Results 91 to 100 of about 10,297 (160)

Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma [PDF]

, 2019
Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell-fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due
Wilson, N. J., Kreuser-Genis, I. M., Smith, F. J. D., Jury, C. S., Terron-Kwiatowski, A., Zamiri, M.   +5 more
core   +1 more source

A Novel Mutation of a Leucine Residue in Coil 1A of Keratin 9 in Epidermolytic Palmoplantar Keratoderma [PDF]

, 1997
Keratin 9 mutation was examined in a Japanese kindred of epidermolytic palmoplantar keratoderma (EPPK), which is a dominantly inherited autosomal disorder of keratinization characterized by diffuse thickening of the palms and soles and by epidermolytic ...
Endo, Hideharu, Shinkai, Hiroshi, Hatamochi, Atsushi   +2 more
core   +1 more source

Epidermolytic hyperkeratosis of the vulva: Case report and review of the literature

Skin Health and Disease
Epidermolytic hyperkeratosis is a rare histopathological phenomenon which has been reported in a number of dermatological conditions. It is rare but can cause chronic and intractable symptoms which can impede the quality of life of those affected ...
Dilshad Sachedina, Camila Villa‐Ruiz, Candice Brem, Debjani Sahni   +3 more
doaj   +1 more source

Hereditary epidermolytic palmoplantar keratosis due to a novel desmoglein‐1 mutation: A case report

Clinical Case Reports
Key Clinical Message Keratosis palmoplantaris striata type I (SPPK‐I) is a rare autosomal‐dominant type of hereditary epidermolytic palmoplantar keratoderma, which can be caused by mutations in desmoglein‐1 (DSG‐1).
Kevin Koschitzki, Bernadett Kurz, Julia Schreml, Judith Fischer, Alrun Hotz, Christoph M. Hammers, Mark Berneburg, Dennis Niebel, Stephan Schreml   +8 more
doaj   +1 more source

Coexistence of Acantholytic Dyskeratosis and Epidermolytic Hyperkeratosis in a Single Cutaneous Lesion: A Case Report and Brief Review

: Acantholytic dyskeratosis and epidermolytic hyperkeratosis are distinct histopathologic patterns reflecting abnormalities in keratinocyte differentiation. Although typically considered separate histopathologic reaction patterns, their
Manuel Sánchez-Arjona, Manuel Lecona, Luis Requena   +2 more
core   +1 more source

Nevus Unius Lateris With Epidermolytic Hyperkeratosis Managed With Radiofrequency Ablation: A Case Report. [PDF]

Cureus
Jack J, Raviprakash D, Joseph L, Sundaram M.   +3 more
europepmc   +1 more source

Nevoid follicular epidermolytic hyperkeratosis in a blaschkoid epidermal nevus. [PDF]

JAAD Case Rep
Raihane AS, Chiu LW, Elwood HR, Durkin JR.   +3 more
europepmc   +1 more source

Scrotal Paget disease with epidermolytic acanthoma. [PDF]

JAAD Case Rep
Li JF, Tan ZH, Zhuang YC, Sun YZ.
europepmc   +1 more source

Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers. [PDF]

PLoS One
De Iorio MG, Polli M, Ghilardi S, Frattini S, Bagardi M, Paganelli A, Cozzi MC, Seghrouchni K, Brambilla PG, Minozzi G.   +9 more
europepmc   +1 more source

Epidermal nevi and epidermolytic hyperkeratosis: A review of cases, highlighting indications for biopsy and genetics referral

Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants.
Cha, Kelly B., Mancuso, Jennifer B., Isaac, Jacqueline M., Nelson, Jessie M., Mervak, Julie E., Arreola, Amanda, Chan, May P.   +6 more
core   +1 more source