MetaADEDB 2.0 @ LMMD
Hyperkeratosis, Epidermolytic
(UMLS:C0079153)
Definition:
A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.
UMLS ID:
C0079153
MeSH ID:
D017488
Classification 1:
Name:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):
C16.131.831.512.400.375|C16.320.850.400.375|C16.614.492.400.375
Classification 2:
Name:
Skin and Connective Tissue Diseases
MeSH Tree Number(s):
C17.800.428.333.250.375|C17.800.804.512.400.375|C17.800.827.400.375
Synonym(s)
1.
Hyperkeratosis, Epidermolytic
2.
BIE - Bullous ichthyosiform erythroderma
3.
Bullous congenital ichthyosiform erythroderma
4.
Bullous ichthyosiform erythroderma
5.
Bullous ichthyosis
6.
Congenital bullous ichthyosiform erythroderma
7.
Congenital ichthyosiform erythroderma, bullous
8.
Dominant ichthyosis vulgaris
9.
EPIDERMOLYTIC HYPERKERATOSIS
10.
Epidermolytic Hyperkeratosis
11.
Epidermolytic hyperkeratosis
12.
Epidermolytic palmoplantar hyperkeratosis
13.
Hyperkeratosis, epidermolytic
14.
epidermolytic hyperkeratosis
Associated Drug(s)
NameNumber of ReportsReference(s)Data Source
1Arsenicals17050553CTD
Similar ADE(s)
NameSemantic Similarity
1Ichthyosis, X-Linked44.4%
2Epidermolysis Bullosa42.7%
3Sjogren-Larsson Syndrome40.6%
4Ectodermal Dysplasia39.6%
5Aplasia Cutis Congenita39.6%
6Xeroderma Pigmentosum39.5%
7Porokeratosis34.8%
8Keratoderma, Palmoplantar34.8%
9Pseudoxanthoma Elasticum33.8%
10Dermatitis, Atopic32.7%
11Acrodermatitis29.4%
12Gianotti-Crosti Syndrome29.4%
13Cutis Laxa27.8%
14Pyoderma Gangrenosum25.9%
15Albinism25.5%
16Lupus Erythematosus, Cutaneous23%
17Panniculitis23%
18Systemic Scleroderma23%
19Morphea23%
20Papillon-Lefevre Disease21.9%
21Porphyrias, Hepatic20.5%
22Nail-Patella Syndrome20.4%
23Breast Diseases19.5%
24Dermatitis19.5%
25Exanthema19.5%
26Facial Dermatoses19.5%
27Hair Diseases19.5%
28Hand Dermatoses19.5%
29keratoacanthoma19.5%
30Nail Diseases19.5%
31Photosensitivity Disorders19.5%
32Prurigo19.5%
33Pyoderma19.5%
34Rosacea19.5%
35Sebaceous Gland Diseases19.5%
36Skin Diseases, Vesiculobullous19.5%
37Skin Ulcer19.5%
38Sweat Gland Diseases19.5%
39Skin Diseases, Papulosquamous19.5%
40Skin Diseases, Vascular19.5%
41Acneiform Eruptions19.5%
42Ocular Rosacea19.5%
43Subcorneal pustular dermatosis19.5%
44Erythematotelangiectatic Rosacea19.5%
45Papulopustular Rosacea19.5%
46Chronic Actinic Dermatitis19.5%
47Acne Vulgaris19.4%
48Contact Dermatitis19.4%
49Eczema19.4%
50Erythema Multiforme19.4%
51Intertrigo19.4%
52Neurodermatitis19.4%
53Rhinophyma19.4%
54Perioral Dermatitis19.4%
55Acne19.4%
56Dermatomyositis18.3%
57Foot Diseases17.5%
58Dermatitis Herpetiformis17.4%
59Sebaceous Gland Neoplasms17.3%
60Skin Diseases, Infectious17.2%
61Skin Neoplasms17.2%
62Pigmentation Disorders17.2%
63Necrobiosis Lipoidica Diabeticorum17.2%
