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Wooly hair, autosomal recessive 1, with or without hypotrichosis(ARWH1)

MedGen UID:
341227
Concept ID:
C1848435
Disease or Syndrome
Synonyms: Woolly Hair, Autosomal Recessive; Woolly hair, autosomal recessive 1; Woolly hair, autosomal recessive 1, with or without hypotrichosis
 
Monarch Initiative: MONDO:0800312
OMIM®: 278150; 609239

Definition

Autosomal recessive hypotrichosis is a condition that affects hair growth. People with this condition have sparse hair (hypotrichosis) on the scalp beginning in infancy. This hair is usually coarse, dry, and tightly curled (often described as woolly hair). Scalp hair may also be lighter in color than expected and is fragile and easily broken. Affected individuals often cannot grow hair longer than a few inches. The eyebrows, eyelashes, and other body hair may be sparse as well. Over time, the hair problems can remain stable or progress to complete scalp hair loss (alopecia) and a decrease in body hair.

Rarely, people with autosomal recessive hypotrichosis have skin problems affecting areas with sparse hair, such as redness (erythema), itchiness (pruritus), or missing patches of skin (erosions) on the scalp. In areas of poor hair growth, they may also develop bumps called hyperkeratotic follicular papules that develop around hair follicles, which are specialized structures in the skin where hair growth occurs. [from MedlinePlus Genetics]

Professional guidelines

PubMed

Ly NY, Fruechte S, Hordinsky MK, Sadick N, Arruda S, Farah RS
J Am Acad Dermatol 2023 Aug;89(2S):S36-S39. doi: 10.1016/j.jaad.2023.05.004. PMID: 37591565
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
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

Recent clinical studies

Etiology

King BA, Mesinkovska NA, Craiglow B, Kindred C, Ko J, McMichael A, Shapiro J, Goh C, Mirmirani P, Tosti A, Hordinsky M, Huang KP, Castelo-Soccio L, Bergfeld W, Paller AS, Mackay-Wiggan J, Glashofer M, Aguh C, Piliang M, Yazdan P, Lo Sicco K, Cassella JV, Koenigsberg J, Ahluwalia G, Ghorayeb E, Fakharzadeh S, Napatalung L, Gandhi K, DeLozier AM, Nunes FP, Senna MM
J Am Acad Dermatol 2022 Feb;86(2):359-364. Epub 2021 Aug 30 doi: 10.1016/j.jaad.2021.08.043. PMID: 34474079
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
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
Rossi A, Muscianese M, Piraccini BM, Starace M, Carlesimo M, Mandel VD, Alessandrini A, Calvieri S, Caro G, D'arino A, Federico A, Magri F, Pigliacelli F, Amendolagine G, Annunziata MC, Arisi MC, Astorino S, Babino G, Bardazzi F, Barruscotti S, Belloni Fortina A, Borghi A, Bruni F, Caccavale S, Calzavara-Pinton P, Cameli N, Cardone M, Carugno A, Coppola R, Dattola A, De Felici Del Giudice MB, Di Cesare A, Dika E, Di Nunno D, D'ovidio R, Fabbrocini G, Feliciani C, Fulgione E, Galluzzo M, Garcovich S, Garelli V, Guerriero C, Hansel K, La Placa M, Lacarrubba F, Lora V, Marinello E, Megna M, Micali G, Misciali C, Monari P, Monfrecola G, Neri I, Offidani A, Orlando G, Papini M, Patrizi A, Piaserico S, Rivetti N, Simonetti O, Stan TR, Stingeni L, Talamonti M, Tassone F, Villa L, Vincenzi C, Fortuna MC
G Ital Dermatol Venereol 2019 Dec;154(6):609-623. Epub 2019 Sep 26 doi: 10.23736/S0392-0488.19.06458-7. PMID: 31578836
Otberg N
Dermatol Clin 2013 Jan;31(1):155-66. Epub 2012 Oct 26 doi: 10.1016/j.det.2012.08.016. PMID: 23159184

Diagnosis

Alhanshali L, Buontempo M, Shapiro J, Lo Sicco K
J Am Acad Dermatol 2023 Aug;89(2S):S20-S28. doi: 10.1016/j.jaad.2023.04.022. PMID: 37591561
Larrondo J, McMichael AJ
JAMA Dermatol 2023 Jun 1;159(6):676. doi: 10.1001/jamadermatol.2022.6298. PMID: 37133879
King BA, Mesinkovska NA, Craiglow B, Kindred C, Ko J, McMichael A, Shapiro J, Goh C, Mirmirani P, Tosti A, Hordinsky M, Huang KP, Castelo-Soccio L, Bergfeld W, Paller AS, Mackay-Wiggan J, Glashofer M, Aguh C, Piliang M, Yazdan P, Lo Sicco K, Cassella JV, Koenigsberg J, Ahluwalia G, Ghorayeb E, Fakharzadeh S, Napatalung L, Gandhi K, DeLozier AM, Nunes FP, Senna MM
J Am Acad Dermatol 2022 Feb;86(2):359-364. Epub 2021 Aug 30 doi: 10.1016/j.jaad.2021.08.043. PMID: 34474079
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
Gilhar A, Etzioni A, Paus R
N Engl J Med 2012 Apr 19;366(16):1515-25. doi: 10.1056/NEJMra1103442. PMID: 22512484

