KWE
MCID: KRT013
MIFTS: 46

Keratolytic Winter Erythema (KWE)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Keratolytic Winter Erythema

MalaCards integrated aliases for Keratolytic Winter Erythema:

Name: Keratolytic Winter Erythema 56 74 52 58 73 29 13 71
Kwe 56 52 73
Erythrokeratolysis Hiemalis 58 73
Oudtshoorn Skin Disease 56 73
Erythrokeratolysis Hiemalis Ichthyosis 52
Oudtshoorn Disease 58
Oudtshoorn Skin 52
Erythema 43

Characteristics:

Orphanet epidemiological data:

58
keratolytic winter erythema
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset from infancy to early adulthood
triggered by exposure to water and moist conditions
exacerbated by cold weather (in some patients)
intrafamilial severity and course highly variable
amelioration in adulthood (in some patients)


HPO:

31
keratolytic winter erythema:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM 56 148370
MeSH 43 D004890
ICD10 32 L54 L54.8
MESH via Orphanet 44 C536155
UMLS via Orphanet 72 C0406756
Orphanet 58 ORPHA50943
MedGen 41 C0406756
UMLS 71 C0406756

Summaries for Keratolytic Winter Erythema

UniProtKB/Swiss-Prot : 73 Keratolytic winter erythema: An autosomal dominant genodermatosis characterized by recurrent episodes of palmoplantar erythema and epidermal peeling presenting seasonal variation. KWE manifests during childhood. Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin can appear unremarkable. Itching can occur, and hyperhidrosis, associated with a pungent odor, is invariably present. Formation of vesicles is rare, whereas keratolysis that causes the formation of dry blisters is regularly seen. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family.

MalaCards based summary : Keratolytic Winter Erythema, also known as kwe, is related to erythema multiforme and erythema elevatum diutinum. An important gene associated with Keratolytic Winter Erythema is CTSB (Cathepsin B). The drugs Docosanol and Ciclopirox have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and testes, and related phenotypes are erythema and hyperhidrosis

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 50943 Definition Keratolytic winter erythema is a rare epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Keratolytic winter erythema follows an autosomal dominant mode of transmission. Visit the Orphanet disease page for more resources.

OMIM : 56 Keratolytic winter erythema, also known as Oudtshoorn skin disease, manifests during childhood with recurrent episodes of palmoplantar erythema and centrifugal epidermal peeling. Lateral and dorsal aspects of the hands and feet can be involved. A less common finding is a slowly migratory, annular erythema that is seen mostly on the extremities. Between flares, the skin may appear unremarkable. Hyperhidrosis, associated with a pungent odor, is invariably present, and itching can occur. Peeling is preceded by the formation of dry blisters due to keratolysis, whereas formation of vesicles or bullae is rare. Cold weather, moisture, febrile diseases, and physical and mental stress can trigger exacerbations. In severely affected individuals, skin manifestations persist unremittingly. Penetrance of the disease is high, but expressivity is variable, even within the same family (summary by Ngcungcu et al., 2017). (148370)

Wikipedia : 74 Keratolytic Winter erythema (also known as Oudtshoorn disease or Oudtshoorn skin) is a rare autosomal... more...

Related Diseases for Keratolytic Winter Erythema

Diseases related to Keratolytic Winter Erythema via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1095)
# Related Disease Score Top Affiliating Genes
1 erythema multiforme 12.9
2 erythema elevatum diutinum 12.7
3 erythema infectiosum 12.7
4 epidermolysis bullosa simplex with migratory circinate erythema 12.6
5 zinc-responsive necrolytic acral erythema 12.6
6 erythema palmare hereditarium 12.5
7 erythema nodosum, idiopathic 12.5
8 erythema multiforme major 12.4
9 annular erythema 12.4
10 erythema nodosum, familial 12.4
11 erythema of acral regions 12.3
12 erythrokeratodermia variabilis et progressiva 1 12.0
13 proteasome-associated autoinflammatory syndrome 1 11.9
14 severe cutaneous adverse reaction 11.8
15 nakajo syndrome 11.7
16 lyme disease 11.7
17 bloom syndrome 11.7
18 kawasaki disease 11.7
19 geographic tongue 11.6
20 glucagonoma 11.6
21 epidermolytic hyperkeratosis 11.6
22 familial cold autoinflammatory syndrome 3 11.6
23 pityriasis rubra pilaris 11.5
24 rheumatic fever 11.5
25 vibratory urticaria 11.5
26 leprosy 3 11.5
27 mastocytosis, cutaneous 11.4
28 sarcoidosis 1 11.4
29 bullous pemphigoid 11.4
30 crohn's disease 11.4
31 pustular psoriasis 11.3
32 hereditary angioedema 11.3
33 pulmonary sarcoidosis 11.3
34 irritant dermatitis 11.3
35 seborrheic dermatitis 11.3
36 haverhill fever 11.3
37 ritter's disease 11.3
38 erythrokeratodermia variabilis et progressiva 5 11.3
39 hidradenitis 11.3
40 orbital cellulitis 11.3
41 mammary paget's disease 11.3
42 frontal fibrosing alopecia 11.3
43 behcet syndrome 11.3
44 benign chronic pemphigus 11.3
45 protoporphyria, erythropoietic, 1 11.3
46 autosomal recessive congenital ichthyosis 11.3
47 hidradenitis suppurativa 11.3
48 mal de meleda 11.2
49 peeling skin syndrome 1 11.2
50 ichthyosis, congenital, autosomal recessive 8 11.2

