MCID: KRT014
MIFTS: 28

Keratosis Follicularis Spinulosa Decalvans malady

Rare diseases, Eye diseases, Skin diseases categories

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

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Sources:
45NIH Rare Diseases, 51Orphanet, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
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Aliases & Descriptions for Keratosis Follicularis Spinulosa Decalvans:

Name: Keratosis Follicularis Spinulosa Decalvans 45 51
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 45
 
Kfsd 45


Classifications:



Characteristics (Orphanet epidemiological data):

51
keratosis follicularis spinulosa decalvans:
Inheritance: Autosomal dominant,X-linked recessive; Age of onset: Childhood


External Ids:

Orphanet51 2340
UMLS via Orphanet66 C0343057
ICD10 via Orphanet28 Q82.8
MESH via Orphanet37 C536159

Summaries for Keratosis Follicularis Spinulosa Decalvans

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NIH Rare Diseases:45 Keratosis follicularis spinulosa decalvans (kfsd) is a rare, inherited, skin condition. kfsd is a form of ichthyoses, a group of inherited conditions of the skin in which the skin tends to be thick and rough, and to have a scaly appearance. the face, neck, and forearms are frequently involved. the thickening of the skin is accompanied by the loss of eyebrows, eyelashes, and hair on the face and head. allergic reactions (atopy), reduced tolerance of bright light (photophobia), and inflammation of the eye's cornea (keratitis) may also occur. kfsd is thought to be caused by mutations in the sat1 gene and inherited in an x-linked manner. last updated: 6/28/2011

MalaCards based summary: Keratosis Follicularis Spinulosa Decalvans, also known as keratosis follicularis spinulosa decalvans cum ophiasi, is related to keratosis and keratosis follicularis spinulosa decalvans, x-linked, and has symptoms including hyperkeratosis, alopecia and ichthyosis. An important gene associated with Keratosis Follicularis Spinulosa Decalvans is MBTPS2 (Membrane-Bound Transcription Factor Peptidase, Site 2). Affiliated tissues include skin and eye.

Wikipedia:68 Keratosis follicularis spinulosa decalvans (also known as \"Siemens-1 syndrome\") is a rare X-linked... more...

Related Diseases for Keratosis Follicularis Spinulosa Decalvans

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Graphical network of diseases related to Keratosis Follicularis Spinulosa Decalvans:



Diseases related to keratosis follicularis spinulosa decalvans

Symptoms for Keratosis Follicularis Spinulosa Decalvans

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Symptoms:

 51 (show all 22)
  • absent/decreased/thin eyebrows
  • hyperkeratosis/ainhum/hyperkeratotic skin fissures
  • ichthyosis/ichthyosiform dermatitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • follicular/erythematous/edematous papules/milium
  • thick skin/pachydermia/orange skin
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • alopecia
  • autosomal dominant inheritance
  • x-linked recessive inheritance
  • corneal clouding/opacity/vascularisation
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • retinal detachment
  • myopia
  • anomalies of eyelids, eyelashes and lacrimal system
  • ectropion/entropion/eyelid eversion
  • blepharitis/eyelid inflammation
  • abnormal fingernails
  • enamel anomaly
  • dental staining anomaly/spotted teeth/erythrodontia
  • multiple caries
  • eczema

HPO human phenotypes related to Keratosis Follicularis Spinulosa Decalvans:

(show all 13)
id Description Frequency HPO Source Accession
1 hyperkeratosis hallmark (90%) HP:0000962
2 alopecia hallmark (90%) HP:0001596
3 ichthyosis hallmark (90%) HP:0008064
4 aplasia/hypoplasia of the eyebrow hallmark (90%) HP:0100840
5 blepharitis typical (50%) HP:0000498
6 retinal detachment typical (50%) HP:0000541
7 myopia typical (50%) HP:0000545
8 abnormality of the fingernails typical (50%) HP:0001231
9 opacification of the corneal stroma typical (50%) HP:0007759
10 carious teeth occasional (7.5%) HP:0000670
11 abnormality of dental enamel occasional (7.5%) HP:0000682
12 eczema occasional (7.5%) HP:0000964
13 abnormality of dental color occasional (7.5%) HP:0011073

