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.



Input patient's signs and symptoms


Narrow down the case reports



Total: 14 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(4.0%)
2178822
Ichthyosis bullosa of Siemens and bullous ichthyosiform erythroderma--variants of the same disease?
Murdoch ME, Leigh IM.
Clin Exp Dermatol. 1990;15(1):53-6.
Erythroderma
Females Homo sapiens Ichthyoses Skin Diseases, Vesiculobullous
1
(4.0%)
2138447
Ichthyosis bullosa of Siemens: further delineation of the phenotype.
Steijlen PM, Perret CM, Schuurmans Stekhoven JH, Ruiter DJ, Happle R.
Arch Dermatol Res. 1990;282(1):1-5.
Hyperkeratosis
Adult Electron Microscopy Epidermis Females Homo sapiens Ichthyoses Male Middle Aged Phenotype
1
(4.0%)
1836350
Ichthyosis bullosa of Siemens responds well to low-dosage oral retinoids.
Steijlen PM, van Dooren-Greebe RJ, Happle R, Van de Kerkhof PC.
Br J Dermatol. 1991;125(5):469-71.
Erythroderma
Adult Drug Administration Schedule Females Hand Homo sapiens Ichthyosiform Erythroderma, Congenital Leg Male Middle Aged Retinoids Skin
1
(4.0%)
1517502
Annular epidermolytic ichthyosis: a unique phenotype.
Sahn EE, Weimer CE Jr, Garen PD.
J Am Acad Dermatol. 1992;27(2 Pt 2):348-55.
Erythroderma
Adult Child, Preschool Electron Microscopy Females Homo sapiens Ichthyosiform Erythroderma, Congenital Male Phenotype
        

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