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Hypotrichosis 10(HYPT10)

MedGen UID:
481883
Concept ID:
C3280253
Disease or Syndrome
Synonym: HYPT10
 
Monarch Initiative: MONDO:0013650
OMIM®: 614238

Definition

A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 7p22.3-p21.3. [from MONDO]

Clinical features

From HPO
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
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.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.

Professional guidelines

PubMed

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
Sterkens A, Lambert J, Bervoets A
Clin Exp Med 2021 May;21(2):215-230. Epub 2021 Jan 1 doi: 10.1007/s10238-020-00673-w. PMID: 33386567
Gupta AK, Cole J, Deutsch DP, Everts PA, Niedbalski RP, Panchaprateep R, Rinaldi F, Rose PT, Sinclair R, Vogel JE, Welter RJ, Zufelt MD, Puig CJ
Dermatol Surg 2019 Oct;45(10):1262-1273. doi: 10.1097/DSS.0000000000001894. PMID: 30882509

Recent clinical studies

Etiology

Hordinsky M, Hebert AA, Gooderham M, Kwon O, Murashkin N, Fang H, Harada K, Law E, Wajsbrot D, Takiya L, Zwillich SH, Wolk R, Tran H
Pediatr Dermatol 2023 Nov-Dec;40(6):1003-1009. Epub 2023 Jul 17 doi: 10.1111/pde.15378. PMID: 37455588
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
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
Kovitwanichkanont T, Chong AH
Aust J Gen Pract 2019 Oct;48(10):706-711. doi: 10.31128/AJGP-05-19-4930. PMID: 31569324
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

Diagnosis

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, Venkataraman M, Talukder M, Bamimore MA
JAMA Dermatol 2022 Mar 1;158(3):266-274. doi: 10.1001/jamadermatol.2021.5743. PMID: 35107565Free PMC Article
Sterkens A, Lambert J, Bervoets A
Clin Exp Med 2021 May;21(2):215-230. Epub 2021 Jan 1 doi: 10.1007/s10238-020-00673-w. PMID: 33386567
Kovitwanichkanont T, Chong AH
Aust J Gen Pract 2019 Oct;48(10):706-711. doi: 10.31128/AJGP-05-19-4930. PMID: 31569324
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

Therapy

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
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
Sterkens A, Lambert J, Bervoets A
Clin Exp Med 2021 May;21(2):215-230. Epub 2021 Jan 1 doi: 10.1007/s10238-020-00673-w. PMID: 33386567
Kovitwanichkanont T, Chong AH
Aust J Gen Pract 2019 Oct;48(10):706-711. doi: 10.31128/AJGP-05-19-4930. PMID: 31569324
Rushton DH
Clin Exp Dermatol 2002 Jul;27(5):396-404. doi: 10.1046/j.1365-2230.2002.01076.x. PMID: 12190640

Prognosis

Tosti A
J Drugs Dermatol 2023 Oct 1;22(10):967-975. doi: 10.36849/JDD.SF396143. PMID: 37801523
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
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
Sterkens A, Lambert J, Bervoets A
Clin Exp Med 2021 May;21(2):215-230. Epub 2021 Jan 1 doi: 10.1007/s10238-020-00673-w. PMID: 33386567
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

Clinical prediction guides

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
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
Jaripur M, Ghasemi-Tehrani H, Askari G, Gholizadeh-Moghaddam M, Clark CCT, Rouhani MH
Reprod Biol Endocrinol 2022 Aug 2;20(1):110. doi: 10.1186/s12958-022-00982-7. PMID: 35918728Free PMC Article
Tang Z, Hu Y, Wang J, Fan Z, Qu Q, Miao Y
J Cosmet Dermatol 2022 Oct;21(10):4184-4193. Epub 2022 Mar 14 doi: 10.1111/jocd.14900. PMID: 35253335
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
Tang Z, Hu Y, Wang J, Fan Z, Qu Q, Miao Y
J Cosmet Dermatol 2022 Oct;21(10):4184-4193. Epub 2022 Mar 14 doi: 10.1111/jocd.14900. PMID: 35253335
Gupta AK, Bamimore MA, Foley KA
J Dermatolog Treat 2022 Feb;33(1):62-72. Epub 2020 Apr 13 doi: 10.1080/09546634.2020.1749547. PMID: 32250713
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
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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