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Familial focal alopecia(ALPF)

MedGen UID:
350835
•Concept ID:
C1863092
•
Disease or Syndrome
Synonym: Alopecia, Familial Focal
 
Monarch Initiative: MONDO:0007084
OMIM®: 104110

Clinical features

From HPO
Patchy alopecia
MedGen UID:
350774
•Concept ID:
C1862862
•
Finding
Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Alopecia areata: a review on diagnosis, immunological etiopathogenesis and treatment options.
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
Childhood Alopecia Areata: An Overview of Treatment and Recent Patents.
Hon KL, Luk DCK, Leung AKC, Ng C, Loo SKF
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):117-132. doi: 10.2174/1872213X14999200728145822. PMID: 32723274
PUVA treatment for alopecia areata.
Lassus A, Kianto U, Johansson E, Juvakoski T
Dermatologica 1980;161(5):298-304. doi: 10.1159/000250381. PMID: 7439478

Recent clinical studies

Etiology

Cutaneous Cryosurgery for Common Skin Conditions.
Clebak KT, Mendez-Miller M, Croad J
Am Fam Physician 2020 Apr 1;101(7):399-406. PMID: 32227823
Nevus comedonicus of the scalp.
Kaliyadan F, Nambiar A, Al Ameer A, Amri M
Skinmed 2014 Jan-Feb;12(1):59-60. PMID: 24720088
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC
Am J Hum Genet 2013 Jan 10;92(1):81-7. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.022. PMID: 23246290Free PMC Article
Familial localized connective tissue nevus of the scalp with alopecia (report of a very unusual case).
Aroni K, Kyriazi E, Aivaliotis M, Davaris P
J Eur Acad Dermatol Venereol 2004 May;18(3):340-1. doi: 10.1111/j.1468-3083.2004.00865.x. PMID: 15096150
Alopecia areata and auto-immunity.
Friedmann PS
Br J Dermatol 1981 Aug;105(2):153-7. doi: 10.1111/j.1365-2133.1981.tb01200.x. PMID: 7284245

Diagnosis

Erythroderma with total scarring alopecia.
Karrakchou B, Fliti A, Meziane M, Senouci K
BMJ Case Rep 2023 Jan 31;16(1) doi: 10.1136/bcr-2022-250782. PMID: 36720517Free PMC Article
Alopecia areata: a review on diagnosis, immunological etiopathogenesis and treatment options.
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
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
Narayanan MJ, Rangasamy S, Narayanan V
Handb Clin Neurol 2015;132:271-80. doi: 10.1016/B978-0-444-62702-5.00020-2. PMID: 26564087
Cutaneous cryosurgery.
Zimmerman EE, Crawford P
Am Fam Physician 2012 Dec 15;86(12):1118-24. PMID: 23316984
X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.
Lungarotti MS, Martello C, Barboni G, Mezzetti D, Mariotti G, Calabro A
Am J Med Genet 1994 Jul 15;51(4):598-601. doi: 10.1002/ajmg.1320510460. PMID: 7943046