Therapy

King BA, Craiglow BG
J Am Acad Dermatol 2023 Aug;89(2S):S29-S32. doi: 10.1016/j.jaad.2023.05.049. PMID: 37591562
Alhanshali L, Buontempo M, Shapiro J, Lo Sicco K
J Am Acad Dermatol 2023 Aug;89(2S):S20-S28. doi: 10.1016/j.jaad.2023.04.022. PMID: 37591561
Kazmi A, Moussa A, Bokhari L, Bhoyrul B, Joseph S, Chitreddy V, Eisman S, Meah N, Sinclair R
J Am Acad Dermatol 2023 Dec;89(6):1248-1250. Epub 2023 Apr 5 doi: 10.1016/j.jaad.2023.03.041. PMID: 37024053
Qi J, Garza LA
Cold Spring Harb Perspect Med 2014 Mar 1;4(3) doi: 10.1101/cshperspect.a013615. PMID: 24591533Free PMC Article
Gilhar A, Etzioni A, Paus R
N Engl J Med 2012 Apr 19;366(16):1515-25. doi: 10.1056/NEJMra1103442. PMID: 22512484

Prognosis

Haughton RD, Herbert SM, Ji-Xu A, Downing L, Raychaudhuri SP, Maverakis E
Indian J Dermatol Venereol Leprol 2023 Nov-Dec;89(6):799-806. doi: 10.25259/IJDVL_1093_2022. PMID: 37436019
Rossi A, Muscianese M, Piraccini BM, Starace M, Carlesimo M, Mandel VD, Alessandrini A, Calvieri S, Caro G, D'arino A, Federico A, Magri F, Pigliacelli F, Amendolagine G, Annunziata MC, Arisi MC, Astorino S, Babino G, Bardazzi F, Barruscotti S, Belloni Fortina A, Borghi A, Bruni F, Caccavale S, Calzavara-Pinton P, Cameli N, Cardone M, Carugno A, Coppola R, Dattola A, De Felici Del Giudice MB, Di Cesare A, Dika E, Di Nunno D, D'ovidio R, Fabbrocini G, Feliciani C, Fulgione E, Galluzzo M, Garcovich S, Garelli V, Guerriero C, Hansel K, La Placa M, Lacarrubba F, Lora V, Marinello E, Megna M, Micali G, Misciali C, Monari P, Monfrecola G, Neri I, Offidani A, Orlando G, Papini M, Patrizi A, Piaserico S, Rivetti N, Simonetti O, Stan TR, Stingeni L, Talamonti M, Tassone F, Villa L, Vincenzi C, Fortuna MC
G Ital Dermatol Venereol 2019 Dec;154(6):609-623. Epub 2019 Sep 26 doi: 10.23736/S0392-0488.19.06458-7. PMID: 31578836
Juárez-Rendón KJ, Rivera Sánchez G, Reyes-López MÁ, García-Ortiz JE, Bocanegra-García V, Guardiola-Avila I, Altamirano-García ML
Arch Argent Pediatr 2017 Dec 1;115(6):e404-e411. doi: 10.5546/aap.2017.eng.e404. PMID: 29087123
Ramos-E-Silva M, Carvalho JC, Carneiro SC
Clin Dermatol 2011 Sep-Oct;29(5):541-7. doi: 10.1016/j.clindermatol.2010.09.022. PMID: 21855730
Madani S, Shapiro J
J Am Acad Dermatol 2000 Apr;42(4):549-66; quiz 567-70. PMID: 10727299

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
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
Gómez-Quispe H, Muñoz Moreno-Arrones O, Hermosa-Gelbard Á, Vañó-Galván S, Saceda-Corralo D
Actas Dermosifiliogr 2023 Jan;114(1):25-32. Epub 2022 Sep 5 doi: 10.1016/j.ad.2022.08.018. PMID: 36067826
Gupta AK, Talukder M, Bamimore MA
Dermatol Ther 2022 Apr;35(4):e15323. Epub 2022 Jan 27 doi: 10.1111/dth.15323. PMID: 35044013

Recent systematic reviews

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
Barton VR, Toussi A, Awasthi S, Kiuru M
J Am Acad Dermatol 2022 Jun;86(6):1318-1334. Epub 2021 Apr 30 doi: 10.1016/j.jaad.2021.04.077. PMID: 33940103Free 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
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
Shreberk-Hassidim R, Ramot Y, Zlotogorski A
J Am Acad Dermatol 2017 Apr;76(4):745-753.e19. Epub 2017 Feb 4 doi: 10.1016/j.jaad.2016.12.004. PMID: 28169015

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