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Hypotrichosis 6(HYPT6)

MedGen UID:
335812
Concept ID:
C1842839
Disease or Syndrome
Synonyms: HYPOTRICHOSIS, LOCALIZED, AUTOSOMAL RECESSIVE 1; HYPT6; Localized Autosomal Recessive Hypotrichosis; MONILETHRIX-LIKE HYPOTRICHOSIS
 
Gene (location): DSG4 (18q12.1)
 
Monarch Initiative: MONDO:0011932
OMIM®: 607903

Definition

Hypotrichosis-6 (HYPT6) is a localized autosomal recessive hypotrichosis 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. In some patients with congenital hypotrichosis, monilethrix-like hairs showing elliptical nodes have been observed (summary by Schaffer et al., 2006). Genetic Heterogeneity of Autosomal Recessive Localized Hypotrichosis LAH2 (HYPT7; 604379) is caused by mutation in the LIPH gene (607365) on chromosome 3q27, and LAH3 (HYPT8; 278150) is caused by mutation in the LPAR6 (P2RY5) gene (609239) on chromosome 13q14.12-q14.2. See also hypotrichosis and recurrent skin vesicles (613102), which is caused by mutation in the DSC3 gene (600271). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

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.  https://medlineplus.gov/genetics/condition/autosomal-recessive-hypotrichosis

Clinical features

From HPO
Sparse eyebrow
MedGen UID:
371332
Concept ID:
C1832446
Finding
Decreased density/number of eyebrow hairs.
Pruritus
MedGen UID:
19534
Concept ID:
C0033774
Sign or Symptom
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus.
Erythema
MedGen UID:
11999
Concept ID:
C0041834
Disease or Syndrome
Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin.
Brittle hair
MedGen UID:
120480
Concept ID:
C0263490
Disease or Syndrome
Fragile, easily breakable hair, i.e., with reduced tensile strength.
Pili torti
MedGen UID:
82670
Concept ID:
C0263491
Finding
Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope.
Phrynoderma
MedGen UID:
83101
Concept ID:
C0334013
Disease or Syndrome
A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum.
Sparse eyelashes
MedGen UID:
375151
Concept ID:
C1843300
Finding
Decreased density/number of eyelashes.
Sparse hair
MedGen UID:
1790211
Concept ID:
C5551005
Finding
Reduced density of hairs.

Professional guidelines

PubMed

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
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
Phillips TG, Slomiany WP, Allison R
Am Fam Physician 2017 Sep 15;96(6):371-378. PMID: 28925637

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
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
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
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
Bertoli MJ, Sadoughifar R, Schwartz RA, Lotti TM, Janniger CK
Dermatol Ther 2020 Nov;33(6):e14055. Epub 2020 Aug 31 doi: 10.1111/dth.14055. PMID: 32700775

Diagnosis

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
Bertoli MJ, Sadoughifar R, Schwartz RA, Lotti TM, Janniger CK
Dermatol Ther 2020 Nov;33(6):e14055. Epub 2020 Aug 31 doi: 10.1111/dth.14055. PMID: 32700775
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
Phillips TG, Slomiany WP, Allison R
Am Fam Physician 2017 Sep 15;96(6):371-378. PMID: 28925637

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
Piraccini BM, Blume-Peytavi U, Scarci F, Jansat JM, Falqués M, Otero R, Tamarit ML, Galván J, Tebbs V, Massana E; Topical Finasteride Study Group
J Eur Acad Dermatol Venereol 2022 Feb;36(2):286-294. Epub 2021 Oct 25 doi: 10.1111/jdv.17738. PMID: 34634163Free PMC Article
Gupta AK, Talukder M, Venkataraman M, Bamimore MA
J Dermatolog Treat 2022 Jun;33(4):1896-1906. Epub 2021 Jul 20 doi: 10.1080/09546634.2021.1945527. PMID: 34159872
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
Glass GE
Aesthet Surg J 2021 May 18;41(6):723-738. doi: 10.1093/asj/sjab025. PMID: 33471046

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
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
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
Cranwell WC, Lai VW, Photiou L, Meah N, Wall D, Rathnayake D, Joseph S, Chitreddy V, Gunatheesan S, Sindhu K, Sharma P, Green J, Eisman S, Yip L, Jones L, Sinclair R
Australas J Dermatol 2019 May;60(2):163-170. Epub 2018 Nov 8 doi: 10.1111/ajd.12941. PMID: 30411329
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

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
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
Piraccini BM, Blume-Peytavi U, Scarci F, Jansat JM, Falqués M, Otero R, Tamarit ML, Galván J, Tebbs V, Massana E; Topical Finasteride Study Group
J Eur Acad Dermatol Venereol 2022 Feb;36(2):286-294. Epub 2021 Oct 25 doi: 10.1111/jdv.17738. PMID: 34634163Free PMC Article
Gupta AK, Foley KA
Skin Therapy Lett 2014 Nov-Dec;19(6):5-7. PMID: 25807073

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
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
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
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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