Superficial epidermolytic ichthyosis: A rare disorder with the unusual absence of blistering [PDF]
Superficial epidermolytic ichthyosis (SEI), formerly known as ichthyosis bullosa of Siemens (IBS), is an extremely rare keratinization disorder with superficial peeling, with an estimated prevalence of 1:500,000, caused by a variety of mutations in the ...
Ashwani Rana, Prajul Mehta
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Congenital ichthyosis in a Maltese dog: A case report
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+5 more
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Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings [PDF]
A Danish-Swedish collaboration was established to identify and classify a Danish cohort of patients with epidermolytic ichthyosis, also known as epidermolytic hyperkeratosis. Patients were recruited from 5 dermatology departments in Denmark, and data were obtained using a structured questionnaire and a systematic examination together with photographs ...
Anette Bygum+6 more
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Ichthyosis (concept, pathohistology, clinical picture, treatment)
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+3 more
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AKRT1gene mutation related to epidermolytic ichthyosis in a Chinese family [PDF]
We report a Chinese family with members affected by epidermolytic ichthyosis (EI), caused by KRT gene mutations. The proband was a 14-year-old boy who had simultaneous appearance of nephroblastoma and epidermolytic ichthyosis (EI). Both the patient and his mother exhibited the specific clinical and pathological manifestations of EI.
Yunxi Ji, Ying Bai, S. Wang, F. Q. Li
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Epidermolytic Hyperkeratosis - case report [PDF]
: 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+5 more
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Ichthyosis in Dogs—Congenital Dermatologic Disorder
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.
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Superficial Epidermolytic Ichthyosis: Clinical and Histopathological Features in Two Siblings
Superficial epidermolytic ichthyosis (SEI), a type of keratinopathic ichthyosis (KPI) caused by mutations in the K2e gene, is clinically characterized by superficial blistering, hyperkeratosis predominantly involving flexures and joints, Mauserung ...
Pooja Shah, Bela Padhiar
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Extensive Postzygotic Mosaicism for a Novel Keratin 10 Mutation in Epidermolytic Ichthyosis
Dimitra Kiritsi+6 more
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Congenital staphylococcal scalded skin syndrome in a preterm infant
Key Clinical Message Staphylococcal scalded skin syndrome (SSSS) is a rare condition in premature infants. We report a case of SSSS in a preterm neonate who displayed all clinical manifestations at birth, leading to a fatal outcome from Candida parapsilosis fungemia. The clinical presentation was challenging to differential diagnosis.
Ting‐Yu Lee, Tzu‐Yu Liu
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