64Lipomatosis17.1%
65Pruritus17.1%
66Erythema17.1%
67Necrolytic Migratory Erythema17.1%
68Cutaneous Fistula17.1%
69Nephrogenic Fibrosing Dermopathy17.1%
70Nephrogenic Systemic Fibrosis17.1%
71Panniculitis, Lupus Erythematosus16.8%
72Aicardi's syndrome16.7%
73Behcet Syndrome16.7%
74Erythema Induratum16.5%
75Cystic Fibrosis16.4%
76Dermatitis, Phototoxic16%
77Pityriasis Lichenoides et Varioliformis Acuta16%
78Pityriasis Lichenoides16%
79Phototoxicity16%
80Xeroderma15.9%
81Skin Abnormalities15.8%
82Foot Ulcer15.7%
83Cholesteatoma15.6%
84Parakeratosis15.6%
85Marfan Syndrome15.3%
86Mastocytosis15.2%
87Beckwith-Wiedemann Syndrome15%
88Wolf-Hirschhorn Syndrome15%
89Holoprosencephaly14.6%
90Dermatitis, Photoallergic14.4%
91Urticaria Pigmentosa13.9%
92Actinic keratosis13.8%
93CHARGE Syndrome13.8%
94Smith-Magenis syndrome13.6%
95Cri-du-Chat Syndrome13.5%
96Down Syndrome13.5%
97Trisomy 2113.5%
98Keratosis13.2%
99Variegate Porphyria13%
100Acute intermittent porphyria13%
101Porphyria Cutanea Tarda13%
102Lupus Erythematosus, Discoid12.9%
103Scleroderma, Limited12.9%
104Erythema Infectiosum12.7%
105Exanthema Subitum12.7%
106Erythema Nodosum12.6%
107Rubinstein-Taybi Syndrome12.5%
108Menkes Kinky Hair Syndrome12.5%
109Kartagener Syndrome12.4%
110Mobius Syndrome12.4%
111Connective Tissue Diseases12.3%
112Prader-Willi Syndrome12.2%
113Toxic Epidermal Necrolysis12.1%
114Stevens-Johnson Syndrome12.1%
115Dermatitis, Irritant12%
116Acne Conglobata12%
117Meconium Aspiration Syndrome11.8%
118Osteogenesis Imperfecta11.8%
119Cockayne Syndrome11.5%
120Ecthyma11.5%
121Abdominal Cramps11.4%
122Amniotic Band Syndrome11.4%
123Asphyxia Neonatorum11.4%
124Infant, Premature, Diseases11.4%
125Infantile Colic11.4%
126Angioedemas, Hereditary11.3%
127Tinea Capitis11.1%
128Onychomycosis11.1%
129Fetal Diseases11.1%
130Anhidrosis11%
131Pressure Ulcer11%
132Folliculitis11%
133Foot Dermatoses11%
134Gynecomastia11%
135Hypertrichosis11%
136Hypohidrosis11%
137Hypotrichosis11%
138Leg Ulcer11%
139Miliaria11%
140Parapsoriasis11%
141Pityriasis11%
142Psoriasis11%
143Sweet Syndrome11%
144Hidradenitis11%
145Onycholysis11%
146Miliaria Rubra11%
147Hyperpigmentation11%
148Lichenoid Eruptions11%
149Chloracne11%
150Dermatitis, Occupational11%
151Abnormalities, Drug-Induced10.9%
152Situs Inversus10.9%
153Alstrom Syndrome10.9%
154Fragile X Syndrome10.8%
155Dermatitis, Allergic Contact10.7%
156Granuloma Annulare10.4%
157Neoplastic Syndromes, Hereditary10.2%
158Anemia, Neonatal10%
159Multiple Epiphyseal Dysplasia10%
160Osteochondrodysplasias10%
161Pelger-Huet Anomaly10%
162Persistent Fetal Circulation Syndrome10%
163Werner Syndrome10%
164Myasthenic Syndromes, Congenital10%
165Umbilical hernia9.9%
166Eye Abnormalities9.8%
167Cardiovascular Abnormalities9.8%
