MCID: ICH018
MIFTS: 13

Ichthyosis Linearis Circumflexa

Categories: Rare diseases

Aliases & Classifications for Ichthyosis Linearis Circumflexa

MalaCards integrated aliases for Ichthyosis Linearis Circumflexa:

Name: Ichthyosis Linearis Circumflexa 52 71

Classifications:



External Ids:

UMLS 71 C0265962

Summaries for Ichthyosis Linearis Circumflexa

MalaCards based summary : Ichthyosis Linearis Circumflexa is related to netherton syndrome and ichthyosis, and has symptoms including trichorrhexis invaginata An important gene associated with Ichthyosis Linearis Circumflexa is SPINK5 (Serine Peptidase Inhibitor Kazal Type 5). Affiliated tissues include skin.

Wikipedia : 74 Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and... more...

Related Diseases for Ichthyosis Linearis Circumflexa

Diseases related to Ichthyosis Linearis Circumflexa via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 10, show less)
# Related Disease Score Top Affiliating Genes
1 netherton syndrome 12.7
2 ichthyosis 11.2
3 ige responsiveness, atopic 10.6
4 pustulosis of palm and sole 10.6
5 psoriasis 10.6
6 autosomal recessive disease 10.4
7 dermatitis 10.4
8 aminoaciduria 10.4
9 dwarfism 10.4
10 erythrokeratoderma ''en cocardes'' 10.4

Graphical network of the top 20 diseases related to Ichthyosis Linearis Circumflexa:



Diseases related to Ichthyosis Linearis Circumflexa

Symptoms & Phenotypes for Ichthyosis Linearis Circumflexa

UMLS symptoms related to Ichthyosis Linearis Circumflexa:


trichorrhexis invaginata

Drugs & Therapeutics for Ichthyosis Linearis Circumflexa

Search Clinical Trials , NIH Clinical Center for Ichthyosis Linearis Circumflexa

Genetic Tests for Ichthyosis Linearis Circumflexa

Anatomical Context for Ichthyosis Linearis Circumflexa

MalaCards organs/tissues related to Ichthyosis Linearis Circumflexa:

40
Skin

Publications for Ichthyosis Linearis Circumflexa

Articles related to Ichthyosis Linearis Circumflexa:

