ciccolini K, Donati A, Hurk CVD
An Bras Dermatol 2020 Sep-Oct;95(5):631-637. Epub 2020 Jun 16 doi: 10.1016/j.abd.2020.03.005. PMID: 32622629Free PMC Article
Goren A, Naccarato T
Dermatol Ther 2018 Sep;31(5):e12686. Epub 2018 Aug 28 doi: 10.1111/dth.12686. PMID: 30155952
Piraccini BM, Alessandrini A
G Ital Dermatol Venereol 2014 Feb;149(1):15-24. PMID: 24566563
Kaliyadan F, Nambiar A, Vijayaraghavan S
Indian J Dermatol Venereol Leprol 2013 Sep-Oct;79(5):613-25. doi: 10.4103/0378-6323.116730. PMID: 23974579

Prognosis

Chim I, Ghiya R, Sinclair RD, Eisman S
Expert Opin Investig Drugs 2024 May;33(5):441-449. Epub 2024 May 20 doi: 10.1080/13543784.2024.2348062. PMID: 38682280
Griggs J, Burroway B, Tosti A
J Am Acad Dermatol 2021 Nov;85(5):1267-1273. Epub 2019 Aug 12 doi: 10.1016/j.jaad.2019.08.018. PMID: 31415838
Sharma A, Goren A, Dhurat R, Agrawal S, Sinclair R, Trüeb RM, Vañó-Galván S, Chen G, Tan Y, Kovacevic M, Situm M, McCoy J
Dermatol Ther 2019 May;32(3):e12915. Epub 2019 Apr 23 doi: 10.1111/dth.12915. PMID: 30974011
Piraccini BM, Alessandrini A
G Ital Dermatol Venereol 2014 Feb;149(1):15-24. PMID: 24566563
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730

Clinical prediction guides

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: 34634163Free PMC Article
King B, Guttman-Yassky E, Peeva E, Banerjee A, Sinclair R, Pavel AB, Zhu L, Cox LA, Craiglow B, Chen L, Banfield C, Page K, Zhang W, Vincent MS
J Am Acad Dermatol 2021 Aug;85(2):379-387. Epub 2021 Mar 20 doi: 10.1016/j.jaad.2021.03.050. PMID: 33757798
Kranz D, Nadarevic L, Erdfelder E
Exp Psychol 2019 Sep;66(5):331-345. Epub 2019 Oct 11 doi: 10.1027/1618-3169/a000457. PMID: 31603047Free PMC Article
Harrison S, Sinclair R
Clin Exp Dermatol 2002 Jul;27(5):389-5. doi: 10.1046/j.1365-2230.2002.01080.x. PMID: 12190639
Bergfeld WF
Adv Dermatol 1989;4:301-20; discussion 321. PMID: 2701796

Recent systematic reviews

Rosenthal A, Conde G, Greco JF, Gharavi NM
J Cosmet Laser Ther 2024 Jan-Jun;26(1-4):1-16. Epub 2024 Jun 9 doi: 10.1080/14764172.2024.2362126. PMID: 38852607
Seo HM, Oh SU, Kim S, Park JH, Kim JS
J Eur Acad Dermatol Venereol 2024 Aug;38(8):1514-1521. Epub 2024 Feb 15 doi: 10.1111/jdv.19802. PMID: 38357767
Zhou Y, Chen C, Qu Q, Zhang C, Wang J, Fan Z, Miao Y, Hu Z
Dermatol Ther 2020 Jul;33(4):e13741. Epub 2020 Jul 2 doi: 10.1111/dth.13741. PMID: 32478968
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
Adil A, Godwin M
J Am Acad Dermatol 2017 Jul;77(1):136-141.e5. Epub 2017 Apr 7 doi: 10.1016/j.jaad.2017.02.054. PMID: 28396101

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