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Hypotrichosis 9(HYPT9)

MedGen UID:
481882
Concept ID:
C3280252
Disease or Syndrome
Synonym: HYPT9
 
Monarch Initiative: MONDO:0013649
OMIM®: 614237

Definition

A hypotrichosis that has material basis in an autosomal recessive mutation on chromosome 10q11.23-q22.3. [from MONDO]

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.
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.
Hypohidrosis
MedGen UID:
43796
Concept ID:
C0020620
Disease or Syndrome
Abnormally diminished capacity to sweat.
Abnormal nail morphology
MedGen UID:
163115
Concept ID:
C0853087
Anatomical Abnormality
Abnormal structure or appearance of the nail.
Sparse body hair
MedGen UID:
350775
Concept ID:
C1862863
Finding
Sparseness of the body hair.
Abnormal eyelash morphology
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.

Professional guidelines

PubMed

Gupta AK, Wang T, Rapaport JA
J Cosmet Dermatol 2023 Sep;22(9):2424-2433. Epub 2023 Jun 28 doi: 10.1111/jocd.15869. PMID: 37381168
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
Wang EHC, Sallee BN, Tejeda CI, Christiano AM
J Invest Dermatol 2018 Sep;138(9):1911-1916. Epub 2018 Jul 26 doi: 10.1016/j.jid.2018.05.027. PMID: 30057345Free PMC Article

Recent clinical studies

Etiology

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, Domínguez-Santas M, Vañó-Galván S, Grimalt R
Am J Clin Dermatol 2023 Jan;24(1):15-24. Epub 2022 Sep 28 doi: 10.1007/s40257-022-00730-y. PMID: 36169916
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
Lolli F, Pallotti F, Rossi A, Fortuna MC, Caro G, Lenzi A, Sansone A, Lombardo F
Endocrine 2017 Jul;57(1):9-17. Epub 2017 Mar 28 doi: 10.1007/s12020-017-1280-y. PMID: 28349362
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

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
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
Żychowska M, Żychowska M
Int J Dermatol 2021 Jul;60(7):818-828. Epub 2020 Dec 15 doi: 10.1111/ijd.15365. PMID: 33319363
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
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

Dahabreh D, Jung S, Renert-Yuval Y, Bar J, Del Duca E, Guttman-Yassky E
Am J Clin Dermatol 2023 Nov;24(6):895-912. Epub 2023 Aug 22 doi: 10.1007/s40257-023-00808-1. PMID: 37606849
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
Saceda-Corralo D, Domínguez-Santas M, Vañó-Galván S, Grimalt R
Am J Clin Dermatol 2023 Jan;24(1):15-24. Epub 2022 Sep 28 doi: 10.1007/s40257-022-00730-y. PMID: 36169916
King B, Ohyama M, Kwon O, Zlotogorski A, Ko J, Mesinkovska NA, Hordinsky M, Dutronc Y, Wu WS, McCollam J, Chiasserini C, Yu G, Stanley S, Holzwarth K, DeLozier AM, Sinclair R; BRAVE-AA Investigators
N Engl J Med 2022 May 5;386(18):1687-1699. Epub 2022 Mar 26 doi: 10.1056/NEJMoa2110343. PMID: 35334197

Prognosis

Lee H, Huang KP, Mostaghimi A, Choudhry NK
JAMA Dermatol 2023 Nov 1;159(11):1253-1257. doi: 10.1001/jamadermatol.2023.3109. PMID: 37728940Free PMC Article
Kwon O, Senna MM, Sinclair R, Ito T, Dutronc Y, Lin CY, Yu G, Chiasserini C, McCollam J, Wu WS, King B
Am J Clin Dermatol 2023 May;24(3):443-451. Epub 2023 Mar 1 doi: 10.1007/s40257-023-00764-w. PMID: 36855020Free 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
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
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

Huang J, Li T, Tan Z, Tang Y, Li J, Liu F, Shi W
Acta Derm Venereol 2023 Sep 20;103:adv13418. doi: 10.2340/actadv.v103.13418. PMID: 37731213Free 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
King B, Ohyama M, Kwon O, Zlotogorski A, Ko J, Mesinkovska NA, Hordinsky M, Dutronc Y, Wu WS, McCollam J, Chiasserini C, Yu G, Stanley S, Holzwarth K, DeLozier AM, Sinclair R; BRAVE-AA Investigators
N Engl J Med 2022 May 5;386(18):1687-1699. Epub 2022 Mar 26 doi: 10.1056/NEJMoa2110343. PMID: 35334197
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
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

Gupta AK, Wang T, Rapaport JA
J Cosmet Dermatol 2023 Sep;22(9):2424-2433. Epub 2023 Jun 28 doi: 10.1111/jocd.15869. PMID: 37381168
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
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
Lolli F, Pallotti F, Rossi A, Fortuna MC, Caro G, Lenzi A, Sansone A, Lombardo F
Endocrine 2017 Jul;57(1):9-17. Epub 2017 Mar 28 doi: 10.1007/s12020-017-1280-y. PMID: 28349362
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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