Superficial epidermolytic ichthyosis

Superficial epidermolytic ichthyosis (SEI) is a rare keratinopathic ichthyosis (KI; see this term) characterized by the presence of superficial blisters and erosions at birth.



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Narrow down the case reports



Total: 14 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 27601192
 Superficial Epidermolytic Ichthyosis-Hypertrichosis as a Clue to Diagnosis.
Gameiro A, Cabral R, Moreno A, Tellechea O.
Pediatr Dermatol. 2016;33(6):e346-e348.
Hyperkeratosis
KRT2
Females Homo sapiens Hyperkeratosis, Epidermolytic Hypertrichosis Infant
1
(4.0%)		 23091584
 Ichthyosis bullosa of Siemens.
Ang-Tiu CU, Nicolas ME.
J Dermatol Case Rep. 2012;6(3):78-81.
Hyperkeratosis
KRT2
1
(4.0%)		 22612346
 Superficial epidermolytic ichthyosis: a report of two families.
Cervantes T, Pham C, Browning JC.
Pediatr Dermatol. 2013;30(4):469-72.
Hyperkeratosis
Child, Preschool Differential Diagnosis Females Genes, Dominant Heterozygote Homo sapiens Hyperkeratosis, Epidermolytic Ichthyosis Bullosa of Siemens Keratin-2 Male
1
(4.0%)		 21510005
 Lifelong scaling and blistering in a family.
Langan EA, Jamieson LA, Judge M.
Pediatr Dermatol. 2010;27(6):653-4.
Hyperkeratosis
Biopsy Bulla Child Homo sapiens Ichthyosis Bullosa of Siemens Infant Keratosis Male
1
(4.0%)		 16481710
 Ichthyosis bullosa of Siemens: response to topical tazarotene.
Rajiv S, Rakhesh SV.
Indian J Dermatol Venereol Leprol. 2006;72(1):43-6.
Hyperkeratosis
Administration, Topical Adult Females Homo sapiens Hyperkeratosis, Epidermolytic Keratolytic Agents Male Nicotinic Acids Skin Diseases, Vesiculobullous
1
(4.0%)		 15949009
 Ichthyosis bullosa of Siemens: its correct diagnosis facilitated by molecular genetic testing.
Akiyama M, Tsuji-Abe Y, Yanagihara M, Nakajima K, Kodama H, Yaosaka M, Abe M, Sawamura D, Shimizu H.
Br J Dermatol. 2005;152(6):1353-6.
Epidermal hyperkeratosis
c|SUB|G|1477|A c|SUB|T|1469|C p|SUB|E|493|K;RS#:137852629 p|SUB|L|490|P
Adult Child Child, Preschool Cytokeratin DNA Mutational Analysis Differential Diagnosis Females Homo sapiens Hyperkeratosis, Epidermolytic Ichthyoses Japan Keratin-2 Male Middle Aged Skin Syndrome
1
(4.0%)		 12383092
 A new variant of autosomal recessive exfoliative ichthyosis.
Zvulunov A, Cagnano E, Kachko L, Shorer Z, Elbedour K, Stevens H.
Pediatr Dermatol. 2002;19(5):382-7.
Edema
Dermatologic Agents Females Genes, Recessive Homo sapiens Ichthyoses Infant Infant, Newborn Male
1
(4.0%)		 10233323
 Ichthyosis bullosa of Siemens: report of a family with evidence of a keratin 2e mutation, and a review of the literature.
Basarab T, Smith FJ, Jolliffe VM, McLean WH, Neill S, Rustin MH, Eady RA.
Br J Dermatol. 1999;140(4):689-95.
Hyperkeratosis
KRT2
p|SUB|E|493|K;RS#:137852629 rs137852629
Adult Child Cytokeratin Electron Microscopy Females Homo sapiens Hyperkeratosis, Epidermolytic Ichthyoses Infant Keratin-2 Male Middle Aged Missense Mutation
1
(4.0%)		 7521371
 Ichthyosis bullosa of Siemens--a disease involving keratin 2e.
McLean WH, Morley SM, Lane EB, Eady RA, Griffiths WA, Paige DG, Harper JI, Higgins C, Leigh IM.
J Invest Dermatol. 1994;103(3):277-81.
Erythroderma
KRT2
rs137852629
Base Sequence Child Cytokeratin Differential Diagnosis Electron Microscopy Females Heterozygote Homo sapiens Hyperkeratosis, Epidermolytic Ichthyoses Intermediate Filaments Keratin-2 Molecular Probes Molecular Sequence Data Point Mutation Polymerase Chain Reaction
1
(4.0%)		 3522665
 Ichthyosis bullosa of Siemens: a unique type of epidermolytic hyperkeratosis.
Traupe H, Kolde G, Hamm H, Happle R.
J Am Acad Dermatol. 1986;14(6):1000-5.
Erythroderma
Adult Biopsy Child Differential Diagnosis Females Homo sapiens Ichthyoses Male Skin Skin Diseases, Vesiculobullous
        

Phenotype(s) retrieved from Orphanet

    Total: 7

HPO ID Term Frequency
HP:0000963 Thin skin Very frequent (99-80%)
HP:0000969 Edema Very frequent (99-80%)
HP:0000982 Palmoplantar keratoderma Very frequent (99-80%)
HP:0008064 Ichthyosis Very frequent (99-80%)
HP:0008066 Abnormal blistering of the skin Very frequent (99-80%)
HP:0100792 Acantholysis Very frequent (99-80%)
HP:0010783 Erythema Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0001019 Erythroderma 4
HP:0000962 Hyperkeratosis 2
HP:0000998 Hypertrichosis 1
HP:0007543 Epidermal hyperkeratosis 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
KRT2 keratin 2 3849