Results 131 to 140 of about 9,426 (154)

Filaggrin expression in epidermolytic ichthyosis (epidermolytic hyperkeratosis)

British Journal of Dermatology, 1994
To evaluate the role of filaggrin in keratin filament aggregation in epidermolytic ichthyosis (epidermolytic hyperkeratosis, EH), we studied EH skin by light and electron microscopic immunohistochemistry, and biochemical analysis using sodium dodecylsulphate-polyacrylamide gel electrophoresis and immunoblotting.
Robin A.J. Eady, Karen A. Holbrook, R.A. Underwood, Beverly A. Dale, A. Ishida-Yamamoto   +4 more
openaire   +3 more sources

Management of Epidermolytic Ichthyosis in the Newborn

Neonatal Network, 2016
AbstractEpidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis that presents at birth as a bullous disease, followed by a lifelong ichthyotic skin disorder.1 Essentially, it is a defective keratinization caused by mutations of keratin 1 (KRT1) or keratin 10 (KRT10) genes, which lead to skin fragility, blistering, and eventually ...
Mondell Avril, Cheryl Riley
openaire   +3 more sources

Novel missense mutation c.539A>G; p.Glu180Gly in keratin 1 causing epidermolytic ichthyosis

Journal of dermatology (Print), 2021
Dear Editor, A 23yearold Japanese man had experienced erythema and blisters throughout the body from his birth. In early childhood, hyperkeratotic scaly plaques appeared on the trunk, as well as edematous erythema spread throughout the body excluding the
M. Sashikawa, H. Tsuda, M. Komine, M. Ohtsuki   +3 more
semanticscholar   +1 more source

Annular epidermolytic ichthyosis: A unique phenotype

Journal of the American Academy of Dermatology, 1992
A 30-year-old white woman developed bullous and ichthyosiform skin lesions at the age of 8 months. Blistering ceased at puberty, but the hyperkeratotic plaques persisted. She subsequently delivered five children, two of whom were affected with a bullous type of ichthyosis.
Eleanor E. Sahn, Carl E. Weimer, Paul D. Garen   +2 more
openaire   +2 more sources

Ichthyosis bullosa of Siemens: A unique type of epidermolytic hyperkeratosis [PDF]

Journal of the American Academy of Dermatology, 1986
We report the second family of ichthyosis bullosa, an entity that was first described by Siemens in 1937 and since then has fallen into oblivion. Clinically, ichthyosis bullosa is characterized by blistering resembling epidermolysis bullosa simplex and by generalized, yet circumscribed dark gray hyperkeratoses covering mainly the arms and the legs ...
Henning Hamm, Rudolf Happle, Heiko Traupe, Gerhard Kolde   +3 more
openaire   +2 more sources

Coxsackie Eruption Arising in Areas of Epidermolytic Ichthyosis

Pediatric Dermatology, 2015
AbstractCoxsackie eruptions concentrated in areas of atopic dermatitis, a phenomenon termed “eczema coxsackium,” has been well described in the literature but, to our knowledge, the concentration of coxsackie viral lesions to areas of ichthyosis has not been reported.
Lewis, Suzanna, Rico, Tace
openaire   +4 more sources

Epidermolytic Ichthyosis Treated with Low-dose Isotretinoin

Journal of the Philippine Dermatological Society
Affecting only 1 in 200,000–300,000 persons worldwide, epidermolytic ichthyosis (EI) is a rare autosomal dominant genodermatosis presenting with a characteristic phenotype of generalized corrugated scaling. We report a case of EI highlighting significant
Nica Minerva Olivar-Floro, J. Go
semanticscholar   +1 more source

Transcriptomic response of peripheral blood mononuclear cells to secukinumab in epidermolytic ichthyosis.

Clincal and Experimental Dermatology
Epidermolytic ichthyosis (EI) is a subtype of ichthyosis, characterized by generalized blistering, erythroderma since birth followed by scaling and palmoplantar keratoderma.
P. Hou, Yi-Kai Hong, Yu-Chen Lin, Min-Chia Yang, Chung-Ting Hsu, J. McGrath, Chao-Kai Hsu   +6 more
semanticscholar   +1 more source

Superficial Epidermolytic Ichthyosis: A Report of Two Families

Pediatric Dermatology, 2012
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 ...
B S Tessa Cervantes, Catherine Pham, John C. Browning   +2 more
openaire   +3 more sources

Superficial Epidermolytic Ichthyosis—Hypertrichosis as a Clue to Diagnosis

Pediatric Dermatology, 2016
AbstractSuperficial epidermolytic ichthyosis (SEI) is an autosomal dominant disorder caused by a mutation in the keratin 2 gene and clinically characterized by mild hyperkeratosis, superficial blisters and shedding, referred to as the moulting phenomenon. We report a case of SEI in an 18‐month‐old girl presenting with marked hypertrichosis.
Rita Cabral, Óscar Tellechea, Ana Gameiro, Ana Moreno   +3 more
openaire   +2 more sources