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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.
Abnormality of the nail
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormality 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

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
York K, Meah N, Bhoyrul B, Sinclair R
Expert Opin Pharmacother 2020 Apr;21(5):603-612. Epub 2020 Feb 17 doi: 10.1080/14656566.2020.1721463. PMID: 32066284
Goren A, Naccarato T
Dermatol Ther 2018 Sep;31(5):e12686. Epub 2018 Aug 28 doi: 10.1111/dth.12686. PMID: 30155952

Recent clinical studies

Etiology

Saceda-Corralo D, Moustafa F, Moreno-Arrones Ó, Jaén-Olasolo P, Vañó-Galván S, Camacho F
J Drugs Dermatol 2022 Jul 1;21(7):742-747. doi: 10.36849/JDD.6610. PMID: 35816059
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
Lee SW, Juhasz M, Mobasher P, Ekelem C, Mesinkovska NA
J Drugs Dermatol 2018 Apr 1;17(4):457-463. PMID: 29601622Free PMC Article
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

Diagnosis

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
Manabe M, Tsuboi R, Itami S, Osada SI, Amoh Y, Ito T, Inui S, Ueki R, Ohyama M, Kurata S, Kono T, Saito N, Sato A, Shimomura Y, Nakamura M, Narusawa H, Yamazaki M; Drafting Committee for the Guidelines for the Diagnosis and Treatment of Male- and Female-Pattern Hair Loss
J Dermatol 2018 Sep;45(9):1031-1043. Epub 2018 Jun 4 doi: 10.1111/1346-8138.14470. PMID: 29863806
Lee SW, Juhasz M, Mobasher P, Ekelem C, Mesinkovska NA
J Drugs Dermatol 2018 Apr 1;17(4):457-463. PMID: 29601622Free PMC Article
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

Therapy

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
Gupta AK, Talukder M, Venkataraman M, Bamimore MA
J Dermatolog Treat 2022 Jun;33(4):1896-1906. Epub 2021 Jul 20 doi: 10.1080/09546634.2021.1945527. PMID: 34159872
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
York K, Meah N, Bhoyrul B, Sinclair R
Expert Opin Pharmacother 2020 Apr;21(5):603-612. Epub 2020 Feb 17 doi: 10.1080/14656566.2020.1721463. PMID: 32066284
Traish AM
Fertil Steril 2020 Jan;113(1):21-50. doi: 10.1016/j.fertnstert.2019.11.030. PMID: 32033719

Prognosis

Kępińska K, Jałowska M, Bowszyc-Dmochowska M
Ann Agric Environ Med 2022 Jun 24;29(2):169-184. Epub 2021 Aug 31 doi: 10.26444/aaem/141324. PMID: 35767748
Guttman-Yassky E, Renert-Yuval Y, Bares J, Chima M, Hawkes JE, Gilleaudeau P, Sullivan-Whalen M, Singer GK, Garcet S, Pavel AB, Lebwohl MG, Krueger JG
Allergy 2022 Mar;77(3):897-906. Epub 2021 Sep 6 doi: 10.1111/all.15071. PMID: 34460948Free 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
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
Piraccini BM, Alessandrini A
G Ital Dermatol Venereol 2014 Feb;149(1):15-24. PMID: 24566563

Clinical prediction guides

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
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
Guttman-Yassky E, Renert-Yuval Y, Bares J, Chima M, Hawkes JE, Gilleaudeau P, Sullivan-Whalen M, Singer GK, Garcet S, Pavel AB, Lebwohl MG, Krueger JG
Allergy 2022 Mar;77(3):897-906. Epub 2021 Sep 6 doi: 10.1111/all.15071. PMID: 34460948Free PMC Article
Gupta AK, Foley KA
Skin Therapy Lett 2014 Nov-Dec;19(6):5-7. PMID: 25807073
Olsen EA, Dunlap FE, Funicella T, Koperski JA, Swinehart JM, Tschen EH, Trancik RJ
J Am Acad Dermatol 2002 Sep;47(3):377-85. doi: 10.1067/mjd.2002.124088. PMID: 12196747

Recent systematic reviews

Cruciani M, Masiello F, Pati I, Marano G, Pupella S, De Angelis V
Blood Transfus 2023 Jan;21(1):24-36. Epub 2021 Nov 15 doi: 10.2450/2021.0216-21. PMID: 34967722Free PMC Article
Lee SW, Juhasz M, Mobasher P, Ekelem C, Mesinkovska NA
J Drugs Dermatol 2018 Apr 1;17(4):457-463. PMID: 29601622Free PMC Article
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
Sibaud V, Lebœuf NR, Roche H, Belum VR, Gladieff L, Deslandres M, Montastruc M, Eche A, Vigarios E, Dalenc F, Lacouture ME
Eur J Dermatol 2016 Oct 1;26(5):427-443. doi: 10.1684/ejd.2016.2833. PMID: 27550571Free 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

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