168Acantholysis9.8%
169Breast Cyst9.8%
170Pemphigoid, Benign Mucous Membrane9.8%
171Pemphigus9.8%
172Piedra9.8%
173Sunburn9.8%
174Argyria9.7%
175Hirsutism9.7%
176Lactation Disorder9.7%
177Mastitis9.7%
178Urticaria9.7%
179Adiposis Dolorosa9.7%
180Pruritus Vulvae9.7%
181Erythema Chronicum Migrans9.7%
182Lymphatic Abnormalities9.7%
183Congenital Microtia9.7%
184Mastocytoma9.6%
185Pruritus Ani9.6%
186Congenital diaphragmatic hernia9.5%
187Anemia, Sickle Cell9.4%
188Thalassemia9.4%
189Muscular Dystrophy, Duchenne9.4%
190Dwarfism9.1%
191Hyperkeratosis, Epidermolytic9.1%
192Polycystic Kidney Diseases9%
193Williams Syndrome9%
194Neonatal Abstinence Syndrome9%
195Muscular Dystrophy8.9%
196Congenital nystagmus8.9%
197Toxoplasmosis, Congenital8.8%
198Hidradenitis Suppurativa8.8%
199Syphilis, Congenital8.8%
200Urogenital Abnormalities8.8%
201Smith-Lemli-Opitz Syndrome8.7%
202Dermatomycoses8.7%
203Mucocutaneous Lymph Node Syndrome8.7%
204Skin Diseases, Bacterial8.7%
205Mucopolysaccharidosis II8.7%
206Drug Eruptions8.6%
207Lipodystrophy8.6%
208Livedo Reticularis8.6%
209Malignant Atrophic Papulosis8.6%
210Polyarteritis Nodosa8.6%
211Takayasu Arteritis8.6%
212Deformity8.5%
213Retinal Dysplasia8.4%
214Noonan Syndrome8.4%
215Aniridia8.4%
216Diaper Rash8.4%
217Genetic Diseases, Inborn8.3%
218Kallmann Syndrome8.2%
219Autoimmune Lymphoproliferative Syndrome8.1%
220Congenital Hyperinsulinism8%
221Anencephaly7.9%
222Wiskott-Aldrich Syndrome7.8%
223Primary Ciliary Dyskinesia7.8%
224Tuberous Sclerosis7.7%
225Homocystinuria7.6%
226Mycetoma7.4%
227Tinea Pedis7.4%
228Peutz-Jeghers Syndrome7.4%
229Myotonic Dystrophy7.2%
230Maxillofacial Abnormalities7.2%
231Dural Arteriovenous Fistula7.2%
232Dextrocardia7.1%
233Refsum Disease7%
234Abnormalities, Radiation-Induced7%
235Lichen Planus6.9%
236Melanosis6.9%
237Chloasma6.9%
238Pityriasis Rosea6.9%
239Pityriasis Rubra Pilaris6.9%
240Vitiligo6.9%
241Lichen Nitidus6.9%
242Rett Syndrome6.8%
243Familial Mediterranean Fever6.7%
244Ophthalmia Neonatorum6.6%
245Zellweger Syndrome6.6%
246Adrenoleukodystrophy6.6%
247Collagen Diseases6.5%
248Mixed Connective Tissue Disease6.5%
249Mucinoses6.5%
250Laryngomalacia6.5%
251Pectus carinatum6.4%
252Hepatolenticular Degeneration6.4%
253Neuronal Ceroid-Lipofuscinoses6.3%
254Prune Belly Syndrome6.2%
255Twins, Conjoined6.2%
256Waardenburg Syndrome6.2%
257Ataxia Telangiectasia6.2%
258Alopecia6.1%
259Sweating, Gustatory6.1%
260Androgenetic Alopecia6.1%
261Auriculotemporal Syndrome6.1%
262Sickle Cell Trait6.1%
263Scimitar Syndrome6.1%
264Basal Cell Nevus Syndrome6.1%
265Lice Infestations6%
266Varicose Ulcer6%
267Breast Neoplasms, Male6%
268Triple Negative Breast Neoplasms6%
269Galactorrhea6%
270Giant Cell Arteritis6%
271Temporal Arteritis6%
