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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.
See: Condition Record
Keratosis follicularis-dwarfism-cerebral atrophy syndrome

Professional guidelines

PubMed

Keratosis pilaris: an update and approach to management.
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
Therapeutic Options for the Treatment of Darier's Disease: A Comprehensive Review of the Literature.
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
Naltrexone for the Treatment of Darier and Hailey-Hailey Diseases.
Jfri A, Litvinov IV, Netchiporouk E
J Cutan Med Surg 2019 Jul/Aug;23(4):453-454. doi: 10.1177/1203475419843122. PMID: 31337235

Recent clinical studies

Etiology

Chicken skin based Milli Watt range biocompatible triboelectric nanogenerator for biomechanical energy harvesting.
Khan MU, Mohammad E, Abbas Y, Rezeq M, Mohammad B
Sci Rep 2023 Jun 22;13(1):10160. doi: 10.1038/s41598-023-36817-7. PMID: 37349344Free PMC Article
The Use of Allograft Skin for the Treatment of Darier Disease.
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
Kyrle's Disease in a Patient with Delusions of Parasitosis.
Tampa M, Sârbu MI, Matei C, Mihăilă DE, Potecă TD, Georgescu SR
Rom J Intern Med 2016 Jan-Mar;54(1):66-9. doi: 10.1515/rjim-2016-0008. PMID: 27141573
Histologic features of alopecias: part II: scarring alopecias.
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
Mosaicism for ATP2A2 mutations causes segmental Darier's disease.
Sakuntabhai A, Dhitavat J, Burge S, Hovnanian A
J Invest Dermatol 2000 Dec;115(6):1144-7. doi: 10.1046/j.1523-1747.2000.00182.x. PMID: 11121153

Diagnosis

Keratosis pilaris: an update and approach to management.
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
Keratosis pilaris.
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
Mimickers of classic acantholytic diseases.
Ho J, Bhawan J
J Dermatol 2017 Mar;44(3):232-242. doi: 10.1111/1346-8138.13769. PMID: 28256765
Tips to diagnose uncommon nail disorders.
Schneider SL, Tosti A
Dermatol Clin 2015 Apr;33(2):197-205. Epub 2015 Feb 14 doi: 10.1016/j.det.2014.12.003. PMID: 25828712
Histologic features of alopecias: part II: scarring alopecias.
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

Therapeutic Options for the Treatment of Darier's Disease: A Comprehensive Review of the Literature.
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
The Use of Allograft Skin for the Treatment of Darier Disease.
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
Naltrexone for the Treatment of Darier and Hailey-Hailey Diseases.
Jfri A, Litvinov IV, Netchiporouk E
J Cutan Med Surg 2019 Jul/Aug;23(4):453-454. doi: 10.1177/1203475419843122. PMID: 31337235
Acral Hemorrhagic Darier Disease.
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
Nilontinib induced keratosis pilaris atrophicans.
Khetarpal S, Sood A, Billings SD
Dermatol Online J 2016 Aug 15;22(8) PMID: 27617940

Prognosis

Chicken skin based Milli Watt range biocompatible triboelectric nanogenerator for biomechanical energy harvesting.
Khan MU, Mohammad E, Abbas Y, Rezeq M, Mohammad B
Sci Rep 2023 Jun 22;13(1):10160. doi: 10.1038/s41598-023-36817-7. PMID: 37349344Free PMC Article
The Use of Allograft Skin for the Treatment of Darier Disease.
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
Diffuse cutaneous bullous mastocytosis with IgM deposits at dermo-epidermal junction.
Slavescu KC, Chiorean R, Danescu S, Bota M, Rogojan L, Baican A
J Cutan Pathol 2016 Mar;43(3):263-9. Epub 2015 Oct 29 doi: 10.1111/cup.12635. PMID: 26435030
Dermatoscopy in inflammatory and infectious skin disorders.
Lacarrubba F, Verzì AE, Dinotta F, Scavo S, Micali G
G Ital Dermatol Venereol 2015 Oct;150(5):521-31. PMID: 26333553
Do you know this syndrome? Pachyonychia congenita.
Duarte GV, Cunha R
An Bras Dermatol 2011 Nov-Dec;86(6):1222-7. doi: 10.1590/s0365-05962011000600032. PMID: 22281922

Clinical prediction guides

Chicken skin based Milli Watt range biocompatible triboelectric nanogenerator for biomechanical energy harvesting.
Khan MU, Mohammad E, Abbas Y, Rezeq M, Mohammad B
Sci Rep 2023 Jun 22;13(1):10160. doi: 10.1038/s41598-023-36817-7. PMID: 37349344Free PMC Article
Hypopigmented segmental Darier disease.
Morin CB, Netchiporouk E, Billick RC, Srolovitz HD, Roshdy O
J Cutan Med Surg 2015 Jan-Feb;19(1):69-72. Epub 2015 Jan 1 doi: 10.2310/7750.2014.13176. PMID: 25775667
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2.
Porteous ME, Strain L, Logie LJ, Herd RM, Benton EC
J Med Genet 1998 Apr;35(4):336-7. doi: 10.1136/jmg.35.4.336. PMID: 9598732Free PMC Article
Genetic linkage for Darier disease (keratosis follicularis).
Kennedy JL, Berg D, Bassett AS, Roy R, King N, Perkins M
Am J Med Genet 1995 Jan 30;55(3):307-10. doi: 10.1002/ajmg.1320550312. PMID: 7537018Free PMC Article
Trichothiodystrophy: ultrastructural studies of two patients.
Calvieri S, Rossi A, Amorosi B, Giustini S, Innocenzi D, Micali G, Rizzo R
Pediatr Dermatol 1993 Jun;10(2):111-6. doi: 10.1111/j.1525-1470.1993.tb00033.x. PMID: 8346099

Recent systematic reviews

H1-antihistamines for primary mast cell activation syndromes: a systematic review.
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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