Results 51 to 60 of about 13,745 (220)

Report of an autosomal recessive epidermolytic ichthyosis

Indian Journal of Paediatric Dermatology, 2020
Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized
K S Chandan, S R Ashitha, Sachin Somashekhar, L Shishira   +3 more
doaj   +1 more source

Ichthyoses—A Clinical and Pathological Spectrum from Heterogeneous Cornification Disorders to Inflammation

Dermatopathology, 2021
Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening.
Dieter Metze, Heiko Traupe, Kira Süßmuth   +2 more
doaj   +1 more source

Epidermolytic hyperkeratosis

Dermatology Online Journal, 2006
A 13-year-old boy presented to the dermatology clinic for treatment of a congenital ichthyosis with a history of generalized erythroderma and trauma related blistering at the time of birth. At the time of presentation he was noted to have red corrugated hyperkeratotic plaques involving the joint flexures, dorsal hands, and neck.
Kwak, Juliann, Maverakis, Emanual
openaire   +4 more sources

Disseminated epidermolytic acanthoma probably related to trauma [PDF]

, 1999
Epidermolytic acanthoma is a rare benign tumour, which may occur in both isolated and disseminated forms. Only seven cases of disseminated epidermolytic acanthoma (DEA) have been described. This entity should be distinguished from other
España, A. (Agustín), Idoate, M.A. (Miguel Ángel), Sanchez-Carpintero-Abad, I. (Ignacio)   +2 more
core   +1 more source

X-linked ichthyosis presenting with cryptorchidism for orchidopexy: A rare anesthetic encounter and case report. [PDF]

Clin Case Rep
Key Clinical Message Cutaneous scaling and associated clinical syndrome displayed in X‐linked ichthyosis mandates multidisciplinary care. Patient with ichthyosis confronts a numerous challenge to an anesthesiologist and demands a rigorous management.
Bhatta S, Pandit S, Chaudhary P, Chhetri NT.   +3 more
europepmc   +2 more sources

SDR9C7 missense variant in a Chihuahua with non‐epidermolytic ichthyosis

Animal Genetics, Volume 54, Issue 4, Page 562-565, August 2023., 2023
Abstract Ichthyoses represent a heterogeneous group of cornification disorders that are associated with skin barrier defects. We investigated a 9‐month‐old Chihuahua showing excessive scale formation. Clinical and histopathological examinations revealed non‐epidermolytic ichthyosis and a genetic defect was suspected.
Sarah Kiener, Eloy Castilla, Vidhya Jagannathan, Monika Welle, Tosso Leeb   +4 more
wiley   +1 more source

Acral lamellar ichthyosis with amino acid substitution in the C‐terminus of keratin 2

Journal of the European Academy of Dermatology and Venereology, Volume 37, Issue 4, Page 817-822, April 2023., 2023
Abstract Background Most cases of hereditary ichthyoses present with generalized scaling and skin dryness. However, in some cases skin involvement is restricted to particular body regions as in acral lamellar ichthyosis. Objectives We report on the genetic basis of acral ichthyosis in two families presenting with a similar phenotype.
Leonie Frommherz, Katalin Komlosi, Charlotte Hewel, Julia Kopp, Malin Dewenter, Andreas Zimmer, Oliver Bartsch, Matthias Linke, Kristin Technau‐Hafsi, Susanne Gerber, Judith Fischer, Cristina Has   +11 more
wiley   +1 more source

A case of knuckle pad syndrome in a middle‐aged man

Clinical Case Reports, Volume 10, Issue 12, December 2022., 2022
Knuckle pads are uncommonly encountered in clinical practice and may be mistaken for other rheumatologic diseases. They are benign, typically manifest in early adulthood, and may be idiopathic, hereditary, or acquired. They have a distinct appearance on musculoskeletal ultrasound, which can be used to spare unnecessary further diagnostic evaluation ...
Zachary Chandler, Kimberly Seamon, Karishma Ramsubeik, Gurjit Kaeley   +3 more
wiley   +1 more source

Transgenic models of skin diseases [PDF]

, 1993
Background: Transgenic animals have greatly enhanced our understanding of the contribution of various structural and regulatory components to epidermal biology. The expression of mutant versions of these components in the epidermis of transgenic mice has
Bickenbach, Jackie R., Dominey, Andrea M., Greenhalgh, David A., Roop, Dennis R., Rothnagel, Joseph A., Sellheyer, Klaus, Wang, Xiao-Jing   +6 more
core   +1 more source

Tylosis with oesophageal cancer: Diagnosis, management and molecular mechanisms [PDF]

, 2015
Research on iRHOM2 in the Kelsell group is funded by an MRC project grant, a MRC Clinical Fellowship (to TM) and a Cancer Research UK program ...
A Ellis, AB Varela, AE Field, Anthony Ellis, C Adrain, C Scott, CA Souza De, CR Leemans, David P. Kelsell, DC Blaydon, DC Blaydon, DP Kelsell, H Smart, HC Hennies, HP Stevens, Janet M. Risk, L Hong, M Knöbel, M Zettl, MA Brooke, MA Brooke, MT Ashworth, PH Itin, PS Harper, S Saarinen, T Maruthappu, Thiviyani Maruthappu, W Howel-Evans, WR Tyldesley   +28 more
core   +1 more source