272Amyloid Neuropathies, Familial5.9%
273Paralysis, Obstetric5.9%
274Retinopathy of Prematurity5.9%
275Classical Lissencephalies and Subcortical Band Heterotopias5.9%
276Amino Acid Metabolism, Inborn Errors5.9%
277Carbohydrate Metabolism, Inborn Errors5.9%
278Metal Metabolism, Inborn Errors5.9%
279Progeria5.9%
280Lysosomal Storage Diseases5.9%
281Cytochrome-c Oxidase Deficiency5.9%
282Peroxisomal Disorders5.9%
283Cartilage Diseases5.8%
284Rheumatism5.8%
285Chondromalacia5.8%
286Bronchopulmonary Dysplasia5.8%
287Polycystic Kidney, Autosomal Dominant5.8%
288Lupus Erythematosus, Systemic5.7%
289Overlap syndrome5.7%
290Turner Syndrome5.7%
291Fabry Disease5.6%
292Mucopolysaccharidosis III5.5%
293Anophthalmos5.5%
294Anus, Imperforate5.5%
295Hydranencephaly5.5%
296Microphthalmos5.5%
297Neural Tube Defects5.5%
298Tethered Cord Syndrome5.5%
299Iniencephaly5.5%
300Craniorachischisis5.5%
301Limb Deformities, Congenital5.5%
302Exencephaly5.5%
303Septo-Optic Dysplasia5.5%
304Craniofacial Abnormalities5.5%
305Cortical Dysplasia5.5%
306Malformations of Cortical Development5.5%
307Anorectal Malformations5.5%
308Bloom Syndrome5.5%
309Larva Migrans5.4%
310Leishmaniasis5.4%
311Molluscum Contagiosum5.4%
312Angioedema5.4%
313Onchocerciasis5.4%
314Chromoblastomycosis5.4%
315Dermatophytosis5.4%
316Sporotrichosis5.4%
317Tinea5.4%
318Tinea Versicolor5.4%
319Trichophytosis5.4%
320Hyalohyphomycosis5.4%
321CREST Syndrome5.4%
322Acute Generalized Exanthematous Pustulosis5.3%
323Respiratory Distress Syndrome, Newborn5.3%
324Charcot-Marie-Tooth Disease5.3%
325Fetal Growth Retardation5.3%
326Antley-Bixler Syndrome Phenotype5.3%
327Retinitis Pigmentosa5.2%
328Fetal Hypoxia5.2%
329Fetal Alcohol Spectrum Disorders5.2%
330Pigmentary retinopathy5.2%
331Chronic granulomatous disease5.2%
332Welander Distal Myopathy5.2%
333Acute Chest Syndrome5.2%
334Galactosemias5.1%
335Urea Cycle Disorders, Inborn5.1%
336Tyrosinemias5.1%
337Dupuytren Contracture5%
338Craniosynostosis5%
339Syndactyly5%
340Brachycephaly5%
341Canavan Disease4.9%
342Alexander Disease4.9%
343Blepharophimosis4.9%
344Laryngostenosis4.9%
345Mouth Abnormalities4.9%
346Warts4.9%
347Esophageal Atresia4.9%
348Intestinal Atresia4.9%
349Horseshoe Kidney4.9%
350Pectus excavatum4.9%
351Klippel-Feil Syndrome4.9%
352Gastroschisis4.9%
353Synostosis4.9%
354Lymphangiectasis, Intestinal4.9%
355Candidiasis, Chronic Mucocutaneous4.8%
356Cutaneous Candidiasis4.8%
357Erysipelas4.8%
358Serum Sickness4.8%
359Staphylococcal Skin Infections4.8%
360Erythrasma4.8%
361Carcinoma, Lobular4.8%
362Arthritis, Psoriatic4.8%
363Acanthosis Nigricans4.8%
364Alopecia Areata4.8%
365Lentigo4.8%
366Acrocephalosyndactylia4.8%
367Duane Retraction Syndrome4.8%
368Glycogen storage disease type II4.8%
369Chorioamnionitis4.7%
