1.
Eur J Dermatol
; 28(1): 94-96, 2018 02 01.
Article
in English
| MEDLINE
| ID: mdl-29171394
Subject(s)
Dermatitis, Atopic/genetics , Ichthyosis Bullosa of Siemens/genetics , Intermediate Filament Proteins/genetics , Keratin-2/genetics , Adolescent , Adult , Dermatitis, Atopic/complications , Filaggrin Proteins , Humans , Ichthyosis Bullosa of Siemens/complications , Immunoglobulin E/blood , Infant , Infant, Newborn , Male
2.
J Dermatol Sci
; 70(3): 220-2, 2013 Jun.
Article
in English
| MEDLINE
| ID: mdl-23623204
Subject(s)
Hyperkeratosis, Epidermolytic/genetics , Ichthyosis Bullosa of Siemens/diagnosis , Keratin-1/genetics , Mutation , Adolescent , DNA Mutational Analysis , Diagnosis, Differential , Genetic Predisposition to Disease , Humans , Hyperkeratosis, Epidermolytic/pathology , Ichthyosis Bullosa of Siemens/genetics , Ichthyosis Bullosa of Siemens/pathology , Male , Phenotype , Predictive Value of Tests , Protein Structure, Tertiary , Severity of Illness Index , Skin/pathology
3.
Pediatr Dermatol
; 30(4): 469-72, 2013.
Article
in English
| MEDLINE
| ID: mdl-22612346
ABSTRACT
Superficial epidermolytic ichthyosis (SEI), previously known as ichthyosis bullosa of Siemens, is a rare genetic skin condition, characterized by blisters and hyperkeratosis. It can be easily confused with epidermolytic hyperkeratosis, known now as epidermolytic ichthyosis, and genetic testing can be helpful in differentiating between the two conditions. We describe two children with SEI confirmed by genetic testing, including one with a novel mutation. We also describe other affected family members with SEI.
Subject(s)
Hyperkeratosis, Epidermolytic/diagnosis , Hyperkeratosis, Epidermolytic/genetics , Ichthyosis Bullosa of Siemens/diagnosis , Ichthyosis Bullosa of Siemens/genetics , Keratin-2/genetics , Child, Preschool , Diagnosis, Differential , Family Health , Female , Genes, Dominant , Heterozygote , Humans , Male
4.
Curr Probl Dermatol
; 39: 98-131, 2010.
Article
in English
| MEDLINE
| ID: mdl-20838039
Subject(s)
Ichthyosis/genetics , Keratinocytes/metabolism , Keratins/genetics , Animals , Dermatitis, Seborrheic/genetics , Dermatitis, Seborrheic/metabolism , Dermatitis, Seborrheic/pathology , Desmosomes/metabolism , Desmosomes/ultrastructure , Epidermis/metabolism , Epidermis/pathology , Genes, Dominant , Genes, Recessive , Humans , Hyperkeratosis, Epidermolytic/genetics , Hyperkeratosis, Epidermolytic/metabolism , Hyperkeratosis, Epidermolytic/pathology , Ichthyosis/metabolism , Ichthyosis/pathology , Ichthyosis Bullosa of Siemens/genetics , Ichthyosis Bullosa of Siemens/metabolism , Ichthyosis Bullosa of Siemens/pathology , Ichthyosis Vulgaris/genetics , Ichthyosis Vulgaris/metabolism , Ichthyosis Vulgaris/pathology , Infant, Newborn , Keratins/metabolism , Membrane Proteins/genetics , Membrane Proteins/metabolism , Mice , Mutation
5.
Br J Dermatol
; 156(5): 1042-4, 2007 May.
Article
in English
| MEDLINE
| ID: mdl-17408392
