MCID: KYR001
MIFTS: 23

Kyrle Disease

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Kyrle Disease

MalaCards integrated aliases for Kyrle Disease:

Name: Kyrle Disease 56 52 71
Hyperkeratosis Follicularis Et Parafollicularis in Cutem Penetrans 52
Kyrle's Disease 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
kyrle disease:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 149500
MedGen 41 C0263382
UMLS 71 C0263382

Summaries for Kyrle Disease

NIH Rare Diseases : 52 Kyrle disease is rare condition that affects the skin. People with this condition generally develop large papules with central keratin (a protein found in the skin, hair and nails) plugs throughout their body. These lesions are typically not painful but may cause severe itching. Although it can affect both men and women throughout life, the average age of onset is 30 years. The cause of the disease is currently unknown; however, it is often associated with certain conditions such as diabetes mellitus , kidney disease , liver abnormalities, and congestive heart failure . In some families, the condition appears to be inherited but an underlying genetic cause has not been identified. Treatment aims to address the associated signs and symptoms and any additional disease that may be present. Lesions often heal spontaneously but new ones continue to develop.

MalaCards based summary : Kyrle Disease, also known as hyperkeratosis follicularis et parafollicularis in cutem penetrans, is related to darier-white disease and hyperkeratosis lenticularis perstans. Affiliated tissues include skin, kidney and liver, and related phenotypes are abnormality of the skin and posterior subcapsular cataract

Wikipedia : 74 Kyrle disease is identified as a form of an acquired perforating disease. Other major perforating... more...

More information from OMIM: 149500

Related Diseases for Kyrle Disease

Graphical network of the top 20 diseases related to Kyrle Disease:



Diseases related to Kyrle Disease

Symptoms & Phenotypes for Kyrle Disease

Human phenotypes related to Kyrle Disease:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the skin 31 HP:0000951
2 posterior subcapsular cataract 31 HP:0007787

Symptoms via clinical synopsis from OMIM:

56
Skin:
follicular keratosis

Eyes:
posterior subcapsular cataracts in some cases

Clinical features from OMIM:

149500

Drugs & Therapeutics for Kyrle Disease

Search Clinical Trials , NIH Clinical Center for Kyrle Disease

Genetic Tests for Kyrle Disease

Anatomical Context for Kyrle Disease

MalaCards organs/tissues related to Kyrle Disease:

40
Skin, Kidney, Liver, Heart, Testes

Publications for Kyrle Disease

Articles related to Kyrle Disease:

(show top 50) (show all 139)
# Title Authors PMID Year
1
Ocular findings in a kindred with Kyrle disease. Hyperkeratosis follicularis et parafollicularis in cutem penetrans. 61 56
4746641 1973
2
The treatment of Kyrle's disease: a systematic review. 61
31919924 2020
3
The novel use of mu-opioid receptor antagonism for the treatment of refractory pruritus in Kyrle's disease. 61
31909165 2019
4
A Case of Kyrle's Disease with Dermatoscopic Findings. 61
30258817 2018
5
Kyrle's disease effectively treated with oral isotretinoin. 61
29285959 2018
6
Kyrle's disease associated with HIV infection, diabetes, and chronic kidney disease. 61
30004069 2018
7
Kyrle's disease. 61
29040735 2018
8
Kyrle's disease: a cutaneous manifestation of diabetes mellitus. 61
29092963 2017
9
Successful treatment of Kyrle disease with narrowband ultraviolet B. 61
27451031 2017
10
Efficacy of topical tacrolimus for treating Kyrle's disease. 61
27988969 2017
11
Dermoscopy of Kyrle disease. 61
27543245 2016
12
Acquired perforating dermatosis in a patient with chronic renal failure. 61
28300880 2016
13
Kyrle's Disease: A Rare Skin Manifestation of Diabetes Mellitus. 61
27759352 2016
14
Kyrle's Disease in a Patient with Delusions of Parasitosis. 61
27141573 2016
15
A Case of Infantile Kyrle-Flegel Disease in a 6-Year-Old Yemeni Girl. 61
26933407 2016
16
Kyrle Disease A Rare Dermatologic Condition Associated with the Diabetic Foot. 61
26429617 2015
17
Kyrle's Disease Presenting in an Extensive Distribution along Lines of Blaschko. 61
26288452 2015
18
Kyrle's disease in a patient of diabetes mellitus and chronic renal failure on dialysis. 61
25949985 2015
19
A clinicopathologic study of thirty cases of acquired perforating dermatosis in Korea. 61
24882969 2014
20
Kyrle's disease. 61
24429045 2014
21
Squamous cell carcinoma developed on Kyrle's disease scar. 61
24659683 2014
22
Clinicopathological features of 25 patients with acquired perforating dermatosis. 61
24446068 2013
23
Kyrle's disease. 61
24350034 2013
24
Perforating disorders of the skin. 61
24441221 2013
25
[Reactive perforating collagenosis]. 61
22721482 2012
26
A prospective study of cutaneous abnormalities in patients with chronic kidney disease. 61
22787313 2012
27
Cutaneous manifestations in patients with chronic kidney disease on maintenance hemodialysis. 61
22830039 2012
28
Kyrle disease and acquired perforating collagenosis secondary to chronic renal failure and diabetes mellitus. 61
22087093 2011
29
Kyrle's disease successfully treated with allopurinol. 61
22126887 2011
30
Challenging the schemes: acantholytic (Darier's disease-like) Kyrle's disease. 61
19614997 2009
31
Rare presentation of Kyrle's disease in siblings. 61
19881995 2008
32
Verrucous tuberculid mimicking Kyrle disease. 61
18173528 2007
33
Regression of skin lesions of Kyrle's disease with metronidazole in a diabetic patient. 61
17905437 2007
34
Familial Kyrle's disease: a case report. 61
17614815 2007
35
Acquired perforating dermatosis: clinicopathological features in twenty-two cases. 61
16836495 2006
36
Cutaneous manifestations in patients with chronic renal failure on hemodialysis. 61
16707817 2006
37
Regression of skin lesions of Kyrle's disease with clindamycin: implications for an infectious component in the etiology of the disease. 61
15907549 2005
38
Perforating disorder caused by salt-water application and its experimental induction. 61
15807728 2005
39
Expression of the 67-kDa elastin receptor in perforating skin disorders. 61
11841369 2002
40
[Kyrle's disease]. 61
12037938 2002
41
Ocular changes in a case of Kyrle's disease. 20-year follow-up. 61
11037920 2000
42
[Hyperkeratosis follicularis et parafollicularis in cutem penetrans (Kyrle's disease). Description of a case]. 61
10902431 2000
43
[Acquired reactive perforating collagenosis in diabetes mellitus]. 61
10191822 1999
44
[Acquired reactive perforating dermatosis. Successful treatment with allopurinol in 2 cases]. 61
10097954 1999
45
Kyrle's disease in diabetes mellitus and chronic renal failure. 61
9731978 1998
46
Kyrle's disease and vitamin D resistant rickets in chronic renal failure (le). 61
20921750 1998
47
Fibronectin and the extracellular matrix in the perforating disorders of the skin. 61
9557783 1998
48
Kyrle's disease : a cutaneous marker of renal disorder. 61
20948059 1996
49
Pyomyositis in a renal transplant patient with Kyrle's disease. 61
8856270 1996
50
Kyrle's disease. 61
20953035 1995

Variations for Kyrle Disease

Expression for Kyrle Disease

Search GEO for disease gene expression data for Kyrle Disease.

Pathways for Kyrle Disease

GO Terms for Kyrle Disease

Sources for Kyrle Disease

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
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