KFSD
MCID: KRT014
MIFTS: 26

Keratosis Follicularis Spinulosa Decalvans (KFSD)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Keratosis Follicularis Spinulosa Decalvans

MalaCards integrated aliases for Keratosis Follicularis Spinulosa Decalvans:

Name: Keratosis Follicularis Spinulosa Decalvans 53 59 37
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant 72
Keratosis Follicularis Spinulosa Decalvans Cum Ophiasi 53
Keratosis Follicularis Spinulosa Decalvans, X-Linked 72
Kfsd 53

Characteristics:

Orphanet epidemiological data:

59
keratosis follicularis spinulosa decalvans
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood;

Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

KEGG 37 H00750
MESH via Orphanet 45 C536159
ICD10 via Orphanet 34 Q82.8
UMLS via Orphanet 73 C0343057
Orphanet 59 ORPHA2340
UMLS 72 C2748527 C3887525

Summaries for Keratosis Follicularis Spinulosa Decalvans

NIH Rare Diseases : 53 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.

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

KEGG : 37
Keratosis follicularis spinulosa decalvans (KFSD) is a rare genodermatosis characterized by hyperkeratotic follicular papules with progressive alopecia of the scalp and photophobia. It is initially described as a sex-linked disorder with typical palmoplantar keratoderma, but autosomal dominant form with marked erythema has been observed as well.

Related Diseases for Keratosis Follicularis Spinulosa Decalvans

Diseases in the Keratosis Follicularis Spinulosa Decalvans family:

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Diseases related to Keratosis Follicularis Spinulosa Decalvans via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 keratosis follicularis spinulosa decalvans, x-linked 34.6 SAT1 MBTPS2
2 keratosis 30.5 SAT1 MBTPS2 LRP1
3 corneal degeneration 30.3 SAT1 MBTPS2
4 keratosis follicularis spinulosa decalvans, autosomal dominant 13.2
5 keratosis pilaris atrophicans 12.2
6 ichthyosis follicularis atrichia photophobia syndrome 12.1
7 darier-white disease 11.3
8 alopecia 11.2
9 corneal dystrophy 10.9
10 palmoplantar keratosis 10.8
11 folliculitis 10.8
12 hypotrichosis 10.7
13 neurofibromatosis, type ii 10.6
14 ichthyosis 10.6
15 erythrokeratoderma ''en cocardes'' 10.6
16 ige responsiveness, atopic 10.5
17 keratitis, hereditary 10.5
18 down syndrome 10.5
19 46,xy sex reversal 2 10.5
20 branchiootic syndrome 1 10.5
21 patent ductus arteriosus 1 10.5
22 bacterial infectious disease 10.5
23 skin atrophy 10.5
24 tinea capitis 10.5
25 gingival hypertrophy 10.5
26 dermatophytosis 10.5
27 stomatitis 10.5
28 tufted hair folliculitis 10.5
29 woolly hair syndrome 10.5
30 craniosynostosis with fibular aplasia 10.3
31 coffin-lowry syndrome 10.3
32 retinoschisis 1, x-linked, juvenile 10.3
33 hypophosphatemic rickets, x-linked recessive 10.1
34 rickets 10.1
35 blepharitis 9.7 SAT1 MBTPS2
36 ectropion 9.6 SAT1 MBTPS2
37 hair disease 9.4 SAT1 MBTPS2

Graphical network of the top 20 diseases related to Keratosis Follicularis Spinulosa Decalvans:



Diseases related to Keratosis Follicularis Spinulosa Decalvans

Symptoms & Phenotypes for Keratosis Follicularis Spinulosa Decalvans

UMLS symptoms related to Keratosis Follicularis Spinulosa Decalvans:


photophobia

Drugs & Therapeutics for Keratosis Follicularis Spinulosa Decalvans

Search Clinical Trials , NIH Clinical Center for Keratosis Follicularis Spinulosa Decalvans

Genetic Tests for Keratosis Follicularis Spinulosa Decalvans

Anatomical Context for Keratosis Follicularis Spinulosa Decalvans

MalaCards organs/tissues related to Keratosis Follicularis Spinulosa Decalvans:

41
Skin, Neutrophil

Publications for Keratosis Follicularis Spinulosa Decalvans

Articles related to Keratosis Follicularis Spinulosa Decalvans:

