U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypotrichosis 8(HYPT8)

MedGen UID:
481100
Concept ID:
C3279470
Disease or Syndrome
Synonyms: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 3; HYPT8; Woolly Hair, Autosomal Recessive; Woolly hair, autosomal recessive 1
 
Gene (location): LPAR6 (13q14.2)
 
Monarch Initiative: MONDO:0010206
OMIM®: 278150

Definition

Hypotrichosis simplex refers to a group of hereditary isolated alopecias characterized by diffuse and progressive hair loss, usually beginning in early childhood (Pasternack et al., 2008). Localized autosomal recessive hypotrichosis (LAH) is characterized by fragile hairs that break easily, leaving short, sparse scalp hairs. The disorder affects the trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard, pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular papules, erythema, and pruritus in affected areas (summary by Schaffer et al., 2006). Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends (summary by Petukhova et al., 2009). Several families have been reported in which some affected individuals exhibit features of hypotrichosis and others have woolly scalp hair (Khan et al., 2011). Woolly hair is also a feature of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (Petukhova et al., 2009), or the palmoplantar keratoderma and cardiomyopathy syndrome (601214) (Carvajal-Huerta, 1998). Genetic Heterogeneity of Hypotrichosis and Woolly Hair For a discussion of genetic heterogeneity of nonsyndromic hypotrichosis, see HYPT1 (605389). For a discussion of genetic heterogeneity of localized hypotrichosis, see LAH1 (HYPT6; 607903). Another form of autosomal recessive woolly hair with or without hypotrichosis (ARWH2; 604379) is caused by mutation in the LIPH gene (607365) and is allelic to autosomal recessive localized hypotrichosis (LAH2). ARWH3 (616760) is caused by mutation in the KRT25 gene (616646) on chromosome 17q21. An autosomal dominant form of woolly hair with hypotrichosis (HYPT13; 615896) is caused by mutation in the KRT71 gene (608245) on chromosome 12q13. Another autosomal dominant form of woolly hair (ADWH; 194300) with normal hair density is caused by mutation in the KRT74 gene (608248) on chromosome 12q13, and is allelic to an autosomal dominant form of hypotrichosis simplex of the scalp (HYPT3; 613981) as well as an ectodermal dysplasia of the hair/nail type (ECTD7; 614929). [from OMIM]

Clinical features

From HPO
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.
Nail pits
MedGen UID:
57463
Concept ID:
C0150993
Finding
Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.
Comedo
MedGen UID:
67447
Concept ID:
C0221228
Disease or Syndrome
A clogged cutaneous sebaceous follicle, which is a cutaneous gland that secretes sebum (usually into a hair follicle).
Coarse hair
MedGen UID:
124454
Concept ID:
C0277959
Finding
Hair shafts are rough in texture.
Dry hair
MedGen UID:
75809
Concept ID:
C0277960
Finding
Hair that lacks the lustre (shine or gleam) of normal hair.
Wooly hair
MedGen UID:
87469
Concept ID:
C0343073
Finding
The term woolly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter.
Ridged nail
MedGen UID:
140853
Concept ID:
C0423820
Finding
Longitudinal, linear prominences in the nail plate.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Fair hair
MedGen UID:
336542
Concept ID:
C1849221
Finding
A lesser degree of hair pigmentation than would otherwise be expected.
Sparse axillary hair
MedGen UID:
348975
Concept ID:
C1858574
Finding
Reduced number or density of axillary hair.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Professional guidelines

PubMed

Ramírez-Marín HA, Tosti A
Expert Opin Emerg Drugs 2022 Dec;27(4):379-387. Epub 2022 Nov 21 doi: 10.1080/14728214.2022.2149735. PMID: 36408593
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
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

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
Czech T, Sugihara S, Nishimura Y
J Cosmet Dermatol 2022 Sep;21(9):3655-3662. Epub 2022 Jul 19 doi: 10.1111/jocd.15218. PMID: 35801366Free PMC Article
King B, Mesinkovska N, Mirmirani P, Bruce S, Kempers S, Guttman-Yassky E, Roberts JL, McMichael A, Colavincenzo M, Hamilton C, Braman V, Cassella JV
J Am Acad Dermatol 2022 Aug;87(2):306-313. Epub 2022 Mar 29 doi: 10.1016/j.jaad.2022.03.045. PMID: 35364216
Kibbie J, Kines K, Norris D, Dunnick CA
Pediatr Dermatol 2022 Jan;39(1):31-34. Epub 2021 Nov 14 doi: 10.1111/pde.14855. PMID: 34779041
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

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
Ramírez-Marín HA, Tosti A
Expert Opin Emerg Drugs 2022 Dec;27(4):379-387. Epub 2022 Nov 21 doi: 10.1080/14728214.2022.2149735. PMID: 36408593
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
Griggs J, Trüeb RM, Gavazzoni Dias MFR, Hordinsky M, Tosti A
J Am Acad Dermatol 2021 Dec;85(6):1557-1564. Epub 2020 Jan 8 doi: 10.1016/j.jaad.2019.12.056. PMID: 31926219

Therapy

Devjani S, Ezemma O, Kelley KJ, Stratton E, Senna M
Drugs 2023 Jun;83(8):701-715. Epub 2023 May 11 doi: 10.1007/s40265-023-01880-x. PMID: 37166619Free PMC Article
Ramírez-Marín HA, Tosti A
Expert Opin Emerg Drugs 2022 Dec;27(4):379-387. Epub 2022 Nov 21 doi: 10.1080/14728214.2022.2149735. PMID: 36408593
Kost Y, Muskat A, Mhaimeed N, Nazarian RS, Kobets K
J Cosmet Dermatol 2022 Aug;21(8):3226-3231. Epub 2022 Jun 2 doi: 10.1111/jocd.15008. PMID: 35441799
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
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

Prognosis

Ober-Reynolds B, Wang C, Ko JM, Rios EJ, Aasi SZ, Davis MM, Oro AE, Greenleaf WJ
Nat Genet 2023 Aug;55(8):1288-1300. Epub 2023 Jul 27 doi: 10.1038/s41588-023-01445-4. PMID: 37500727
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
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
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
Trüeb RM
Skin Therapy Lett 2010 Jul-Aug;15(7):5-7. PMID: 20700552

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
Czech T, Sugihara S, Nishimura Y
J Cosmet Dermatol 2022 Sep;21(9):3655-3662. Epub 2022 Jul 19 doi: 10.1111/jocd.15218. PMID: 35801366Free PMC Article
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
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
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

Recent systematic reviews

Czech T, Sugihara S, Nishimura Y
J Cosmet Dermatol 2022 Sep;21(9):3655-3662. Epub 2022 Jul 19 doi: 10.1111/jocd.15218. PMID: 35801366Free 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
Żychowska M, Żychowska M
Int J Dermatol 2021 Jul;60(7):818-828. Epub 2020 Dec 15 doi: 10.1111/ijd.15365. PMID: 33319363
Sharma AN, Michelle L, Juhasz M, Muller Ramos P, Atanaskova Mesinkovska N
Int J Dermatol 2020 Aug;59(8):1013-1019. Epub 2020 Jun 9 doi: 10.1111/ijd.14933. PMID: 32516434
Gentile P, Garcovich S
Int J Mol Sci 2020 Apr 13;21(8) doi: 10.3390/ijms21082702. PMID: 32295047Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...