370Optic Atrophy, Hereditary, Leber4.7%
371Myotonia Congenita4.7%
372Thrombasthenia4.7%
373Antithrombin III Deficiency4.7%
374Protein C Deficiency4.7%
375Brain Diseases, Metabolic, Inborn4.7%
376Hyperphosphaturia4.7%
377Klinefelter Syndrome4.7%
378Afibrinogenemia4.7%
379Dystonia Musculorum Deformans4.7%
380Factor VII Deficiency4.7%
381Factor X Deficiency4.7%
382Factor XII Deficiency4.7%
383Hemophilia A4.7%
384Leukomalacia, Periventricular4.7%
385Activated Protein C Resistance4.7%
386Factor II deficiency4.7%
387Factor VIII Deficiency4.7%
388Factor V deficiency4.7%
389Factor XI Deficiency4.7%
390Hypoprothrombinemias4.7%
391Fanconi Anemia4.7%
392Nesidioblastosis4.7%
393Microcephaly4.7%
394Macrocephaly4.7%
395Lafora Disease4.7%
396Unverricht-Lundborg Syndrome4.7%
397Anemia, Diamond-Blackfan4.7%
398Cellulitis4.6%
399Arthrogryposis4.5%
400Choanal Atresia4.5%
401Tracheobronchomegaly4.5%
402Laryngocele4.5%
403Choledochal Cyst4.4%
404Hermaphroditism4.4%
405Disorders of Sex Development4.4%
406Cryptorchidism4.4%
407Hypospadias4.4%
408Central Nervous System Cysts4.4%
409Dandy-Walker Syndrome4.4%
410Multiple Endocrine Neoplasia4.4%
411POEMS Syndrome4.4%
412Bronchomalacia4.4%
413Tracheomalacia4.4%
414Congenital Hypothyroidism4.3%
415Lichen Planus, Oral4.3%
416Cleft Palate4.1%
417Leigh Disease4.1%
418Blastomycosis4.1%
419HIV-Associated Lipodystrophy Syndrome4%
420Bladder Exstrophy4%
421Epispadias4%
422Multicystic Dysplastic Kidney4%
423Kernicterus4%
424Jaw Abnormalities4%
425Hydrops Fetalis3.9%
426Porencephaly3.8%
427Alkaptonuria3.8%
428Glycogen Storage Disease3.8%
429Hypophosphatasia3.8%
430Propionic acidemia3.8%
431Dihydropyrimidine Dehydrogenase Deficiency3.8%
432Cystinosis3.8%
433Rhinoscleroma3.8%
434Leishmaniasis, Cutaneous3.7%
435Eczema Herpeticum3.7%
436Fusariosis3.7%
437Scleromyxedema3.7%
438Gaucher Disease3.6%
439Huntington Disease3.6%
440Poland Syndrome3.5%
441Carbamoyl-Phosphate Synthase I Deficiency Disease3.4%
442Amelia3.4%
443Arachnodactyly3.4%
444Ectopia Cordis3.4%
445Ectromelia3.4%
446Hemimelia3.4%
447Meningomyelocele3.4%
448Phocomelia3.4%
449Sirenomelia3.4%
450Spina Bifida3.4%
451Polydactyly3.4%
452Brachydactyly3.4%
453Plagiocephaly3.4%
454Lower Extremity Deformities, Congenital3.4%
455Upper Extremity Deformities, Congenital3.4%
456Single umbilical artery3.4%
457Hyaline Membrane Disease3.4%
458Epidermodysplasia Verruciformis3.4%
459Herpes Labialis3.4%
460Hypolipoproteinemias3.4%
461Hyperlipidemia, Familial Combined3.4%
462Hyperlipoproteinemia Type III3.4%
463Diabetic Foot3.4%
464Nephroblastoma3.4%
465Staphylococcal Scalded Skin Syndrome3.4%
466Mesenteric Panniculitis3.3%
467Panniculitis, Peritoneal3.3%
468Tietze's Syndrome3.3%
469Orbital Cellulitis3.3%
470Myxoid cyst3.3%
471Myxedema3.2%