Graphical network of the top 20 diseases related to Keratolytic Winter Erythema:



Diseases related to Keratolytic Winter Erythema

Symptoms & Phenotypes for Keratolytic Winter Erythema

Human phenotypes related to Keratolytic Winter Erythema:

58 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0010783
2 hyperhidrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000975
3 pustule 58 31 occasional (7.5%) Occasional (29-5%) HP:0200039
4 palmoplantar hyperhidrosis 31 HP:0007410

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
hyperhidrosis of palms and soles
cyclical centrifugal peeling of skin (palmoplantar surfaces)
erythematous base under peeling skin
superficial dry blisters
well-demarcated erythematous border (in some patients)
more
Skin Nails Hair Skin Electron Microscopy:
greatly expanded intercellular spaces
free-floating desmosomes
intracristal swelling with denser matrix in keratinocyte mitochondria
perinuclear electron-lucid vacuoles

Skin Nails Hair Skin Histology:
focal areas of mild spongiosis that spread centrifugally
compact parakeratotic layer under stratum corneum
proliferation of basal keratinocytes, forming new strata granulosa and corneum
split occurs above newly regenerated orthokeratotic stratum corneum

Clinical features from OMIM:

148370

Drugs & Therapeutics for Keratolytic Winter Erythema

Drugs for Keratolytic Winter Erythema (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 543)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Docosanol Approved, Investigational Phase 4 661-19-8, 30303-65-2 12620
2
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
3
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
4
Cefuroxime Approved Phase 4 55268-75-2 5479529 5361202
5
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
6
Penicillin V Approved, Vet_approved Phase 4 87-08-1 6869
7
Azelaic acid Approved Phase 4 123-99-9 2266
8
Phylloquinone Approved, Investigational Phase 4 84-80-0
9
Metronidazole Approved Phase 4 443-48-1 4173
10
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
11
Petrolatum Approved, Investigational Phase 4 8009-03-8
12
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
13
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
14
Adapalene Approved Phase 4 106685-40-9 60164
15
Benzoyl peroxide Approved Phase 4 94-36-0 7187
16
Levocetirizine Approved Phase 4 130018-77-8 1549000
17
Clofazimine Approved, Investigational Phase 4 2030-63-9 2794
18
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
19
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
20
Benzyl alcohol Approved Phase 4 100-51-6 244
21
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
22
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
23
Ceftaroline fosamil Approved, Investigational Phase 4 229016-73-3
24
Capsaicin Approved Phase 4 404-86-4 1548943
25
Sulfamethoxazole Approved Phase 4 723-46-6 5329
26
Simethicone Approved Phase 4 8050-81-5
27
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
28
Rabeprazole Approved, Investigational Phase 4 117976-89-3 5029
29
Heparin Approved, Investigational Phase 4 9005-49-6 46507594 772
30
Enoxaparin Approved Phase 4 9005-49-6 772
31
Nadroparin Approved, Investigational Phase 4
32
Fexofenadine Approved, Investigational Phase 4 83799-24-0 3348
33
Triclosan Approved, Investigational Phase 4 3380-34-5 5564
34
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
35
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
36
Primaquine Approved Phase 4 90-34-6 4908
37
Methimazole Approved Phase 4 60-56-0 1349907
38
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
39
Propranolol Approved, Investigational Phase 4 525-66-6 4946
40
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
41
Bezafibrate Approved, Investigational Phase 4 41859-67-0 39042
42
Pseudoephedrine Approved Phase 4 90-82-4 7028
43
Ephedrine Approved Phase 4 299-42-3 9294
44
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
45
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
46
Aminolevulinic acid Approved Phase 4 106-60-5 137
47
Allantoin Approved Phase 4 97-59-6 204
48
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
49
Tofacitinib Approved, Investigational Phase 4 477600-75-2
50
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674