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Keratosis Follicularis Spinulosa Decalvans

Genetic Tests for Keratosis Follicularis Spinulosa Decalvans

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Anatomical Context for Keratosis Follicularis Spinulosa Decalvans

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MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans:

33
Skin, Eye

Animal Models for Keratosis Follicularis Spinulosa Decalvans or affiliated genes

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Publications for Keratosis Follicularis Spinulosa Decalvans

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Articles related to Keratosis Follicularis Spinulosa Decalvans:

(show all 31)
idTitleAuthorsYear
1
Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin. (26515859)
2015
2
Keratosis Follicularis Spinulosa Decalvans Associated wA+th Leukonychia. (25781302)
2014
3
Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. (23960394)
2013
4
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. (22816986)
2012
5
Keratosis follicularis spinulosa decalvans in a female. (21508573)
2011
6
Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. (20959277)
2010
7
Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. (20672378)
2010
8
Keratosis follicularis spinulosa decalvans: case report. (20944916)
2010
9
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. (18984066)
2009
10
Keratosis follicularis spinulosa decalvans in a family. (18280351)
2008
11
Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. (18284270)
2008
12
Familial keratosis follicularis spinulosa decalvans associated with woolly hair. (17651168)
2007
13
Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae. (16197427)
2005
14
Gene dosage of the spermidine/spermine N(1)-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). (12215835)
2002
15
Two brothers with keratosis follicularis spinulosa decalvans. (12399750)
2002
16
Psychomotor retardation - an unusual association of keratosis follicularis spinulosa decalvans. (20877117)
2000
17
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. (9598732)
1998
18
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. (9341865)
1997
19
Cicatricial alopecia and keratosis pilaris. Keratosis follicularis spinulosa decalvans. (9080901)
1997
20
Keratosis follicularis spinulosa decalvans: report of a new pedigree. (8745901)
1996
21
Keratosis follicularis spinulosa decalvans. (20952906)
1995
22
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. (8544196)
1995
23
Keratosis pilaris and scarring alopecia. Keratosis follicularis spinulosa decalvans. (1550376)
1992
24
Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. (1552542)
1992
25
Confirmation of X-linked inheritance and provisional mapping of the keratosis follicularis spinulosa decalvans gene on Xp in a large Dutch family. (1350668)
1992
26
Linkage analysis of keratosis follicularis spinulosa decalvans, and regional assignment to human chromosome Xp21.2-p22.2. (1550124)
1992
27
Keratosis follicularis spinulosa decalvans: report of a case with ultrastructural study and unsuccessful trial of retinoids. (1498376)
1992
28
Keratosis follicularis spinulosa decalvans with birefringent hairs. An association with variable keratoderma. (2975234)
1988
29
Keratosis follicularis spinulosa decalvans. Report of two cases and literature review. (6336927)
1983
30
Keratosis follicularis spinulosa decalvans. An infant with failure to thrive, deafness, and recurrent infections. (646399)
1978
31
Keratosis follicularis spinulosa decalvans in a family from northern Finland. (4101047)
1971

Variations for Keratosis Follicularis Spinulosa Decalvans

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Clinvar genetic disease variations for Keratosis Follicularis Spinulosa Decalvans:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MBTPS2NM_015884.3(MBTPS2): c.1523A> G (p.Asn508Ser)single nucleotide variantPathogenicrs587776867GRCh37Chr X, 21900736: 21900736

Expression for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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Search GEO for disease gene expression data for Keratosis Follicularis Spinulosa Decalvans.

Pathways for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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GO Terms for genes affiliated with Keratosis Follicularis Spinulosa Decalvans

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Sources for Keratosis Follicularis Spinulosa Decalvans

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet