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

Conclusion Our patient presented with an extreme presentation of a common disease. Based upon the history, IV was considered. However, the severity of the clinical presentation of hyperkeratosis strongly suggested an alternative diagnosis. [dovepress.com]

Published on Oct 12, 2011 It's the first presentation made by me ever :) Ichthyoses and Ichthyosiform disorders 2. ICHTHYOSES AND ICHTHYOSIFORM SYNDROMES Presented by Dr. Ibrahim Md. Sharaf HMO, Dept. of Skin & VD 3. [slideshare.net]

The abnormality in skin growth and hydration called ichthyosis may present with symptoms at birth or in early childhood. [medical-dictionary.thefreedictionary.com]

Non-syndromic Improves with warm, humid weather and worsens with dry, cold weather Skin may appear normal at birth, may not present until age 5 Fine white to gray scaling most prominent on abdomen and extensor surfaces of extremities with sparing of [pedclerk.bsd.uchicago.edu]

• Disability

  BACKGROUND: The concept of individual burden, associated with disease, has been introduced recently to determine the "disability" caused by the pathology in the broadest sense of the word (psychological, social, economic, physical). [ncbi.nlm.nih.gov]

  Please enable JS and disable any ad blocker [lequotidiendumedecin.fr]

  Otherwise the individual burden takes care of the patient himself (or its family, its care giver) and describes the disability produced by the disease in the broadest sense of the word (psychological, social, economic, physical). [link.springer.com]

  For instance, Refsum disease and Sjögren-Larsson syndrome (hereditary intellectual disability and spastic paralysis caused by a defect in fatty aldehyde dehydrogenase) are autosomal recessive conditions with skin and extracutaneous organ involvement. [msdmanuals.com]

• Pathologist

  Some of the diagnostic steps for X-Linked Recessive Ichthyosis include: A through family history and a complete physical examination Complete blood count (CBC) Examination of peripheral blood smear under a microscope by a pathologist Ultrasonography may [dovemed.com]

• Failure to Thrive

  The majority of the congenital phenotypes transform into generalized scaling that typically persists throughout life. 30, 31 Polyhydramnion associated with prematurity and post-natal failure to thrive are clinical features relevant for the diagnosis of [nature.com]

• Hypertension

  Delivery Models Health Care Economics, Insurance, Payment Health Care Policy Health Care Quality Health Care Reform Health Care Safety Health Care Workforce Health Disparities Health Informatics Health Policy Hematology History of Medicine Humanities Hypertension [jamanetwork.com]

• Myopathy

  Familial H ypobetalipoproteinaemia ( APOB ) Familial h ypomagnesemia with hypercalciuria and nephrocalcinosis with/without severe ocular involvement H ypophosphatasia I ncontinentia pigmenti J ohanson–Blizzard syndrome J oubert syndrome L aing distal myopathy [gfhev.de]

  […] fibroblasts, leucocytes) Elevated plasma cholesterol sulphate levels Refsum's disease AR Retinitis pigmentosa Peripheral neuropathy ataxia PAHX/Phytanol-CoA alpha-hydroxylase Elevation of plasma phytanic acid levels Dorfman Chanarin syndrome AR Hepatomegaly Myopathy [dermquest.com]

  J Invest Dermatol 132:2184–2191 PubMedCentral PubMed CrossRef Google Scholar Fischer J, Lefèvre C, Morava E et al (2007) The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. [link.springer.com]

• Dermatitis

  Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. Br J Dermatol. 2013 Jan 5. [Medline]. [emedicine.medscape.com]

  Internal factors include overall health, age, genetics, family history, and a personal history of other medical conditions like atopic dermatitis. [medicinenet.com]

  Ichthyosis vulgaris ( D/D) Xerosis/Asteatotic eczema X-Linked ichthyosis Acquired ichthyosis Atopic dermatitis KID syndrome Netherton syndrome Associations • Atopic dermatitis • Keratosis pilaris 10. [slideshare.net]

  Analyses of FLG mutation frequency and filaggrin expression in isolated ichthyosis vulgaris (IV) and atopic dermatitis-associated IV. Br J Dermatol. 2013;168(6):1335–1338. 6. Wells RS, Kerr CB. [dovepress.com]

  Ichthyosis vulgaris may also occur along with other skin disorders, such as atopic dermatitis or keratosis pilaris. Atopic dermatitis, more commonly known as severe eczema, is known for causing extremely itchy skin rashes. [healthline.com]

• Pruritus

  In fact, ARCI is characterized by visible signs and distressing symptoms such as pruritus, fissures and cracks, limited joints movements, reduced cutaneous sensitivity, water loss, infectious risks, and sometimes severe ectropion and/or eclabion. [link.springer.com]

  Universal erythroderma and pruritus are characteristic, and ectropion of variable degree is usually present. Formerly called congenital ichthyosiform erythroderma (nonbullous type). [medical-dictionary.thefreedictionary.com]

  Hepatomegaly Myopathy Cataracts Neurosensory deafness CGI-58/CG1-58: lipase family Presence of lipid-containing vacuoles in circulating granulocytes (peripheral smear) Sjögren Larsson' syndrome AR Mental retardation Spasticity Macular dystrophy of the retina Pruritus [dermquest.com]

  Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease. Am J Hum Genet 2010; 87 : 274–281. 15. Arin MJ, Oji V, Emmert S et al. [nature.com]

• Skin Rash

  Ichthyosis vulgaris may also occur along with other skin disorders, such as atopic dermatitis or keratosis pilaris. Atopic dermatitis, more commonly known as severe eczema, is known for causing extremely itchy skin rashes. [healthline.com]

Despite treatment, skin symptoms have a major impact on patients' quality of life (QoL). OBJECTIVES: To assess the short- and medium-term efficacy of hydrotherapy on QoL and clinical symptoms of patients with inherited ichthyosis. [ncbi.nlm.nih.gov]

Treatment: Since there is no cure for ichthyosis, treatment consists of managing the symptoms. Most treatment is aimed at keeping the skin moist. In severe cases, medication may be prescribed. [knowyourdisease.com]

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

Treatment for both of these conditions mainly consists of skin moisturizers and possibly topical retinoids. [amboss.com]

: good prognosis; lesions usually disappear during adolescence References: [1] [2] [3] X-linked ichthyosis Epidemiology : 1 in about every 6000 male births Etiology : X-linked recessive trait (transmitted only to males) → inherited deficiency of the [amboss.com]

(Outcomes/Resolutions) The prognosis of X-Linked Recessive Ichthyosis depends on the severity of the signs and symptoms Severe congenital cases have poor prognosis, while mild, acquired cases have a much better prognosis Additional and Relevant Useful [dovemed.com]

The prognosis for an adult with acquired ichthyosis vulgaris depends upon treating the underlying medical condition or discontinuing the triggering medication. [skinsight.com]

Prognosis With continued effective treatment and good advice about skin care, ichthyosis is usually very manageable. Some forms of ichthyosis improve after childhood. [drugs.com]

Ichthyosis vulgaris Epidemiology : most common type of hereditary ichthyosis Etiology : autosomal dominant inheritance ; associated with atopic diseases Clinical presentation Onset usually between 3 and 12 months of age Lesions Generalized fine, white [amboss.com]

Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol. 2003; 4: 81-95. Williams, ML, et al. Genetically Transmitted, Generalized Disorders of Cornification. The Ichthyoses. Dermatol Clin. January 1987; 5(1): 155-78. [rarediseases.org]

(Etiology) X-Linked Recessive Ichthyosis is caused by an abnormality in the development of the part of the skin called epidermis. [dovemed.com]

Background Inherited ichthyoses form part of a large, clinically and etiologically heterogeneous group of Mendelian Disorders of Cornification and typically involve all or most of the tegument [ 1 ]. [link.springer.com]

While these disorders of cutaneous keratinization are multifaceted and varying in etiology, disruption in the stratum corneum with generalized scaling is common to all. 1 – 4 Although not entirely known how each diverse genetic process of the ichthyoses [dovepress.com]

Epidemiology remains poorly described. This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France. METHODS: Capture - recapture method was used for this study. [ncbi.nlm.nih.gov]

The second one was an epidemiological study (144 patients) that used the same capture-recapture method [ 14 ]. [ojrd.biomedcentral.com]

Ichthyosis vulgaris Epidemiology : most common type of hereditary ichthyosis Etiology : autosomal dominant inheritance ; associated with atopic diseases Clinical presentation Onset usually between 3 and 12 months of age Lesions Generalized fine, white [amboss.com]

Epidemiological studies are necessary. A better research of phenotype-genotype correlation, a better evaluation of clinical characteristics, and clinical prognostic factors are essential. [dermquest.com]

Acquired ichthyosis may represent a paraneoplastic syndrome with an underlying cancer, such as undiagnosed multiple myeloma [21] or reflect a serious underlying disorder such as systemic lupus erythematosus. [22] Epidemiology Frequency United States Hereditary [emedicine.medscape.com]

Although the Registry is closed to new enrollment, it is still maintained in order to provide information related to understanding the diagnosis, pathophysiology, and treatment of ichthyoses. [clinicaltrials.gov]

Other Medscape Drugs & Diseases articles on ichthyosis include the following: Pathophysiology Ichthyosis vulgaris is classified as a retention hyperkeratosis. [emedicine.medscape.com]

[…] consider NBIE and LI as "variations of a single but closely related group of disorders." 2 Understanding that, if inherited ichthyoses have been initially classified by clinical features and inheritance patterns, enables a better understanding of the pathophysiology [dermquest.com]

Pathophysiologic basis for growth failure in children with ichthyosis: an evaluation of cutaneous ultrastructure, epidermal permeability barrier function, and energy expenditure. J Pediatr 2004; 145 : 82–92. 34. [nature.com]

There are no guidelines for preventing the development of ichthyosis. [knowyourdisease.com]

There are no guidelines for preventing the development of ichthyosis. [uvahealth.com]

Prevention There is no way to prevent ichthyosis. As with other genetic diseases, there is a risk that children of an affected parent will inherit the gene. [drugs.com]

Early diagnosis is required for immediate management and prevention of fluid-electrolyte balance as well as prevention of secondary infections. [oatext.com]

This can help prevent complications such as skin infections (that may occur frequently otherwise) The prognosis of X-Linked Recessive Ichthyosis depends on the severity of the signs and symptoms. [dovemed.com]