Interventional clinical trials:

(show top 50) (show all 766)
# Name Status NCT ID Phase Drugs
1 The Safety, Efficacy and Convenience of Use of the Natural Agent "Superlysin Gel" as Treatment for Herpes Labialis in Comparison to Acyclovir 5% and Docozanole 10%. Unknown status NCT00467662 Phase 4 Acyclovir 5%;Docosanol 10%
2 Open Label Study of Prednisone and Azithromycin in the Treatment of Patients With Cat Scratch Disease Unknown status NCT01469702 Phase 4 prednison and azithromycin;prednison, azithromycin;prednison, Azenil
3 A MULTICENTRE RANDOMIZED CONTROLLED CLINICAL TRIAL ON THE EFFICACY OF TEGADERM CHG IN REDUCING CATHETER RELATED BLOOD STREAM INFECTIONS Unknown status NCT01142934 Phase 4
4 A Randomized Study on the Effects of Lactobacillus Brevis CD2 in the Prevention of Radio and Chemotherapy Induced Oral Mucositis in Head and Neck Cancer Patients. Unknown status NCT01707641 Phase 4
5 Efficacy of Combined Fractional Carbon Dioxide Laser and Topical Tazarotene in the Treatment of Psoriatic: Nail Disease a Single-blind, Intrapatient Left-to-right Controlled Study. Unknown status NCT03263624 Phase 4 Tazarotene Cream 0.1%
6 Clinical, Laboratorial and Quality of Life Trial to Evaluate the Efficacy and Safety of Low-dose Oral Isotretinoin for Seborrhea. Unknown status NCT01139749 Phase 4 oral isotretinoin;salicylic acid and ciclopirox olamine
7 Treatment of Superficial Basal Cell Carcinoma by Topical Photodynamic Therapy With Fractionated 5-aminolevulinic Acid 20% Versus Two Stage Topical Photodynamic Therapy With Methylaminolevulinate Unknown status NCT01491711 Phase 4 Methylaminolevulinate PDT in 2 sessions;Fractionated 5-aminolevulinic acid hydrochloride 20% gel PDT
8 Randomized Control Trial of Vancomycin Powder Following Posterior Instrumented Spinal Surgery for Trauma Unknown status NCT01977989 Phase 4 Vancomycin Powder
9 Evaluating Immunogenicity and Safety Effect on Combined Immune Effect of EV71 Inactivated Vaccine and HepB、MPSV-A、MR、JE-L:A Multi-center Randomized Controlled Trial Unknown status NCT03519568 Phase 4
10 The Role of Qutenza (Topical Capsaicin 8%) in Treating Neuropathic Pain From Critical Ischaemia in Patients With End-stage Renal Failure Unknown status NCT01704339 Phase 4 QUTENZA
11 MIRVASO® In Use Study: Managing Rosacea Through Assessment and Control of Its Erythema (The MIRACLE Study) Completed NCT02249065 Phase 4 Brimonidine
12 Tick Borne Diseases in Norwegian General Practice. A Randomized, Controlled Trial for Treatment of Erythema Migrans in Norwegian General Practice. A Comparison of Phenoxymethylpenicillin, Amoxicillin and Doxycycline. Completed NCT01368341 Phase 4 Doxycycline;Phenoxymethylpenicillin;Amoxicillin
13 A Multicenter, Open-label Clinical Trial to Evaluate the Efficacy and Safety of Once Daily Mirvaso® Gel (5 mg/g Brimonidine Tartrate) in Patients With Chronic Persistent Vascular Facial Erythema. Completed NCT02856919 Phase 4 brimonidine tartrate
14 Narrow-Band UVB-Therapy in Psoriasis: Randomised Double-Blind Comparison of Erythematogenic and Suberythematogenic Irradiation Regimens Completed NCT00748020 Phase 4
15 Effects of VITAmin K in Lessening Erythema Grade Associated to Injection Site Reactions in Patients Treated With PlegridY (VITALITY) Completed NCT03091569 Phase 4
16 Risk Factors for Failure of Erythema Migrans Treatment - Comparison of Doxycycline and Cefuroxime Axetil for Treatment of Adult Patients With Erythema Migrans: Clinical and Microbiological Outcome. Completed NCT01518192 Phase 4 doxycycline;cefuroxime axetil
