Results 31 to 40 of about 5,312 (130)

From variant of unknown significance to actionable diagnosis: Stepwise interpretation of a novel KRT2 variant in superficial epidermolytic ichthyosis with excellent retinoid response [PDF]

JAAD International
Alexandra Carla Bobica, MSc, MD, Sarah Moussa, MD, Lydia Ouchene, MD, Megha Udupa, MD, Hessah BinJadeed, MBBS, Rahaf Bashihab, MBBS, Zuzanna Misiewicz, PhD, Laura Grönroos, MSc, Julie Powell, MD, May Chergui, MD, Tania Cruz Marino, MD, PhD, William D. Foulkes, MBBS, PhD, Elena Netchiporouk, MD, MSc   +12 more
doaj   +2 more sources

Congenital ichthyosis in a Maltese dog: A case report

Veterinární Medicína, 2021
This case report describes congenital ichthyosis in a Maltese dog, a condition, which has not previously been reported in this breed. The dog presented with several dry, tightly adhering scales showing a multi-focal appearance.
Kim TS, Seo JA, Oh TH, Park JK, Jeong KS, Hong IH   +5 more
doaj   +1 more source

Epidermolytic ichthyosis complicated by staphylococcal scalded skin syndrome in the newborn [PDF]

, 2022
Epidermolytic ichthyosis is characterized by erythema and blistering at birth. We present a neonate with epidermolytic ichthyosis who had a subtle change in clinical findings while hospitalized, including increased fussiness, erythema, and a change in ...
Peck, Gabrielle M, Flood, Kelsey, Marathe, Kalyani   +2 more
core   +1 more source

Congenital Segmental Erosions and Hyperkeratotic Plaques in a Male Infant: A Quiz [PDF]

Acta Dermato-Venereologica
Kaan Yilmaz, Christina Evers, Oliver Brandau, Marthe-Lisa Schaarschmidt, Cyrill Géraud   +4 more
doaj   +2 more sources

Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis

Pediatric Investigation, 2023
Importance Keratinopathic ichthyosis (KPI) represents a group of predominantly autosomal dominant genodermatoses resulting from mutations in the KRT1, KRT2, or KRT10 genes. In KPI, the relationship between genotype and phenotype is complex.
Zhou Yang, Zhe Xu, Rui He, Xin Xiang, Bin Zhang, Lin Ma   +5 more
doaj   +1 more source

Ichthyosis (concept, pathohistology, clinical picture, treatment)

Vestnik Dermatologii i Venerologii, 2021
Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova, Zarema Rimovna Khismatullina, Lyudmila Dmitrievna Panova, Anastasia Nikolaevna Panova   +3 more
doaj   +1 more source

Epidermolytic Hyperkeratosis - case report [PDF]

Anais Brasileiros de Dermatologia, 2015
: Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girlwho presented an hypertrophic verrucous plaques in the neck, under arm ...
Marcos Takeyoshi Hayashida, Grasiela Lissa Mitsui, Natalia Ivanoff dos Reis, Giovana Fantinato, Domingos Jordão Neto, Ana Maria da Cunha Mercante   +5 more
doaj   +1 more source

A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma [PDF]

, 2020
We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation.
Schepis, Carmelo, Failla, Pinella, Siragusa, Maddalena, Calì, Francesco, Vinci, Mirella   +4 more
core   +1 more source

Ichthyosis in Dogs—Congenital Dermatologic Disorder

Folia Veterinaria, 2021
The skin provides protective functions, such as thermoregulation, resorption, provision of immune responses, storage and sensory functions, which all play an important role in the internal stability of the organism.
Malinovská Z., Čonková E.
doaj   +1 more source

Generalized and Naevoid Epidermolytic Ichthyosis in Denmark : Clinical and Mutational Findings [PDF]

, 2013
A Danish Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis.
Bygum, Anette, Virtanen, Marie,, Brandrup, Flemming, Vahlquist, Anders, Sommerlund, Mette, Vahlquist, Anders,, Lund University., Strauss, Gitte, Bygum, Anette; id_orcid, Gånemo, Agneta,, Virtanen, Marie, Ganemo, Agneta   +11 more
core   +1 more source