Results 21 to 30 of about 11,448 (231)

Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family

Therapeutics and Clinical Risk Management, 2014
Zhiliang Li,1,* Qiao Liu,2,* Aimin Wang,2 Hongsheng Wang,1 Chengrang Li1 1Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, People's Republic of China; 2Hainan ...
Li Z, Liu Q, Wang A, Wang H, Li C
doaj   +3 more sources

Mosaic epidermolytic ichthyosis [PDF]

BMJ Case Reports, 2021
We report the case of a 51-year-old female patient observed for papillomatous, pigmented, confluent and slightly reticulated lesions, some of which were linear, located mainly in the armpits and extending to the trunk and cervical region and present since birth ([figure 1][1]).
Sónia Raquel, Mendes, Ana Rita, Gameiro, José Carlos, Cardoso, José Pedro, Reis   +3 more
openaire   +2 more sources

A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation

Pifu-xingbing zhenliaoxue zazhi, 2022
A case of epidermolytic palmoplantar keratosis caused by KRT9 mutation is reported. A 32-year-old Chinese man presented with a 30-year history of palmoplantar hyperkeratotic plaques.
Wencong XU, Lei ZHU, Hang SU, Jiao ZHANG, Wenjing CHEN, Yongfeng CHEN   +5 more
doaj   +1 more source

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings. [PDF]

Clin Case Rep
ABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Zaeem M, Hassan AHMU, Javaid MH, Usman M, Ahmed M, Naveed MU, Al Aboud MY.   +6 more
europepmc   +2 more sources

Concurrent superficial epidermolytic ichthyosis and generalized pustular psoriasis - Report of a case, review of the literature, and a proposed pathophysiologic link [PDF]

JAAD Case Reports
Jing Yi Han, BSc (Hons), Isabelle A. Vallerand, MD, PhD, Ahmed Shah, MD, MSc, Michelle M. Schneider, MB, BCh, BAO, Lynne H. Robertson, MD   +4 more
doaj   +2 more sources

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]

Anim Genet
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Rietmann SJ, Malatos J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

Systematised Epidermal Nevus - A Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2015
A 20-year-old female presented with raised skin lesions all over the body since birth. Clinical examination revealed multiple pigmented macules and hyperkeratotic papules seen along Blaschko's lines over the face, neck, trunk and both lower limbs ...
MANOHARAN DHANARAJ, MANOHARAN RAMALINGAM
doaj   +1 more source

A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis.

PLoS ONE, 2022
A 3-months old Chinese shar-pei puppy with ichthyosis was investigated. The dog showed generalized scaling, alopecia and footpad lesions. Histopathological examinations demonstrated a non-epidermolytic hyperkeratosis.
Verena K Affolter, Sarah Kiener, Vidhya Jagannathan, Terry Nagle, Tosso Leeb   +4 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   +5 more sources

Narrowing the Differential: A Unique Case of Dystrophic Epidermolysis Bullosa. [PDF]

Case Rep Pediatr
Dystrophic epidermolysis bullosa (DEB) is a rare inherited skin disorder characterized by mechanical stress‐induced blistering and skin erosion. Diagnosis is confirmed through molecular genetic testing, typically identifying mutations in the COL7A1 gene. DEB can mimic other neonatal dermatologic conditions, making early identification challenging.
Yacobucci L, Edwards C, Oosbree AV, Newman R.   +3 more
europepmc   +2 more sources