KWE
MCID: KRT013
MIFTS: 45

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 57 73 20 58 72 29 13 70
Kwe 57 20 72
Erythrokeratolysis Hiemalis 58 72
Oudtshoorn Skin Disease 57 72
Erythrokeratolysis Hiemalis Ichthyosis 20
Oudtshoorn Disease 58
Oudtshoorn Skin 20
Erythema 44

Characteristics:

Orphanet epidemiological data:

58
keratolytic winter erythema
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
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® 57 148370
MeSH 44 D004890
ICD10 32 L54 L54.8
MESH via Orphanet 45 C536155
UMLS via Orphanet 71 C0406756
Orphanet 58 ORPHA50943
MedGen 41 C0406756
UMLS 70 C0406756

Summaries for Keratolytic Winter Erythema

UniProtKB/Swiss-Prot : 72 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 nodosum. An important gene associated with Keratolytic Winter Erythema is CTSB (Cathepsin B). The drugs Aminolevulinic acid and Betamethasone have been mentioned in the context of this disorder. Affiliated tissues include skin, breast and bone, and related phenotypes are erythema and hyperhidrosis

GARD : 20 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.

OMIM® : 57 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) (Updated 20-May-2021)

Wikipedia : 73 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 1100)
# Related Disease Score Top Affiliating Genes
1 erythema multiforme 11.8
2 erythema nodosum 11.6
3 erythema elevatum diutinum 11.5
4 epidermolysis bullosa simplex with migratory circinate erythema 11.5
5 erythema infectiosum 11.5
6 erythema nodosum, idiopathic 11.4
7 erythema multiforme major 11.3
8 erythema palmare hereditarium 11.3
9 zinc-responsive necrolytic acral erythema 11.3
10 erythrokeratodermia variabilis et progressiva 1 11.3
11 lyme disease 11.3
12 annular erythema 11.2
13 erythema nodosum, familial 11.2
14 proteasome-associated autoinflammatory syndrome 1 11.2
15 kawasaki disease 11.2
16 nakajo syndrome 11.2
17 bloom syndrome 11.1
18 glucagonoma 11.1
19 severe cutaneous adverse reaction 11.1
20 epidermolytic hyperkeratosis 11.1
21 geographic tongue 11.1
22 ichthyosis, lamellar, autosomal dominant 11.0
23 mal de meleda 11.0
24 leprosy 3 11.0
25 pityriasis rubra pilaris 11.0
26 familial cold autoinflammatory syndrome 3 11.0
27 sarcoidosis 1 11.0
28 peeling skin syndrome 1 11.0
29 ichthyosis, congenital, autosomal recessive 8 11.0
30 peeling skin syndrome 5 11.0
31 erythrokeratodermia variabilis et progressiva 3 11.0
32 rheumatic fever 11.0
33 vibratory urticaria 10.9
34 mastocytosis, cutaneous 10.9
35 pemphigoid 10.9
36 ichthyosis bullosa of siemens 10.9
37 atrophoderma vermiculata 10.9
38 ichthyosis, congenital, autosomal recessive 2 10.9
39 ichthyosis, congenital, autosomal recessive 1 10.9
40 sjogren-larsson syndrome 10.9
41 hypotrichosis 8 10.9
42 ichthyosis, congenital, autosomal recessive 4a 10.9
43 ichthyosis, congenital, autosomal recessive 11 10.9
44 ectodermal dysplasia/skin fragility syndrome 10.9
45 ichthyosis, congenital, autosomal recessive 5 10.9
46 ichthyosis, congenital, autosomal recessive 3 10.9
47 hypotrichosis 6 10.9
48 ichthyosis, congenital, autosomal recessive 6 10.9
49 inflammatory skin and bowel disease, neonatal, 1 10.9
50 ichthyosis, congenital, autosomal recessive 7 10.9

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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Keratolytic Winter Erythema