Therapy

First-in-Human, Phase I Dose-Escalation and Dose-Expansion Study of Trophoblast Cell-Surface Antigen 2-Directed Antibody-Drug Conjugate Datopotamab Deruxtecan in Non-Small-Cell Lung Cancer: TROPION-PanTumor01.
Shimizu T, Sands J, Yoh K, Spira A, Garon EB, Kitazono S, Johnson ML, Meric-Bernstam F, Tolcher AW, Yamamoto N, Greenberg J, Kawasaki Y, Zebger-Gong H, Kobayashi F, Phillips P, Lisberg AE, Heist RS
J Clin Oncol 2023 Oct 10;41(29):4678-4687. Epub 2023 Jun 16 doi: 10.1200/JCO.23.00059. PMID: 37327461Free PMC Article
Enfortumab Vedotin Plus Pembrolizumab in Previously Untreated Advanced Urothelial Cancer.
Hoimes CJ, Flaig TW, Milowsky MI, Friedlander TW, Bilen MA, Gupta S, Srinivas S, Merchan JR, McKay RR, Petrylak DP, Sasse C, Moreno BH, Yu Y, Carret AS, Rosenberg JE
J Clin Oncol 2023 Jan 1;41(1):22-31. Epub 2022 Aug 30 doi: 10.1200/JCO.22.01643. PMID: 36041086Free PMC Article
Infigratinib (BGJ398) in previously treated patients with advanced or metastatic cholangiocarcinoma with FGFR2 fusions or rearrangements: mature results from a multicentre, open-label, single-arm, phase 2 study.
Javle M, Roychowdhury S, Kelley RK, Sadeghi S, Macarulla T, Weiss KH, Waldschmidt DT, Goyal L, Borbath I, El-Khoueiry A, Borad MJ, Yong WP, Philip PA, Bitzer M, Tanasanvimon S, Li A, Pande A, Soifer HS, Shepherd SP, Moran S, Zhu AX, Bekaii-Saab TS, Abou-Alfa GK
Lancet Gastroenterol Hepatol 2021 Oct;6(10):803-815. Epub 2021 Aug 3 doi: 10.1016/S2468-1253(21)00196-5. PMID: 34358484
Alopecia areata: a review on diagnosis, immunological etiopathogenesis and treatment options.
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
Targeting the Janus Kinase Family in Autoimmune Skin Diseases.
Howell MD, Kuo FI, Smith PA
Front Immunol 2019;10:2342. Epub 2019 Oct 9 doi: 10.3389/fimmu.2019.02342. PMID: 31649667Free PMC Article

Prognosis

Alopecia areata: a review on diagnosis, immunological etiopathogenesis and treatment options.
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
Childhood Alopecia Areata: An Overview of Treatment and Recent Patents.
Hon KL, Luk DCK, Leung AKC, Ng C, Loo SKF
Recent Pat Inflamm Allergy Drug Discov 2020;14(2):117-132. doi: 10.2174/1872213X14999200728145822. PMID: 32723274
Nevus comedonicus of the scalp.
Kaliyadan F, Nambiar A, Al Ameer A, Amri M
Skinmed 2014 Jan-Feb;12(1):59-60. PMID: 24720088
Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC
Am J Hum Genet 2013 Jan 10;92(1):81-7. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.022. PMID: 23246290Free PMC Article
Familial localized connective tissue nevus of the scalp with alopecia (report of a very unusual case).
Aroni K, Kyriazi E, Aivaliotis M, Davaris P
J Eur Acad Dermatol Venereol 2004 May;18(3):340-1. doi: 10.1111/j.1468-3083.2004.00865.x. PMID: 15096150

Clinical prediction guides

Mutations in SNRPE, which encodes a core protein of the spliceosome, cause autosomal-dominant hypotrichosis simplex.
Pasternack SM, Refke M, Paknia E, Hennies HC, Franz T, Schäfer N, Fryer A, van Steensel M, Sweeney E, Just M, Grimm C, Kruse R, Ferrándiz C, Nöthen MM, Fischer U, Betz RC
Am J Hum Genet 2013 Jan 10;92(1):81-7. Epub 2012 Dec 13 doi: 10.1016/j.ajhg.2012.10.022. PMID: 23246290Free PMC Article
Cutaneous cryosurgery.
Zimmerman EE, Crawford P
Am Fam Physician 2012 Dec 15;86(12):1118-24. PMID: 23316984
Localization of a novel locus for alopecia with mental retardation syndrome to chromosome 3q26.33-q27.3.
John P, Ali G, Chishti MS, Naqvi SM, Leal SM, Ahmad W
Hum Genet 2006 Jan;118(5):665-7. Epub 2005 Nov 5 doi: 10.1007/s00439-005-0086-9. PMID: 16273389Free PMC Article
A gene for hypotrichosis simplex of the scalp maps to chromosome 6p21.3.
Betz RC, Lee YA, Bygum A, Brandrup F, Bernal AI, Toribio J, Alvarez JI, Kukuk GM, Ibsen HH, Rasmussen HB, Wienker TF, Reis A, Propping P, Kruse R, Cichon S, Nöthen MM
Am J Hum Genet 2000 Jun;66(6):1979-83. Epub 2000 May 2 doi: 10.1086/302934. PMID: 10793007Free PMC Article
X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.
Lungarotti MS, Martello C, Barboni G, Mezzetti D, Mariotti G, Calabro A
Am J Med Genet 1994 Jul 15;51(4):598-601. doi: 10.1002/ajmg.1320510460. PMID: 7943046

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