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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

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
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

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
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
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

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
Goldberg LJ
J Am Acad Dermatol 2023 Aug;89(2S):S1-S2. doi: 10.1016/j.jaad.2023.05.048. PMID: 37591559
Larrondo J, McMichael AJ
JAMA Dermatol 2023 Jun 1;159(6):676. doi: 10.1001/jamadermatol.2022.6298. PMID: 37133879
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
Gupta AK, Talukder M, Bamimore MA
Dermatol Ther 2022 Apr;35(4):e15323. Epub 2022 Jan 27 doi: 10.1111/dth.15323. PMID: 35044013
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
Gilhar A, Etzioni A, Paus R
N Engl J Med 2012 Apr 19;366(16):1515-25. doi: 10.1056/NEJMra1103442. PMID: 22512484

Prognosis

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
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
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
Strazzulla LC, Wang EHC, Avila L, Lo Sicco K, Brinster N, Christiano AM, Shapiro J
J Am Acad Dermatol 2018 Jan;78(1):1-12. doi: 10.1016/j.jaad.2017.04.1141. PMID: 29241771
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

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
Gomes TF, Soares RO
J Dtsch Dermatol Ges 2023 Jan;21(1):19-25. Epub 2023 Jan 23 doi: 10.1111/ddg.14940. PMID: 36688435
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
Strazzulla LC, Wang EHC, Avila L, Lo Sicco K, Brinster N, Christiano AM, Shapiro J
J Am Acad Dermatol 2018 Jan;78(1):1-12. doi: 10.1016/j.jaad.2017.04.1141. PMID: 29241771

Recent systematic reviews

Gupta AK, Polla Ravi S, Wang T, Talukder M, Starace M, Piraccini BM
J Dermatolog Treat 2023 Dec;34(1):2245084. doi: 10.1080/09546634.2023.2245084. PMID: 37558233
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
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

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