17 An Exploratory, Multicenter, Investigator-blinded, Active-controlled Study to Investigate the Efficacy of Topical Azelaic Acid (AzA)15% Gel Twice Daily or Metronidazole Topical Gel 1% Once Daily, Plus Anti-inflammatory Dose Doxycycline (40mg) Once Daily in Subjects With Moderate Papulopustular Rosacea Completed NCT00855595 Phase 4 Azelaic acid (Finacea, BAY39-6251);Metronidazole (Metrogel);Doxycycline (Oracea)
18 Finacea 15% and Brimonidine 0.33% Gel in the Treatment of Rosacea - A Pilot Study Completed NCT02147691 Phase 4 Azelaic acid 15%;Brimonidine 0.33%
19 A One Week, Double-Blind, Adaptive, Randomized, Multicenter Study to Compare the Efficacy, Safety and Tolerability of Topical Diclofenac Gel Versus Placebo in Patients With Superficial Thrombophlebitis Completed NCT00377806 Phase 4 Diclofenac gel
20 Evaluation of the Safety and Efficacy of the Product Bepantol® Derma Spray After the Dermatological Procedure in the Face - 21 Days of Follow-up. Completed NCT03853538 Phase 4 BAY207543 (Bepanthol, Bepantol® Derma Spray)
21 Internet Surveys and Their Impact on Adherence and Quality of Life to Mirvaso for Rosacea Completed NCT03048058 Phase 4 brimonidine topical gel 0.33% & survey;brimonidine topical gel 0.33% & SOC
22 Multicenter, Open-Label, Interventional Study on the Safety and Tolerability of Oxymetazoline and Energy-Based Therapy in Subjects With Rosacea Completed NCT03380390 Phase 4 Oxymetazoline HCL 1.0% Cream
23 Split-face Tolerability Comparison Between Epiduo® (Adapalene and Benzoyl Peroxide) Gel 0.1%/2.5% Versus Retin-A Micro® (Tretinoin Gel) Microsphere, 0.1% in Subjects With Acne Vulgaris Completed NCT01522456 Phase 4 Epiduo Gel;Retin-A Micro Microsphere 0.1%
24 A Double-blinded, Placebo-controlled Study to Evaluate the Tolerability and Efficacy of Enstilar® (Calcipotriene and Betamethasone Dipropionate) Foam in the Treatment of Chronic Plaque Psoriasis in Patients With Skin of Color Completed NCT03506477 Phase 4 Enstilar® foam;Vehicle foam
25 A Multicenter, Randomized Study Comparing CUBICIN® (Daptomycin for Injection) With Vancomycin in the Treatment of Cellulitis or Erysipelas Completed NCT00295178 Phase 4 Daptomycin;Vancomycin
26 Topical Brimonidine Reduces IPL-induced Erythema Without Affecting Efficacy: a Randomized Controlled Trial in Patients With Facial Telangiectasias Completed NCT02761174 Phase 4 Brimonidine
27 Evaluation of Daptomycin for the Emergency Department Treatment of Complicated Skin and Skin Structure Infections Completed NCT01549613 Phase 4 Daptomycin;Vancomycin
28 Split-face Study of Changing in Skin Physiology and Clinical Appearance After Microdroplet Placement of Stabilized Hyaluronic Acid in Aging Faces Completed NCT02312154 Phase 4
29 20- Versus 23- Gauge System for Pars Plana Vitrectomy: A Prospective Randomized Clinical Study Completed NCT00411970 Phase 4
30 Effect of Additional Clofazimine on ENL Reactions in Leprosy Completed NCT01290744 Phase 4 Clofazimine;Placebo
31 A Controlled Comparative Study of the Efficacy of SARNA Sensitive Lotion for Treatment of Uremic Pruritus in Adult Hemodialysis Patients Completed NCT00693654 Phase 4 Sarna;Cetaphil
32 A Double Blind Randomized Trial, Placebo-controled of 0.0003% Calcitriol Ointment Versus 0.1% Tacrolimus Ointment in the Treatment of Pityriasis Alba Completed NCT01388517 Phase 4 Tacrolimus;Calcitriol;Petrolatum
33 U0289-402: An Open Label, 8 Week Study to Evaluate the Efficacy and Tolerability of MAXCLARITY II in Subjects With Acne Completed NCT01706263 Phase 4 MAXCLARITY II (2.5% BPO) Foam Cleanser;MAXCLARITY II (2.5% BPO) Foam Treatment;MAXCLARITY II (0.5% Salicylic Acid) Toner Foam
34 Clinical and Economic Outcomes of Ceftaroline Fosamil for the Treatment of Acute Bacterial Skin and Skin Structure Infections Documented or at Risk of Methicillin-Resistant S. Aureus Completed NCT02582203 Phase 4 Ceftaroline;Vancomycin
