Results 111 to 120 of about 5,312 (130)

Decoding the Cutaneous Jigsaw: Understanding the Patho-mechanisms of Cutaneous Mosaicism. [PDF]

Indian Dermatol Online J
Prasanna S, Singh S, Bhoite K.
europepmc   +1 more source

Vancomycin-Induced Linear IgA Bullous Disease in a Neonate. [PDF]

Indian Dermatol Online J
Gupta A, Rajan R, Telugu RB.
europepmc   +1 more source

The Candle Spot: An Unreported Sign of SULT2B1-nEDD. [PDF]

Acta Derm Venereol
Milesi S, Chiaverini C, Chêne L, Jonca N, Mazereeuw-Hautier J.   +4 more
europepmc   +1 more source

Mosaic STIM1 variant associated with epidermal naevus. [PDF]

Br J Dermatol
Luo AJ, Jiang X, Ellis KT, Liu W, Hu R, Atzmony L, Choate KA.   +6 more
europepmc   +1 more source

Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing <i>Trichophyton rubrum</i> Infection and Blocker Displacement Amplification for Mosaic Mutation Detection. [PDF]

Biomedicines
Liu J, Fu Y, Zhang Q, Chen Q, Yang Y, Xue Y, Ren Y.   +6 more
europepmc   +1 more source

Patient Perspectives, Unmet Needs and Dilemmas in Reproductive Decision-making for Genodermatoses: A Qualitative Interview Study. [PDF]

Acta Derm Venereol
Van Veen FCAP, Borghouts OJM, Clabbers JMK, Steijlen PM, Veldman K, Tammer F, Van Geel M, Mosterd K, Van Osch L, Heijligers M, Gostyński AH.   +10 more
europepmc   +1 more source

Gene Editing–Mediated Disruption of Epidermolytic Ichthyosis–Associated KRT10 Alleles Restores Filament Stability in Keratinocytes [PDF]

Journal of Investigative Dermatology, 2019
Epidermolytic ichthyosis is a skin fragility disorder caused by dominant-negative mutations in KRT1 or KRT10. No definitive restorative therapies exist that target these genetic faults.
Patricia Ebner, Stefan Hainzl
exaly   +2 more sources

A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis

British Journal of Dermatology, 2010
Background Epidermolytic ichthyosis (EI), previously termed bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is a clinically heterogeneous genodermatosis caused by mutations in the genes encoding the suprabasal keratins 1 ...
Marcel F. Jonkman, M A M van Steensel, M F Jonkman   +2 more
exaly   +2 more sources

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Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a variant

European Journal of Medical Genetics, 2021
Ene-Choo Tan, Yi Zhao, Shi Yun Chia
exaly