(showing 69, show less)
# Title Authors PMID Year
1
Successful treatment of Netherton syndrome with ustekinumab in a 15-year-old girl. 61
31977080 2020
2
Two siblings affected by Netherton/Comèl syndrome. Diagnostic pathology and description of a new SPINK5 variant. 61
31450277 2019
3
Netherton syndrome previously misdiagnosed as hyper IgE syndrome caused by a probable mutation in SPINK5 C. 61
31990481 2019
4
Netherton Syndrome: A Case Report and Review of Literature. 61
30280066 2018
5
Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management. 61
28554884 2017
6
The Arid Melancholy-Netherton Syndrome With Protein Energy Malnutrition. 61
27190931 2016
7
ICHTHYOSIS LINEARIS CIRCUMFLEXA: NOT ALWAYS A PART OF NETHERTON SYNDROME. 61
30204963 2016
8
Ichthyosis linearis circumflexa in a child. Response to narrowband UVB therapy. 61
26848320 2015
9
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome. 61
25710899 2015
10
Trichoscopy as a diagnostic tool in trichorrhexis invaginata and Netherton syndrome. 61
25672309 2015
11
Netherton syndrome with ichthyosis linearis circumflexa and trichorrhexis invaginatum. 61
25526335 2014
12
Rapid and easy diagnosis of Netherton syndrome with dermoscopy. 61
25008447 2014
13
Netherton syndrome in one Chinese adult with a novel mutation in the SPINK5 gene and immunohistochemical studies of LEKTI. 61
22837558 2012
14
Ichthyosis linearis circumflexa. 61
21220804 2010
15
Tacrolimus in dermatology-pharmacokinetics, mechanism of action, drug interactions, dosages, and side effects: part I. 61
18174798 2008
16
Netherton's syndrome: the importance of eyebrow hair. 61
18328215 2007
17
Netherton syndrome: successful use of topical tacrolimus and pimecrolimus in four siblings. 61
17343588 2007
18
[Netherton syndrome]. 61
16956571 2006
19
A Japanese infant with localized ichthyosis linearis circumflexa on the palms and soles harbouring a compound heterozygous mutation in the SPINK5 gene. 61
16120162 2005
20
Netherton syndrome: report of two Taiwanese siblings with staphylococcal scalded skin syndrome and mutation of SPINK5. 61
15656819 2005
21
Successful treatment of Netherton's syndrome with topical calcipotriol. 61
15197002 2004
22
A compound heterozygous mutation of the SPINK5 gene in a Taiwanese boy with Netherton syndrome. 61
12923596 2003
23
Ichthyosis: etiology, diagnosis, and management. 61
12553849 2003
24
[Netherton's syndrome in two sisters]. 61
12085559 2002
25
Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families. 61
11841556 2002
26
Topical tacrolimus Protopic. 61
12532181 2002
27
A case of Netherton's syndrome with cerebral infarction. 61
11592518 2001
28
Clearance of ichthyosis linearis circumflexa with balneophototherapy. 61
11305383 2000
29
A case of ichthyosis linearis circumflexa successfully treated with topical tacrolimus. 61
10688732 2000
30
[The syndrome of Comel-Netherton (trichorrhexis invaginata, ichthyosis linearis circumflexa and atopic eczema)]. 61
10094660 1998
31
[Comèl-Netherton syndrome]. 61
9675580 1998
32
Ichthyosis linearis circumflexa. 61
20948134 1996
33
Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. 61
8806118 1996
34
Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. 61
7822652 1995
35
A clinical and immunological study of Netherton's syndrome. 61
7999590 1994
36
Serum parathyroid hormone level is elevated in some patients with disorders of keratinization. 61
1320849 1992
37
[Successful retinoid therapy of Netherton syndrome]. 61
2527214 1989
38
Netherton's Syndrome. 61
28128111 1989
39
Netherton's syndrome: ultrastructure of the active lesion under retinoid therapy. 61
2528332 1989
40
Ichtryosis Linearis Circumflexa. 61
28145378 1987
41
[Ichthyosis linearis circumflexa. Description of a case]. 61
3623623 1987
42
[Ichthyosis linearis circumflexa. Description of 2 clinical cases]. 61
3110055 1987
43
Retinoids in disorders of keratinization: their use in adults. 61
2961628 1987
44
[Netherton syndrome]. 61
3550314 1986
45
Ichthyosis linearis circumflexa: morphological and biochemical studies. 61
2579669 1985
46
[Comèl's ichthyosis linearis circumflexa: treatment with Ro 10-9359. Electron microscopic study]. 61
4076500 1985
47
Successful therapy of ichthyosis linearis circumflexa with PUVA. 61
6863655 1983
48
[Netherton syndrome: weakened immunity, generalized verrucosis and carcinogenesis]. 61
7451148 1980
49
Ichthyosis linearis circumflexa [proceedings]. 61
7387896 1980
50
Ichthyosis linearis circumflexa. 61
479434 1979
51
Ichthyosis linearis circumflexa Comèl and Netherton's syndrome; an ultrastructural study. 61
467759 1979
52
Explorations of antimitotic agents in the treatment of a congenital disease, ichthyosis linearis circumflexa. 61
439902 1979
53
[Comel's linear circumflex ichthyosis and Netherton's syndrome. General conceptions based on study of 4 cases (author's transl)]. 61
348004 1978
54
[Netherton-Comel's syndrome]. 61
384113 1978
55
Netherton's syndrome: an electronmicroscopic study. 61
1242624 1975
56
Ichthyosis linearis circumflexa comèl with trichorrhexis invaginata (Netherton's syndrome). A light microscopical study of the skin changes. 61
4480415 1974
57
Ichthyosis linearis circumflexa comèl. A clinico-statistical approach to its relationship with Netherton's syndrome. 61
4480416 1974
58
Ichthyosis linearis circumflexa and Netherton's syndrome with idiopathic dwarfism. 61
4800202 1973
59
Netherton's disease and ichthyosis linearis circumflexa. Report of a case and review of the literature. 61
4115884 1972
60
Ichthyosis linearis circumflexa Comèl with Trichorrhexis invaginata (Netherton's Syndrom): an ultrastructural study of the skin changes. 61
4678924 1972
61
Netherton's syndrome and ichthyosis linearis circumflexa. 61
5467454 1970
62
Neterton's syndrome and ichthyosis linearis circumflexa. 61
4242601 1969
63
Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa. 61
5359904 1969
64
Netherton's disease and ichthyosis linearis circumflexa. 61
5797972 1969
65
[On ichthyosis linearis circumflexa]. 61
4229374 1966
66
[CONTRIBUTION TO THE PATHOGENESIS OF ICHTHYOSIS LINEARIS CIRCUMFLEXA (COM'EL)]. 61
14154347 1963
67
[Ichthyosis linearis circumflexa with sub-corneum blisters]. 61
13886446 1961
68
[An additional case of ichthyosis linearis circumflexa]. 61
13610148 1958
69
[Ichthyosis linearis circumflexa]. 61
13375996 1956

Variations for Ichthyosis Linearis Circumflexa

Expression for Ichthyosis Linearis Circumflexa

Search GEO for disease gene expression data for Ichthyosis Linearis Circumflexa.

Pathways for Ichthyosis Linearis Circumflexa

GO Terms for Ichthyosis Linearis Circumflexa

Sources for Ichthyosis Linearis Circumflexa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....