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

(show top 50) (show all 227)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aminolevulinic acid Approved Phase 4 106-60-5 137
2
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
3
Cefuroxime Approved Phase 4 55268-75-2 5361202 5479529
4
Vitamin K1 Approved, Investigational Phase 4 84-80-0 5284607
5
Penicillin V Approved, Vet_approved Phase 4 87-08-1 6869
6
Apremilast Approved, Investigational Phase 4 608141-41-9 11561674
7
Thalidomide Approved, Investigational, Withdrawn Phase 4 50-35-1 5426
8
Petrolatum Approved, Investigational Phase 4 8009-03-8
9
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
10
Dinoprost Approved, Investigational Phase 4 551-11-1 5283078
11
Dinoprost tromethamine Approved, Vet_approved Phase 4 38562-01-5 5282415
12
Travoprost Approved Phase 4 157283-68-6 5282226
13
Phenylephrine Approved Phase 4 59-42-7 6041
14
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
15
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
16 Menaquinone Investigational Phase 4 1182-68-9
17 Photosensitizing Agents Phase 4
18 Methyl 5-aminolevulinate Phase 4
19 Dermatologic Agents Phase 4
20 Immunosuppressive Agents Phase 4
21 Anti-Inflammatory Agents Phase 4
22 Micronutrients Phase 4
23 Trace Elements Phase 4
24 Nutrients Phase 4
25 Vitamins Phase 4
26 Betamethasone benzoate Phase 4
27 Betamethasone-17,21-dipropionate Phase 4
28 Betamethasone sodium phosphate Phase 4
29 Calcipotriene Phase 4
30 Betamethasone Valerate Phase 4 2152-44-5
31 Respiratory System Agents Phase 4
32 cefuroxime axetil Phase 4
33 penicillins Phase 4
34 Hormones Phase 4
35 Vitamin K Phase 4
36 naphthoquinone Phase 4
37 Hormone Antagonists Phase 4
38 glucocorticoids Phase 4
39 Angiogenesis Inhibitors Phase 4
40 Anti-Asthmatic Agents Phase 4
41 Emollients Phase 4
42
tannic acid Approved Phase 3 1401-55-4
43
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
44
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
45
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
46
Ephedrine Approved Phase 3 299-42-3 9294
47
Pseudoephedrine Approved Phase 3 90-82-4 7028
48
Azelaic acid Approved Phase 3 123-99-9 2266
49
Diclofenac Approved, Vet_approved Phase 3 15307-86-5 3033
50
Histamine Approved, Investigational Phase 3 51-45-6, 75614-87-8 774

Interventional clinical trials:

