SEI presents at birth or during the neonatal period with mild superficial blistering that is more frequent on flexures, shins, abdomen and extremities. [orpha.net]

Bullous ichthyosiform erythroderma typically presents with fragile skin (epidermolysis), which gives way to progressive hyperkeratosis. A mild, generalized erythroderma is present at birth. [ijdvl.com]

Lara-Corrales Medicine Atlas of Dermatology, Dermatopathology and Venereology 2021 This chapter is an overview of common and uncommon dermatological diseases with emphasis on presentations in the neonatal period. [semanticscholar.org]

• Psychomotor Retardation

  However, psychomotor retardation has been described in a 2-year-old patient with CRIE who carries the mutation c.1383_1414del32 in KRT10 (24). These features can be added to the list of minor features in CRIE. [medicaljournals.se]

Management and treatment Treatment is symptomatic. Emollient and mild topical keratolytics may be used to reduce hyperkeratosis. [orpha.net]

Treatment with oral ivermectin led to complete remission of symptoms. Disorders of keratinization can mimic clinical signs of scabies, leading to a delay in diagnosis. [scinapse.io]

Readers are guided through the maze that too often lies between the presenting skin complaint and its final diagnosis and treatment. [books.google.com]

Treatment Treatment is symptomatic. Keratolytics and emollients can be used to treat hyperkeratosis. Low dose oral retinoids can be helpful (<0.5mg/kg), but should be used with caution. References 1. Oji V, Tadini G, Akiyama M, et al. [geneskin.org]

Prognosis SEI is usually a mild disease. Life expectancy is normal and quality of life is not severely impaired. The documents contained in this web site are presented for information purposes only. [orpha.net]

The prognosis of epidermolytic ichthyosis is variable and depends on the severity of the symptoms. There is an immediate risk of dehydration, infection, sepsis, and premature death. [dermnetnz.org]

[…] individuals often have darker scales Associations - up to 50% of patients with ichthyosis vulgaris have features of atopic eczema, and many have keratosis pilaris Skin creases on the palms and soles are more prominent and there can be painful fissuring Prognosis [pcds.org.uk]

She advised clinicians to obtain a sample soon after birth to confirm the clinical diagnosis, assist with assessing prognosis, and enable genetic counseling. “It’s important to help identify those at risk for systemic complications,” she said. [mdedge.com]

Etiology SEI is caused by mutations in the KRT2 gene encoding keratin 2. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. [orpha.net]

Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification; typically involving the entire integument. [cris.maastrichtuniversity.nl]

Describe the presentation and etiology of epidermolytic hyperkeratosis. Identify and describe the two major autosomal recessive primary ichthyoses and their etiologies. the primary technique for dry skin care. [pedsinreview.aappublications.org]

AB - Background: Inherited ichthyoses belong to a large, clinically and etiologically heterogeneous group of mendelian disorders of cornification, typically involving the entire integument. [ohsu.pure.elsevier.com]

Summary Epidemiology Less than 30 families have been reported in the literature. Clinical description Clinical features of SEI are similar but milder that those of epidermolytic ichthyosis (EI; see this term). [orpha.net]

Keratosis palmoplantaris striata Synonym(s): - Ichthyosis bullosa of Siemens - SEI Classification (Orphanet): - Rare genetic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

(See "Epidermolysis bullosa: Epidemiology, pathogenesis, classification, and clinical features".) During childhood, blistering becomes less frequent, except at sites of trauma, and there is significant clinical heterogeneity in severity. [medilib.ir]

Various tables provide an overview on clinical and/or pathophysiologically related groups of diseases. [rooksdermatology.com]

[…] epidermolytic leukoplakia Terminology Other names: Epidermolytic ichthyosis Bullous congenital ichthyosiform erythroderma Bullous ichthysosis Bullous erythroderma ichthyosiformis congenita of Brocq Disorder of cornification type 3 Vorner's syndrome Pathophysiology [pathologyoutlines.com]

Further pathophysiological study should be performed to explore this hypothesis. One important additional point that needs to be discussed is the impact of sun avoidance on vitD level in ichthyosis patients. [ojrd.biomedcentral.com]

These include: Hydration and lubrication — important to prevent dehydration and electrolyte balance. Glycerol, petrolatum, and other lipid agents are used. [dermnetnz.org]

[…] minus' sign Virchow -triad Use Parentheses water AND (cup OR glass) Add an asterisk (*) at end of a word to include word stems Neuro* will search for Neurology, Neuroscientist, Neurological, and so on Use quotes to search for an exact phrase "primary prevention [read.qxmd.com]

[…] able to prevent only the abnormal keratin protein from being formed. [firstskinfoundation.org]

[…] and preventing normal cellular function). [o-wm.com]

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