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Generalized keratosis follicularis

MedGen UID:
870433
Concept ID:
C4024879
Disease or Syndrome
Synonym: Generalised keratosis follicularis
 
HPO: HP:0007439

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized keratosis follicularis

Conditions with this feature

Keratosis follicularis-dwarfism-cerebral atrophy syndrome
MedGen UID:
374340
Concept ID:
C1839910
Disease or Syndrome
A rare, genetic, developmental defect during embryogenesis syndrome characterized by generalized keratosis follicularis, severe proportionate dwarfism and cerebral atrophy. Alopecia (of scalp, eyebrows and eyelashes) and microcephaly are additionally observed features. Intellectual disability, inguinal hernia and epilepsy may also be associated. There have been no further descriptions in the literature since 1974.

Professional guidelines

PubMed

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Hanna N, Lam M, Fleming P, Lynde CW
J Cutan Med Surg 2022 May-Jun;26(3):280-290. Epub 2021 Nov 28 doi: 10.1177/12034754211058405. PMID: 34841914Free PMC Article
Haber RN, Dib NG
Indian J Dermatol Venereol Leprol 2021 Jan-Feb;87(1):14-21. doi: 10.25259/IJDVL_963_19. PMID: 33580925

Recent clinical studies

Etiology

Franceschi N, Gašić A, Šitum M, Majda V, Kolić M
Acta Dermatovenerol Croat 2022 Nov;30(3):201-202. PMID: 36812285
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
Nurmatov UB, Rhatigan E, Simons FE, Sheikh A
Allergy 2015 Sep;70(9):1052-61. Epub 2015 Jul 6 doi: 10.1111/all.12672. PMID: 26095756
Bernárdez C, Molina-Ruiz AM, Requena L
Actas Dermosifiliogr 2015 May;106(4):260-70. Epub 2014 Oct 24 doi: 10.1016/j.ad.2014.06.016. PMID: 25439143
Hamada T, Tsuruta D, Fukuda S, Ishii N, Teye K, Numata S, Dainichi T, Karashima T, Ohata C, Furumura M, Hashimoto T
Exp Dermatol 2013 Feb;22(2):83-7. Epub 2012 Oct 8 doi: 10.1111/exd.12021. PMID: 23039137

Diagnosis

Kodali N, Patel VM, Schwartz RA
Ital J Dermatol Venerol 2023 Jun;158(3):217-223. Epub 2023 May 11 doi: 10.23736/S2784-8671.23.07594-1. PMID: 37166753
Drivenes JL, Vasilescu IC, Bygum A
Tidsskr Nor Laegeforen 2023 Mar 28;143(5) Epub 2023 Mar 7 doi: 10.4045/tidsskr.22.0513. PMID: 36987905
Pinna R, Cocco F, Campus G, Conti G, Milia E, Sardella A, Cagetti MG
Periodontol 2000 2019 Jun;80(1):12-27. doi: 10.1111/prd.12261. PMID: 31090139
Wick MR
Semin Diagn Pathol 2017 May;34(3):250-260. Epub 2016 Dec 14 doi: 10.1053/j.semdp.2016.12.001. PMID: 28108048
Bernárdez C, Molina-Ruiz AM, Requena L
Actas Dermosifiliogr 2015 May;106(4):260-70. Epub 2014 Oct 24 doi: 10.1016/j.ad.2014.06.016. PMID: 25439143

Therapy

Hanna N, Lam M, Fleming P, Lynde CW
J Cutan Med Surg 2022 May-Jun;26(3):280-290. Epub 2021 Nov 28 doi: 10.1177/12034754211058405. PMID: 34841914Free PMC Article
Haber RN, Dib NG
Indian J Dermatol Venereol Leprol 2021 Jan-Feb;87(1):14-21. doi: 10.25259/IJDVL_963_19. PMID: 33580925
Flores-Terry MÁ, García-Arpa M, Llamas-Velasco M, Mendoza-Chaparro C, Ramos-Rodríguez C
Actas Dermosifiliogr 2017 Sep;108(7):e49-e52. Epub 2017 Apr 10 doi: 10.1016/j.ad.2017.02.012. PMID: 28407871
Nurmatov UB, Rhatigan E, Simons FE, Sheikh A
Allergy 2015 Sep;70(9):1052-61. Epub 2015 Jul 6 doi: 10.1111/all.12672. PMID: 26095756
Orfanos CE, Ehlert R, Gollnick H
Drugs 1987 Oct;34(4):459-503. doi: 10.2165/00003495-198734040-00003. PMID: 3315625

Prognosis

Rydz A, Lange M, Ługowska-Umer H, Sikorska M, Nowicki RJ, Morales-Cabeza C, Alvarez-Twose I
Int J Mol Sci 2024 Jan 23;25(3) doi: 10.3390/ijms25031401. PMID: 38338679
D'Acunto C, Orlandi C, Purpura V, Melandri D
Adv Skin Wound Care 2020 Oct;33(10):1-4. doi: 10.1097/01.ASW.0000694144.13825.59. PMID: 32889820
Balić A, Jerković Gulin S, Čeović R, Ilić I, Radoš J
Acta Dermatovenerol Croat 2019 Jun;27(2):131-132. PMID: 31351512
Lacarrubba F, Verzì AE, Dinotta F, Scavo S, Micali G
G Ital Dermatol Venereol 2015 Oct;150(5):521-31. PMID: 26333553
Duarte GV, Cunha R
An Bras Dermatol 2011 Nov-Dec;86(6):1222-7. doi: 10.1590/s0365-05962011000600032. PMID: 22281922

Clinical prediction guides

Franceschi N, Gašić A, Šitum M, Majda V, Kolić M
Acta Dermatovenerol Croat 2022 Nov;30(3):201-202. PMID: 36812285
Salava A, Salo V, Remitz A
J Dermatol 2022 Sep;49(9):928-932. Epub 2022 May 26 doi: 10.1111/1346-8138.16477. PMID: 35616138Free PMC Article
Lacarrubba F, Verzì AE, Dinotta F, Scavo S, Micali G
G Ital Dermatol Venereol 2015 Oct;150(5):521-31. PMID: 26333553
Landeck L, Visser M, Kezic S, John SM
Contact Dermatitis 2013 Mar;68(3):149-55. doi: 10.1111/j.1600-0536.2012.02171.x. PMID: 23421459
Orfanos CE, Ehlert R, Gollnick H
Drugs 1987 Oct;34(4):459-503. doi: 10.2165/00003495-198734040-00003. PMID: 3315625

Recent systematic reviews

Nurmatov UB, Rhatigan E, Simons FE, Sheikh A
Allergy 2015 Sep;70(9):1052-61. Epub 2015 Jul 6 doi: 10.1111/all.12672. PMID: 26095756

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