(show top 50) (show all 170)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Narrow-Band UVB-Therapy in Psoriasis: Randomised Double-Blind Comparison of Erythematogenic and Suberythematogenic Irradiation Regimens Completed NCT00748020 Phase 4
4 Effects of VITAmin K in Lessening Erythema Grade Associated to Injection Site Reactions in Patients Treated With PlegridY (VITALITY) Completed NCT03091569 Phase 4
5 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
6 A Pilot Study to Evaluate the Efficacy and Safety of Apremilast in Patients of Chronic and Recurrent Erythema Nodosum Leprosum Completed NCT04822909 Phase 4 Apremilast;Apremilast;Apremilast 10 MG; 20 MG; 30 MG Oral Tablet
7 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
8 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)
9 Topical Brimonidine Reduces IPL-induced Erythema Without Affecting Efficacy: a Randomized Controlled Trial in Patients With Facial Telangiectasias Completed NCT02761174 Phase 4 Brimonidine
10 MIRVASO® In Use Study: Managing Rosacea Through Assessment and Control of Its Erythema (The MIRACLE Study) Completed NCT02249065 Phase 4 Brimonidine
11 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
12 The Effect of Enstilar Versus Vehicle on Target Lesions in Moderate Plaque Type Psoriasis Patients Completed NCT03848871 Phase 4 Enstilar
13 Subject Reported Target-lesion Numeric Rating Scale Evaluation by Subjects With Plaque Psoriasis Treated With Clobex® (Clobetasol Propionate) Spray 0.05% Completed NCT01893567 Phase 4 Clobex Spray
14 Safety And Efficacy Of Topical Prostaglandin F2α Analogs In Combination With Fractional CO2 Laser And 308 Excimer Light In Treatment Of Vitiligo Not yet recruiting NCT04577027 Phase 4 Topical travoprost 0.004% solution
15 Single Center, Randomized, Open Label Study in Relapsing MS Patients on PLEGRIDY to Assess Topical Application of Preparation H (Phenylephrine) on Mitigation of Erythema Severity and Size. Terminated NCT02665221 Phase 4 Topical Preparation H arm
16 Brimonidine Tartrate for the Treatment of Injection Related Erythema Associated With Sub-cutaneous Administration of Peginterferon Beta-1a (BRITE) Withdrawn NCT02568111 Phase 4 peginterferon beta-1a;brimonidine tartrate;Vehicle Gel
17 Evaluation of the Reduction in Erythema by Oxymetazoline Hydrochloride Topical Cream, 1% in Adults With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT03352323 Phase 3 Oxymetazoline
18 A Multicenter, Randomized, Controlled, Double-masked, Crossover Design Study to Compare Efficacy and Assess Safety of CD07805/47 Gel 0.5% Applied Once Daily vs Azelaic Acid Gel 15% Applied Twice Daily in Subjects With Erythema of Rosacea Completed NCT01659853 Phase 3 CD07805/47 gel 0.5%/CD07805/47 Vehicle;azelaic acid gel 15%
19 Safety and Efficacy of Oxymetazoline HCl Cream 1.0% in Patients With Persistent Erythema Associated With Rosacea Completed NCT02132117 Phase 3 Oxymetazoline HCL Cream 1.0%;Vehicle to Oxymetazoline HCL Cream
20 A Long-term Safety and Efficacy Study of Oxymetazoline HCl Cream 1.0% in Patients With Persistent Erythema Associated With Rosacea Completed NCT02095158 Phase 3 Oxymetazoline HCL Cream 1.0%
21 Efficacy and Safety of AGN-199201 in Patients With Persistent Erythema Associated With Rosacea Completed NCT02131636 Phase 3 AGN-199201;Vehicle to AGN-199201
22 A Multicenter, Open-Label Study to Evaluate the Long-Term Safety and Efficacy of CD07805/47 Gel 0.5% Applied Topically Once Daily for up to 52 Weeks in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01318733 Phase 3 CD07805/47 gel 0.5%
23 A Multicenter, Randomized Double-Blind, Vehicle-Controlled, Parallel Group Study to Demonstrate the Efficacy and Safety of CD07805/47 Gel Applied Topically Once Daily in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01355471 Phase 3 CD07805/47 Gel;Placebo
24 A Multicenter, Randomized Double-Blind, Vehicle-Controlled, Parallel Group Study to Demonstrate the Efficacy and Safety of CD07805/47 Gel Applied Topically Once Daily in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01355458 Phase 3 CD07805/47 gel;Placebo
