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Keratosis follicularis spinulosa decalvans

MedGen UID:
83355
Concept ID:
C0343057
Congenital Abnormality
Synonyms: Keratosis follicularis spinulosa decalvans cum ophiasi; Keratosis pilaris decalvans
SNOMED CT: Keratosis follicularis spinulosa decalvans (238626006); Keratosis pilaris decalvans (238626006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked recessive inheritance
MedGen UID:
375779
Concept ID:
C1845977
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
 
Monarch Initiative: MONDO:0000136
Orphanet: ORPHA2340

Definition

Keratosis follicularis spinulosa decalvans is a rare genodermatosis occurring during infancy or childhood, predominantly affecting males, and characterized by diffuse follicular hyperkeratosis associated with progressive cicatricial alopecia of the scalp, eyebrows and eyelashes. Additional findings can include photophobia, corneal dystrophy, facial erythema, and/or palmoplantar keratoderma. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKeratosis follicularis spinulosa decalvans
Follow this link to review classifications for Keratosis follicularis spinulosa decalvans in Orphanet.

Professional guidelines

PubMed

Bornholdt D, Atkinson TP, Bouadjar B, Catteau B, Cox H, De Silva D, Fischer J, Gunasekera CN, Hadj-Rabia S, Happle R, Holder-Espinasse M, Kaminski E, König A, Mégarbané A, Mégarbané H, Neidel U, Oeffner F, Oji V, Theos A, Traupe H, Vahlquist A, van Bon BW, Virtanen M, Grzeschik KH
Hum Mutat 2013 Apr;34(4):587-94. Epub 2013 Mar 8 doi: 10.1002/humu.22275. PMID: 23316014
Otberg N, Wu WY, McElwee KJ, Shapiro J
Skinmed 2008 Jan-Feb;7(1):19-26. doi: 10.1111/j.1540-9740.2007.07163.x. PMID: 18174797

Recent clinical studies

Etiology

Lan X, Qiao R, Sun J, Song H, Gao M, Mo R, Song Z, Yang Y, Jiang Y
J Dermatol 2024 Feb;51(2):253-260. Epub 2023 Dec 12 doi: 10.1111/1346-8138.17026. PMID: 38087855
Medori MC, Gisondi P, Bellinato F, Bonetti G, Micheletti C, Donato K, Dhuli K, Ergoren MC, Cristofoli F, Cecchin S, Marceddu G, Bertelli M
Clin Ter 2023 Nov-Dec;174(Suppl 2(6)):236-242. doi: 10.7417/CT.2023.2493. PMID: 37994770
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
Ramos-e-Silva M, Pirmez R
Clin Dermatol 2014 Nov-Dec;32(6):784-99. Epub 2014 Mar 1 doi: 10.1016/j.clindermatol.2014.02.018. PMID: 25441472
Rand R, Baden HP
Arch Dermatol 1983 Jan;119(1):22-6. doi: 10.1001/archderm.119.1.22. PMID: 6336927

Diagnosis

Lan X, Qiao R, Sun J, Song H, Gao M, Mo R, Song Z, Yang Y, Jiang Y
J Dermatol 2024 Feb;51(2):253-260. Epub 2023 Dec 12 doi: 10.1111/1346-8138.17026. PMID: 38087855
Medori MC, Gisondi P, Bellinato F, Bonetti G, Micheletti C, Donato K, Dhuli K, Ergoren MC, Cristofoli F, Cecchin S, Marceddu G, Bertelli M
Clin Ter 2023 Nov-Dec;174(Suppl 2(6)):236-242. doi: 10.7417/CT.2023.2493. PMID: 37994770
Zhang J, Wang Y, Cheng R, Ni C, Liang J, Li M, Yao Z
Clin Exp Dermatol 2016 Oct;41(7):757-60. doi: 10.1111/ced.12889. PMID: 27663151
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
Aten E, Brasz LC, Bornholdt D, Hooijkaas IB, Porteous ME, Sybert VP, Vermeer MH, Vossen RH, van der Wielen MJ, Bakker E, Breuning MH, Grzeschik KH, Oosterwijk JC, den Dunnen JT
Hum Mutat 2010 Oct;31(10):1125-33. doi: 10.1002/humu.21335. PMID: 20672378

Therapy

Goh MS, Magee J, Chong AH
Australas J Dermatol 2005 Nov;46(4):257-60. doi: 10.1111/j.1440-0960.2005.00196.x. PMID: 16197427
Puppin D, Aractingi S, Dubertret L, Blanchet-Bardon C
Dermatology 1992;184(2):133-6. doi: 10.1159/000247521. PMID: 1498376

Prognosis

Ramos-e-Silva M, Pirmez R
Clin Dermatol 2014 Nov-Dec;32(6):784-99. Epub 2014 Mar 1 doi: 10.1016/j.clindermatol.2014.02.018. PMID: 25441472
Khumalo NP, Loo WJ, Hollowood K, Salvary I, Graham RM, Dawber RP
J Eur Acad Dermatol Venereol 2002 Jul;16(4):397-400. doi: 10.1046/j.1468-3083.2002.00472.x. PMID: 12224702
Oosterwijk JC, Nelen M, van Zandvoort PM, van Osch LD, Oranje AP, Wittebol-Post D, van Oost BA
Am J Hum Genet 1992 Apr;50(4):801-7. PMID: 1550124Free PMC Article
Rand R, Baden HP
Arch Dermatol 1983 Jan;119(1):22-6. doi: 10.1001/archderm.119.1.22. PMID: 6336927

Clinical prediction guides

Lan X, Qiao R, Sun J, Song H, Gao M, Mo R, Song Z, Yang Y, Jiang Y
J Dermatol 2024 Feb;51(2):253-260. Epub 2023 Dec 12 doi: 10.1111/1346-8138.17026. PMID: 38087855
Lim PJ, Marcionelli G, Srikanthan P, Ndarugendamwo T, Pinner J, Rohrbach M, Giunta C
Front Endocrinol (Lausanne) 2023;14:1195704. Epub 2023 May 25 doi: 10.3389/fendo.2023.1195704. PMID: 37305034Free PMC Article
Bellet JS, Kaplan AL, Selim MA, Olsen EA
J Am Acad Dermatol 2008 Mar;58(3):499-502. doi: 10.1016/j.jaad.2007.03.028. PMID: 18280351
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
Oosterwijk JC, Nelen M, van Zandvoort PM, van Osch LD, Oranje AP, Wittebol-Post D, van Oost BA
Am J Hum Genet 1992 Apr;50(4):801-7. PMID: 1550124Free PMC Article

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