35 A Double Blinded Randomized Controlled Trial for the Management of Pediatric Community Acquired Skin Abscesses - To Treat or Not to Treat With Antibiotics Completed NCT00679302 Phase 4 Trimethoprim-sulfamethoxazole;Placebo group
36 Phase 4 Study of Proactive Treatment of Tacrolimus Ointment for Adult Facial Seborrheic Dermatitis Completed NCT01591070 Phase 4 Tacrolimus;Tacrolimus
37 Skin and Soft Tissue Infection (SSTI) Study Completed NCT02600871 Phase 4 Provodine
38 Ketoconazole Foam 2% for the Treatment of Versicolor Completed NCT00830388 Phase 4 Ketoconazole 2% Foam
39 A Phase 4, Single-Blind, Randomized, Study to Compare the Tolerability and Efficacy of Tazorac Cream When Used in Combination With Either Duac Gel or Acanya Gel for the Treatment of Facial Acne Vulgaris Completed NCT01016977 Phase 4 Clindamycin 1%/Benzoyl Peroxide 5% and 0.1% tazarotene;clindamycin phosphate 1.2%/benzoyl peroxide 2.5% and 0.1% tazarotene
40 Two-week Study to Determine and Compare the Tolerance and Irritation Potential of Duac® Topical Gel (Clindamycin 1% and Benzoyl Peroxide 5%) to ACANYA™ Gel (Clindamycin Phosphate 1.2% and Benzoyl Peroxide 2.5%) Topical Acne Medications Completed NCT01015638 Phase 4 Clindamycin and BPO 5% gel;Clindamycin phosphate and benzoyl peroxide 2.5% gel.
41 Pilot Study of Tolerability and Effectivity Following Application of Two Combination Topical Acne Products Clindamycin 1% and 0.025% Tretinoin Gel (Acnatac® Gel), Adapalen 0,1% and Benzoyl Peroxide 2,5% Gel (Epiduo® Gel) Completed NCT02731105 Phase 4 Acnatac® Gel left face;Epiduo® Gel right face;Acnatac® Gel right face;Epiduo® Gel left face
42 A PHASE 4, OPEN-LABEL STUDY TO ASSESS THE LONG-TERM SAFETY OF EXTINA (KETOCONAZOLE) FOAM, 2% IN THE TREATMENT OF SEBORRHEIC DERMATITIS Completed NCT00703846 Phase 4 Ketoconazole
43 A Pharmacokinetic Study to Compare the Systemic Exposure to Adapalene During Dermal Application of Either Differin® Gel, 0.3% (Adapalene 0.3%) or Differin® Gel, 0.1% (Adapalene 0.1%) for 30 Days in Subjects With Acne Vulgaris Completed NCT00660985 Phase 4 Adapalene;Adapalene
44 A Phase IV, Randomised, Double-blind Study Comparing the Local Tolerability of Two Subcutaneous Heparins, Fraxiparine and Clexane, in Healthy Volunteers. Completed NCT03841396 Phase 4 Sodium chloride
45 U0289-404: An Evaluator Blinded, 8 Week, Split Face Study to Evaluate and Compare the Efficacy and Tolerability of MAXCLARITYII and MURAD in Subjects With Acne Completed NCT02524665 Phase 4
46 U0289-401: An Evaluator Blinded, 8 Week, Split-Face Study to Evaluate and Compare the Efficacy and Tolerability of MAXCLARITY II and PROACTIV in Subjects With Acne Completed NCT01706250 Phase 4
47 A Randomized, Evaluator-blinded, Bilateral Comparison of the Treatment of Facial Actinic Keratoses Using Combination Microneedling and Photodynamic Therapy With Aminolevulinic Acid and Blue Light Versus Photodynamic Therapy With Aminolevulinic Acid and Blue Light Using Two Different Incubation Times Completed NCT02622594 Phase 4 Aminolevulinic Acid (ALA)
48 Autologous Cell Suspension Grafting Using ReCell in Vitiligo and Piebaldism Patients: a Randomized Controlled Study on the Recipient Site Preparation Completed NCT02458417 Phase 4
49 A Randomized, Multi-Dose, Placebo-Controlled Pain Relief Study of 0.25% 920-CGS-200 in Subjects With Preexisting Knee Pain (for at Least 6 Months) Caused by Osteoarthritis (OA) Completed NCT03124407 Phase 4 Capsaicin Topical Solution
50 Do Laryngeal Biopsy Findings Predict Treatment Response in Suspected Laryngopharyngeal Reflux Completed NCT00444145 Phase 4 Prevacid