472Adenomatous Polyposis Coli3.1%
473Familial Periodic Paralysis3.1%
474Condylomata Acuminata3.1%
475Furunculosis3.1%
476furuncle3.1%
477Lactose Intolerance3.1%
478Impetigo3.1%
479Hyperhomocysteinemia3.1%
480Aortic coarctation3.1%
481Cor Triatriatum3.1%
482Coronary Vessel Anomalies3.1%
483Dental Enamel Hypoplasia3.1%
484Patent ductus arteriosus3.1%
485Ebstein Anomaly3.1%
486Heart Septal Defects3.1%
487Hypodontia3.1%
488Macrostomia3.1%
489Meningocele3.1%
490Microstomia3.1%
491Tetralogy of Fallot3.1%
492Transposition of Great Vessels3.1%
493Hypoplastic Left Heart Syndrome3.1%
494May-Thurner Syndrome3.1%
495Encephalocele3.1%
496Renal Aminoacidurias3%
497Fanconi Syndrome3%
498Pseudohypoaldosteronism3%
499Liddle Syndrome3%
500Craniofacial Dysostosis3%
501Tay-Sachs Disease3%
502Niemann-Pick Disease, Type C3%
503Hyperlipoproteinemia Type IV3%
504Hyperlipoproteinemia Type V3%
505Wolff-Parkinson-White Syndrome3%
506Hereditary Angioedema Type III2.9%
507Hereditary Angioedema Types I and II2.9%
508Osteochondritis2.9%
509Polymyalgia Rheumatica2.9%
510Micrognathism2.9%
511Pierre Robin Syndrome2.9%
512Keloid2.9%
513Gout2.8%
514Multiple Endocrine Neoplasia Type 12.8%
515Pseudohypoparathyroidism2.8%
516Glycogen Storage Disease Type I2.8%
517Glycogen Storage Disease Type V2.8%
518Friedreich Ataxia2.8%
519Renal tubular acidosis2.8%
520Long QT Syndrome2.8%
521Platybasia2.8%
522Tricuspid Atresia2.8%
523Arrhythmogenic Right Ventricular Dysplasia2.8%
524Denys-Drash Syndrome2.8%
525Gonadal Dysgenesis2.7%
526Adrenogenital Syndrome2.7%
527Ovotesticular Disorders of Sex Development2.7%
528Hyperandrogenism2.7%
529Retrognathia2.7%
530Rheumatoid Arthritis2.6%
531Juvenile arthritis2.6%
532carbuncle2.6%
533Lupus Nephritis2.6%
534Hypoalphalipoproteinemias2.5%
535Prognathism2.5%
536Familial Hypophosphatemic Rickets2.5%
537Dermal Sinus2.4%
538Spina Bifida Cystica2.4%
539Spina Bifida Occulta2.4%
540Lissencephaly2.4%
541Polymicrogyria2.4%
542Pachygyria2.4%
543Schizencephaly2.4%
544Periventricular Nodular Heterotopia2.4%
545Glycosuria, Renal2.3%
546Hypokalemic periodic paralysis2.2%
547Cystinuria2.2%
548Aortopulmonary Septal Defect2.1%
549Double Outlet Right Ventricle2.1%
550Endocardial Cushion Defects2.1%
551Myocardial bridging2.1%
552Aorticopulmonary Septal Defect2.1%
553Arthritis, Gouty2%
554MELAS Syndrome2%
555Mandibulofacial Dysostosis1.9%
556Romano-Ward Syndrome1.9%
557Rheumatoid Nodule1.8%
558Truncus Arteriosus, Persistent1.7%
559Goldenhar Syndrome1.7%
560Felty Syndrome1.6%
561Arteriovenous fistula1.6%
562Talipes1.5%
563Lupus Vasculitis, Central Nervous System1.5%
564Rheumatoid Vasculitis1.5%
565Sicca Syndrome1.3%
566Sjogren's Syndrome1.3%
567Congenital clubfoot1.3%
568Vertical Talus1.3%
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