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Hypotrichosis 3(HYPT3)

MedGen UID:
462782
Concept ID:
C3151432
Disease or Syndrome
Synonyms: HYPOTRICHOSIS SIMPLEX OF THE SCALP 2; HYPT3
 
Gene (location): KRT74 (12q13.13)
 
Monarch Initiative: MONDO:0013514
OMIM®: 613981

Definition

Hypotrichosis simplex can affect all body hair (generalized; see 605389) or be limited to the scalp. Usually patients with the scalp-limited form of hypotrichosis present with normal hair at birth; they experience a progressive, gradual loss of scalp hair beginning at the middle of the first decade and leading to almost complete loss of scalp hair by the third decade. A few sparse, fine, short hairs remain in some individuals. Body hair, beard, eyebrows, axillary hair, teeth, and nails develop normally. Light and electron microscopy of hairs from patients with early hypotrichosis simplex revealed no structural changes, whereas hairs from patients with advanced hypotrichosis showed focal areas of defective cuticular structure. Men and women are equally affected (summary by Betz et al., 2000). For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389). [from OMIM]

Clinical features

From HPO
Abnormality of the dentition
MedGen UID:
78084
Concept ID:
C0262444
Finding
Any abnormality of the teeth.
Sparse scalp hair
MedGen UID:
346499
Concept ID:
C1857042
Finding
Decreased number of hairs per unit area of skin of the scalp.
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.
Abnormal eyelash morphology
MedGen UID:
382526
Concept ID:
C2675111
Finding
An abnormality of the eyelashes.

Professional guidelines

PubMed

Rudnicka L, Arenbergerova M, Grimalt R, Ioannides D, Katoulis AC, Lazaridou E, Olszewska M, Ovcharenko YS, Piraccini BM, Prohic A, Rakowska A, Reygagne P, Richard MA, Soares RO, Starace M, Vañó-Galvan S, Waskiel-Burnat A
J Eur Acad Dermatol Venereol 2024 Apr;38(4):687-694. Epub 2024 Jan 2 doi: 10.1111/jdv.19768. PMID: 38169088
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
Randolph M, Tosti A
J Am Acad Dermatol 2021 Mar;84(3):737-746. Epub 2020 Jul 2 doi: 10.1016/j.jaad.2020.06.1009. PMID: 32622136

Recent clinical studies

Etiology

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
Amarillo D, de Boni D, Cuello M
Actas Dermosifiliogr 2022 Mar;113(3):278-283. Epub 2021 Oct 12 doi: 10.1016/j.ad.2021.09.003. PMID: 35526920
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
Vañó-Galván S, Camacho F
Actas Dermosifiliogr 2017 Apr;108(3):221-228. Epub 2017 Jan 3 doi: 10.1016/j.ad.2016.11.010. PMID: 28061966
Rawnsley JD
Facial Plast Surg Clin North Am 2008 Aug;16(3):289-297. doi: 10.1016/j.fsc.2008.04.002. PMID: 18620980

Diagnosis

Gaurav A, Eang B, Mostaghimi A
JAMA Dermatol 2024 Mar 1;160(3):372. doi: 10.1001/jamadermatol.2023.4661. PMID: 38265795
Fechine COC, Valente NYS, Romiti R
An Bras Dermatol 2022 May-Jun;97(3):348-357. Epub 2022 Apr 2 doi: 10.1016/j.abd.2021.08.008. PMID: 35379508Free PMC Article
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
Tamashunas NL, Bergfeld WF
Cleve Clin J Med 2021 Mar 1;88(3):173-182. doi: 10.3949/ccjm.88a.20014. PMID: 33648970
Mubki T, Rudnicka L, Olszewska M, Shapiro J
J Am Acad Dermatol 2014 Sep;71(3):415.e1-415.e15. doi: 10.1016/j.jaad.2014.04.070. PMID: 25128118

Therapy

Rudnicka L, Arenbergerova M, Grimalt R, Ioannides D, Katoulis AC, Lazaridou E, Olszewska M, Ovcharenko YS, Piraccini BM, Prohic A, Rakowska A, Reygagne P, Richard MA, Soares RO, Starace M, Vañó-Galvan S, Waskiel-Burnat A
J Eur Acad Dermatol Venereol 2024 Apr;38(4):687-694. Epub 2024 Jan 2 doi: 10.1111/jdv.19768. PMID: 38169088
King BA, Craiglow BG
J Am Acad Dermatol 2023 Aug;89(2S):S29-S32. doi: 10.1016/j.jaad.2023.05.049. PMID: 37591562
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
Amarillo D, de Boni D, Cuello M
Actas Dermosifiliogr 2022 Mar;113(3):278-283. Epub 2021 Oct 12 doi: 10.1016/j.ad.2021.09.003. PMID: 35526920
Lourith N, Kanlayavattanakul M
J Cosmet Dermatol 2013 Sep;12(3):210-22. doi: 10.1111/jocd.12051. PMID: 23992163

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
Alessandrini A, Bruni F, Piraccini BM, Starace M
J Eur Acad Dermatol Venereol 2021 Mar;35(3):629-640. Epub 2021 Jan 8 doi: 10.1111/jdv.17079. PMID: 33290611
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
Meah N, Wall D, Trindade de Carvalho L, Sinclair R
Australas J Dermatol 2020 Aug;61(3):263-265. Epub 2020 Mar 5 doi: 10.1111/ajd.13270. PMID: 32141073
Mubki T, Rudnicka L, Olszewska M, Shapiro J
J Am Acad Dermatol 2014 Sep;71(3):415.e1-415.e15. doi: 10.1016/j.jaad.2014.04.070. PMID: 25128118

Clinical prediction guides

Rudnicka L, Arenbergerova M, Grimalt R, Ioannides D, Katoulis AC, Lazaridou E, Olszewska M, Ovcharenko YS, Piraccini BM, Prohic A, Rakowska A, Reygagne P, Richard MA, Soares RO, Starace M, Vañó-Galvan S, Waskiel-Burnat A
J Eur Acad Dermatol Venereol 2024 Apr;38(4):687-694. Epub 2024 Jan 2 doi: 10.1111/jdv.19768. PMID: 38169088
Dainichi T, Iwata M, Kaku Y
J Dermatol Sci 2023 Dec;112(3):120-127. Epub 2023 Oct 11 doi: 10.1016/j.jdermsci.2023.09.008. PMID: 37833164
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
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
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

Recent systematic reviews

Raval RS, Nohria A, Desai D, Mourtzanakis K, Buontempo M, Shapiro J, Lo Sicco K
J Am Acad Dermatol 2024 Sep;91(3):508-509. Epub 2024 May 23 doi: 10.1016/j.jaad.2024.05.037. PMID: 38796079
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
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
Fukumoto T, Fukumoto R, Magno E, Oka M, Nishigori C, Horita N
Dermatol Ther 2021 May;34(3):e14916. Epub 2021 Mar 4 doi: 10.1111/dth.14916. PMID: 33631058

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