Search NIH Clinical Center for Keratolytic Winter Erythema

Cochrane evidence based reviews: erythema

Genetic Tests for Keratolytic Winter Erythema

Genetic tests related to Keratolytic Winter Erythema:

# Genetic test Affiliating Genes
1 Keratolytic Winter Erythema 29 CTSB

Anatomical Context for Keratolytic Winter Erythema

MalaCards organs/tissues related to Keratolytic Winter Erythema:

40
Skin, Breast, Testes, Bone, Eye, Colon, Prostate

Publications for Keratolytic Winter Erythema

Articles related to Keratolytic Winter Erythema:

(show all 16)
# Title Authors PMID Year
1
Duplicated Enhancer Region Increases Expression of CTSB and Segregates with Keratolytic Winter Erythema in South African and Norwegian Families. 61 56
28457472 2017
2
The elusive gene for keratolytic winter erythema. 56 61
24300638 2013
3
Genetic heterogeneity in keratolytic winter erythema (Oudtshoorn skin disease). 61 56
16924068 2006
4
Physical and transcriptional map of the critical region for keratolytic winter erythema (KWE) on chromosome 8p22-p23 between D8S550 and D8S1759. 61 56
11896452 2002
5
Localization of the gene causing keratolytic winter erythema to chromosome 8p22-p23, and evidence for a founder effect in South African Afrikaans-speakers. 61 56
9311742 1997
6
[Erythrokeratolysis hiemalis. Erythematosquamous genetic dermatosis with seasonal manifestation]. 61 56
7822203 1994
7
Keratolytic winter erythema or 'oudtshoorn skin': a newly recognized inherited dermatosis prevalent in South Africa. 61 56
607500 1977
8
Keratolytic Winter Erythema: An Update. 61
31700853 2019
9
[Familial keratolytic winter erythema: A cathepsin at the controls]. 61
28756884 2017
10
Exclusion of CTSB and FDFT1 as positional and functional candidate genes for keratolytic winter erythema (KWE). 61
21945151 2012
11
Photodynamic therapy for the treatment of keratolytic winter erythema. 61
20738319 2011
12
Exclusion of ferrochelatase gene mutations in patients with seasonal palmoplantar keratoderma. 61
19656459 2009
13
Keratolytic winter erythema with facial involvement: a novel presentation. 61
19018790 2009
14
Erythrokeratolysis hiemalis (keratolytic winter erythema): a case report from Denmark. 61
11683293 2001
15
Inherited disorders in the Afrikaner population of southern Africa. Part II. Skeletal, dermal and haematological conditions; the Afrikaners of Gamkaskloof; demographic considerations. 61
6414096 1983
16
Erythrokeratolysis hiemalis--keratolytic winter erythema or 'Oudtshoorn Skin'. A new epidermal genodermatosis with its histological features. 61
656323 1978

Variations for Keratolytic Winter Erythema

ClinVar genetic disease variations for Keratolytic Winter Erythema:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FECH NM_000140.4(FECH):c.315-48T>CSNV Pathogenic/Likely pathogenic 562 rs2272783 18:55238820-55238820 18:57571588-57571588
2 FECH NM_001012515.3(FECH):c.68-23C>TSNV Benign 550 rs2269219 18:55247454-55247454 18:57580222-57580222

Expression for Keratolytic Winter Erythema

Search GEO for disease gene expression data for Keratolytic Winter Erythema.

Pathways for Keratolytic Winter Erythema

GO Terms for Keratolytic Winter Erythema

Sources for Keratolytic Winter Erythema

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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