(show top 50) (show all 72)
# Title Authors PMID Year
1
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2. 38 71
23316014 2013
2
Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. 38 71
20672378 2010
3
Keratosis follicularis spinulosa decalvans: report of a new pedigree. 38 71
8745901 1996
4
Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family. 38
29951998 2019
5
Successful Treatment of Keratosis Follicularis Spinulosa Decalvans With an 800-nm Diode Laser. 38
30893172 2019
6
A rare presentation of keratosis follicularis spinulosa decalvans in female twins. 38
28928337 2018
7
Mutilating Keratoderma with Concomitant Alopecia and Keratoses Follicularis Spinulosa Decalvans: X-Linked Olmsted Syndrome and its Response to Isotretinoin. 38
29204395 2017
8
Lichenoid folliculitis: A unifying concept. 38
28345255 2017
9
Keratosis Follicularis Spinulosa Decalvans with Associated Mental Retardation: Response to Isotretinoin. 38
28932071 2017
10
New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report. 38
28061825 2017
11
Primary cicatricial alopecia: Other lymphocytic primary cicatricial alopecias and neutrophilic and mixed primary cicatricial alopecias. 38
27846945 2016
12
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature. 38
27663151 2016
13
Keratosis follicularis spinulosa decalvans. 38
26765129 2016
14
Substance P in keratosis follicularis spinulosa decalvans. 38
27051769 2015
15
Keratosis follicularis spinulosa decalvans showing excellent response to isotretinoin. 38
26515859 2015
16
Keratosis Follicularis Spinulosa Decalvans: A Report of Three Cases. 38
26622157 2015
17
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2. 38
25683132 2015
18
Red face revisited: Disorders of hair growth and the pilosebaceous unit. 38
25441472 2014
19
Keratosis Follicularis Spinulosa Decalvans Associated wıth Leukonychia. 38
25781302 2014
20
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient. 38
24313295 2014
21
Keratosis follicularis spinulosa decalvans: a rare cause of scarring alopecia in two young Indian girls. 38
23960394 2013
22
MBTPS2 mutation in a British pedigree with keratosis follicularis spinulosa decalvans. 38
22816986 2012
23
Keratosis follicularis spinulosa decalvans in a female. 38
21508573 2011
24
Palmoplantar keratoderma in keratosis follicularis spinulosa decalvans. 38
20959277 2010
25
Keratosis follicularis spinulosa decalvans: case report. 38
20944916 2010
26
[Case for diagnosis]. 38
20098861 2009
27
Atrophoderma vermiculatum: a case report and review of the literature on keratosis pilaris atrophicans. 38
19326693 2009
28
Clinical and genetic heterogeneity in keratosis follicularis spinulosa decalvans. 38
18984066 2009
29
Spermidine/spermine-N(1)-acetyltransferase: a key metabolic regulator. 38
18349109 2008
30
Keratosis follicularis spinulosa decalvans in a family. 38
18280351 2008
31
Keratosis follicularis spinulosa decalvans associated with acne keloidalis nuchae and tufted hair folliculitis. 38
18284270 2008
32
[Keratosis follicularis spinulosa decalvans]. 38
17551700 2008
33
Diagnosis and management of primary cicatricial alopecia: part I. 38
18174797 2008
34
Familial keratosis follicularis spinulosa decalvans associated with woolly hair. 38
17651168 2007
35
Keratosis follicularis spinulosa decalvans and acne keloidalis nuchae. 38
16197427 2005
36
Systematic genome-wide approach to positional candidate cloning for identification of novel human disease genes. 38
15030454 2004
37
The molecular genetics of the corneal dystrophies--current status. 38
12700042 2003
38
Two brothers with keratosis follicularis spinulosa decalvans. 38
12399750 2002
39
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). 38
12215835 2002
40
Keratosis pilaris atrophicans in mother and daughter. 38
12224702 2002
41
Psychomotor retardation - an unusual association of keratosis follicularis spinulosa decalvans. 38
20877117 2000
42
[Keratosis follicularis spinulosa decalvans associated with patent ductus arteriosus and hypospadia in an Asiatic patient]. 38
10354925 1999
43
Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2. 38
9598732 1998
44
[Keratosis follicularis spinulosa decalvans]. 38
9522196 1998
45
Molecular genetic analysis of two families with keratosis follicularis spinulosa decalvans: refinement of gene localization and evidence for genetic heterogeneity. 38
9341865 1997
46
High-resolution mapping by YAC fragmentation of a 2.5-Mb Xp22 region containing the human RS, KFSD and CLS disease genes. 38
9195994 1997
47
Cicatricial alopecia and keratosis pilaris. Keratosis follicularis spinulosa decalvans. 38
9080901 1997
48
An Xp22.1-p22.2 YAC contig encompassing the disease loci for RS, KFSD, CLS, HYP and RP15: refined localization of RS. 38
8744027 1996
49
Refinement of the localisation of the X linked keratosis follicularis spinulosa decalvans (KFSD) gene in Xp22.13-p22.2. 38
8544196 1995
50
Keratosis follicularis spinulosa decalvans. 38
20952906 1995

Variations for Keratosis Follicularis Spinulosa Decalvans

Expression for Keratosis Follicularis Spinulosa Decalvans

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

Pathways for Keratosis Follicularis Spinulosa Decalvans

GO Terms for Keratosis Follicularis Spinulosa Decalvans

Biological processes related to Keratosis Follicularis Spinulosa Decalvans according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron projection development GO:0010977 8.62 PMP22 LRP1

Sources for Keratosis Follicularis Spinulosa Decalvans

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73 UMLS via Orphanet
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