25 Comparative Safety and Efficacy of Two Rosacea Products in the Treatment of Facial Erythema of Rosacea Completed NCT02385240 Phase 3 Brimonidine Topical Gel, 0.33 percent (Perrigo);Brimonidine Topical Gel, 0.33 percent (Reference);Placebo gel
26 A Randomized, Double-Blind, Multiple-Site, Placebo-Controlled, Parallel-Design Study to Evaluate the Safety and Therapeutic Equivalence of Brimonidine Topical Gel, 0.33% (Watson Laboratories, Inc., USA) to Reference Product Mirvaso® (Brimonidine) Topical Gel, 0.33% (Galderma Laboratories, L.P., USA) in Patients With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT02289352 Phase 3 Brimonidine;placebo
27 Patient-Reported Outcome Of Facial Erythema (PROOF) Completed NCT01885000 Phase 3 once-daily brimonidine tartrate 0.5% gel;once-daily brimonidine tartrate vehicle gel
28 A Randomized, Double-Blind, Vehicle-Controlled, Single Center, Intra-Individual Comparative Study of the Efficacy and Safety of Diclofenac Sodium 1 mg/g (0.1%) Gel in Subjects With Painful UV-Induced Erythema Completed NCT00441051 Phase 3 Diclofenac sodium 1mg/g
29 Phase 3 Efficacy and Safety Study of CD07805/47 Topical Gel in Subjects With Facial Erythema of Rosacea Completed NCT01789775 Phase 3 Drug: CD07805/47 gel;CD07805/47 gel Placebo
30 A Randomized, Double Blind, Parallel Group, Three Arm, Placebo Controlled, Multi-Site Therapeutic Equivalence Study With Clinical End-points Comparing Test Product "Oxymetazoline Hydrochloride Cream, 1%" to Reference Product "RHOFADETM Cream, 1%" in the Treatment of Moderate to Severe Persistent Facial Erythema of Rosacea Completed NCT03954444 Phase 3 Oxymetazoline Hydrochloride;Rhofade Cream, 1%;Placebo
31 A Multicenter, Randomized, Double Blind, Active Controlled, Parallel Group, Clinical Study, to Evaluate the Safety and Efficacy of Apitox vs Histamine in Subjects With Refractory Osteoarthritis Pain and Inflammation of the Knee Completed NCT01112722 Phase 3
32 HT201309- Human Photoallergy Test Completed NCT04532164 Phase 3 Butenafine HCl 1% (BAY1896425) - Induction Phase;Butenafine HCl 1% (BAY1896425) - Challenge Phase
33 A Single-Center, Double-Masked, Randomized, Vehicle-Controlled, Parallel-Group Study Evaluating the Efficacy and Safety of Brimonidine Tartrate Ophthalmic Solution 0.025% Used Four Times Daily in a Population of Adult and Geriatric Subjects With Ocular Redness Completed NCT01959230 Phase 3 Brimonidine Tartrate;Vehicle;Sodium Fluorescein;Fluorescein Sodium and Benoximate Hydrocholoride Ophthalmic Solution USP
34 Mepitel Film vs Standard of Care for the Radiotherapy Prevention and Cutaneous Toxicity in Patients With Post-surgery Breast Cancer Recruiting NCT02741258 Phase 3 skin cream
35 Povidone-iodine vs. Chlorhexidine Gluconate - A Comparison of Surgical Preparations and Wound Infection Rates for Elective Cesarean Sections Terminated NCT00528008 Phase 3
36 A Randomized, Open-Label Phase III Trial to Evaluate the Efficacy and Safety of Bexarotene (Targretin) Capsules Combined With PUVA, Compared to PUVA Treatment Alone in Patients With Mycosis Fungoides Terminated NCT00056056 Phase 3 bexarotene;methoxypsoralen
37 Phase 3 Efficacy and Safety Study of CD07805/47 Topical Gel in Subjects With Persistent Facial Erythema Withdrawn NCT01882712 Phase 3 CD07805/47 Gel 0.5%;CD07805/47 Gel Placebo
38 ASIS for Enbrel in Plaque Psoriasis Unknown status NCT02112097 Phase 1, Phase 2 Gadolinium;Gadolinium;Gadolinium;Efficacy of Enbrel subcutaneously at Week 12;Efficacy of Enbrel subcutaneously at Week 24;Efficacy of Enbrel subcutaneously at Week 36;Efficacy of Enbrel subdermally at Week 12;Efficacy of Enbrel subdermally at Week 24;Efficacy of Enbrel subdermally at Week 36;PASI 75 n(%) subcutaneously at Week 12;PASI 75 n(%) subcutaneously at Week 24;PASI 75 n(%) subcutaneously at Week 36;PASI 75 n(%) subdermally at Week 12;PASI 75 n(%) subdermally at Week 24;PASI 75 n(%) subdermally at Week 36;Adverse Reactions of Enbrel subcutaneously;Adverse Reactions of Enbrel subdermally at Week 36;Gadolinium;Gadolinium;Gadolinium
39 Effects of PRK 124 (0.125%) Lotion in Acne Rosacea Completed NCT00580723 Phase 1, Phase 2
40 Evaluation of the Effect of Bepanthen Burn Relief Foam Spray New Formula on a Thermic Erythema. Equivalence Trial. Intra-individual Design. Completed NCT00839462 Phase 2 Dexpanthenol foam spray, new formulation;Dexpanthenol foam spray, old formulation
41 AGN-199201 for the Treatment of Erythema With Rosacea Completed NCT01735201 Phase 2 AGN-199201 Dose A;AGN-199201 Dose B;AGN-199201 Dose C;AGN-199201 Vehicle
42 A 4-week, Randomized, Double-blind, Parallel-group, Vehicle-controlled, Multicenter Study Investigating the Efficacy and Safety of CD07805/47 Gel 0.5% Applied Topically Once Daily (QD), and CD07805/47 Gel 0.18% Applied Topically Once Daily (QD) or Twice Daily (BID), in Subjects With Moderate to Severe Facial Erythema Associated With Rosacea Completed NCT01174030 Phase 2 CD07805/47 Gel;Vehicle Gel;CD07805/47 Gel;CD07805/47 Gel;Vehicle Gel
43 An Analysis of the Effect of Topical Cromolyn Sodium on Rosacea-associated Erythema Completed NCT01933464 Phase 1, Phase 2 Cromolyn Sodium;Normal Saline
44 Pilot Phase I/II Study of the Treatment of Classic Central Serous Chorioretinopathy With Topical Interferon Gamma-1b Completed NCT01468337 Phase 1, Phase 2 Interferon gamma-1b
45 A Pilot Double Blind Controlled Study Randomizing Patients Whose ENL is Not Controlled With Standard Prednisolone, and Comparing a Group Treated With Ciclosporin to a Group Treated With Additional Steroid Only. Completed NCT00919776 Phase 2 prednisolone;ciclosporin
46 A Pilot (Double Blind Controlled) Study Randomizing Patients With New Acute ENL to Treatment Either With Ciclosporin or Prednisolone. Completed NCT00919542 Phase 2 Ciclosporin;prednisolone
47 Phase 2 Multi Center Prospective Rand. Double Blind Placebo Cont. Parallel Design Study to Evaluate Safety & Efficacy of Topical Sirolimus for Cutaneous Angiofibromas in Subjects W/ Tuberous Sclerosis Complex Followed by Opt. Open Label Recruiting NCT03363763 Phase 2 Sirolimus 0.2%;Sirolimus 0.4%;Placebo ointment
48 A Single Center, Open Label Pilot Study to Evaluate the Safety and Efficacy of CC-11050 in Nepalese Patients With Erythema Nodosum Leprosum Recruiting NCT03807362 Phase 2 CC-11050
49 A Randomized Phase II Study of Neoadjuvant Carboplatin/Paclitaxel (CT) Versus Panitumumab/Carboplatin/Paclitaxel (PaCT) Followed by Anthracycline-Containing Regimen for Newly Diagnosed Primary Triple-Negative Inflammatory Breast Cancer Recruiting NCT02876107 Phase 2 Carboplatin;Paclitaxel
50 A Phase II Study of Anti-PD-1 (MK-3475) Therapy in Patients With Metastatic Inflammatory Breast Cancer (IBC) or Non-IBC Triple Negative Breast Cancer (TNBC) Who Have Achieved Clinical Response or Stable Disease to Prior Chemotherapy Recruiting NCT02411656 Phase 2

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, Bone, Lung, Liver, Myeloid, Bone Marrow

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 57
28457472 2017
2
The elusive gene for keratolytic winter erythema. 61 57
24300638 2013
3
Genetic heterogeneity in keratolytic winter erythema (Oudtshoorn skin disease). 61 57
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 57
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. 57 61
9311742 1997
6
[Erythrokeratolysis hiemalis. Erythematosquamous genetic dermatosis with seasonal manifestation]. 61 57
7822203 1994
7
Keratolytic winter erythema or 'oudtshoorn skin': a newly recognized inherited dermatosis prevalent in South Africa. 57 61
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 Position
1 FECH NM_000140.4(FECH):c.315-48T>C SNV Uncertain significance 562 rs2272783 GRCh37: 18:55238820-55238820
GRCh38: 18:57571588-57571588
2 FECH NM_001012515.3(FECH):c.68-23C>T SNV Likely benign 550 rs2269219 GRCh37: 18:55247454-55247454
GRCh38: 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....