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Inherited Ichthyosis

Genetic ichthyosis


Presentation

  • Readers are guided through the maze that too often lies between the presenting skin complaint and its final diagnosis and treatment.[books.google.de]
  • In Tables 1 and 2, recent advances in the molecular and biological research are presented. These tables include the main inherited ichthyoses but are not exhaustive.[dermquest.com]
  • Estimated prevalence for each clinical form is presented in Table 5.[ojrd.biomedcentral.com]
  • Autosomal dominant ichthyosis, also called as bullous congenital ichthyosiform erythroderma or epidermolytic hyperkeratosis, is generally mild, later onset disease (no presentation as collodion baby) restricted to itching and psychological impact of having[blueprintgenetics.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]
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]
  • 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]
  • Birth- collodion baby Before 3 months of age 3-12 months of age Onset EK Lamellar Ichthyosis X-linked Ichthyosis IV Features Tends to become less severe with age Causes serious disability Good Good Prognosis None None Palms and soles Flexures and face[slideshare.net]
Rigor
  • Incorporation of rigorous quality control steps throughout the workflow of the pipeline ensures the consistency, validity and accuracy of results. Our pipeline is streamlined to maximize sensitivity without sacrificing specificity.[blueprintgenetics.com]
  • Two previous published questionnaires for evaluating the burden were established according to this rigorous methodology of QoL questionnaires: the “Burden of fibromyalgia” and the “Burden of chronic venous disorders” [ 14 , 16 ].[link.springer.com]
  • Rigorous hand wash cannot be over emphasized. Early diagnosis and aggressive treatment of both local and systemic infection is required for better outcome.[oatext.com]
Nail Abnormality
  • abnormalities; the association with predominant extra cutaneous manifestations (neurological symptoms, growth failure, photophobia, keratitis, deafness); family history; and the existence (or not) of consanguinity are essential to determine the best[dermquest.com]
Aspiration
  • The book has established a reputation as a ‘way of learning’ and as an accessible guide to the subject for the aspiring specialist.[books.google.de]
Anosmia
  • […] manifestations Gene responsible / gene product Diagnostic tests 2-a Defect in lipid metabolism 2-a Defect in lipid metabolism 2-a Defect in lipid metabolism 2-a Defect in lipid metabolism X-linked recessive ichthyosis Mental retardation Hypogonadism anosmia[dermquest.com]
Choking
  • […] retardation Spasticity Macular dystrophy of the retina Pruritus FALDH/ Fatty aldehyde dehydrogenase Decreased fatty aldehyde dehydrogenase activity (culture of fibroblasts) Gaucher's syndrome type 2 AR Collodion baby Neurological involvement Hypertonicity Choking[dermquest.com]
Hepatomegaly
  • […] cultures (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[dermquest.com]
Cutaneous Manifestation
  • manifestations (neurological symptoms, growth failure, photophobia, keratitis, deafness); family history; and the existence (or not) of consanguinity are essential to determine the best treatment.[dermquest.com]
  • Both syndromic (with extra-cutaneous manifestations), and non syndromic forms of ichthyoses are described [ 1 , 4 ].[link.springer.com]
  • Cutaneous manifestations of obesity among dermatology patients in a tertiary care center. Indian J Dermatol Venereol Leprol. 2014;80(3):278. 25. Greene AK, Grant FD, Slavin SA. Lower-extremity lymphedema and elevated body-mass index.[dovepress.com]
  • Diversity of cutaneous manifestations. Acta Derm Venereol 1971; 51 : 374–378. 80.[nature.com]
Photosensitivity
  • […] hair with hair-shaft abnormalities (e.g. trichoschisis, trichorrhexis nodosa, ribboning) Most patients have mutation in ERCC2/XPD gene on chromosome 19q13.2-q13.3 Encodes the basal transcription/DNA repair factor IIH Clinical Presentation: Syndromic Photosensitivity[pedclerk.bsd.uchicago.edu]
  • AD/AR 6 14 CERS3 Ichthyosis, congenital, autosomal recessive 9 AR 2 8 CYP4F22 Ichthyosis, congenital AR 45 22 EBP Chondrodysplasia punctata, Male EBP disorder with neurologic defects (MEND) XL 43 90 ERCC2 Xeroderma pigmentosum, Trichothiodystrophy, photosensitive[blueprintgenetics.com]
Photophobia
  • Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described[ncbi.nlm.nih.gov]
  • […] neonatal); the association with marked inflammation (erythroderma or not), hair (hair defect, alopecia, hair shaft defect), or nail abnormalities; the association with predominant extra cutaneous manifestations (neurological symptoms, growth failure, photophobia[dermquest.com]
Strabismus
  • Spasticity Macular dystrophy of the retina Pruritus FALDH/ Fatty aldehyde dehydrogenase Decreased fatty aldehyde dehydrogenase activity (culture of fibroblasts) Gaucher's syndrome type 2 AR Collodion baby Neurological involvement Hypertonicity Choking spells Strabismus[dermquest.com]
Osteopenia
  • Bone mineral density was investigated for 11 of these latter 15 patients, and six of them had osteopenia.[ncbi.nlm.nih.gov]
Anger
  • , Angers, France (7) Dermatology Department, CHU Marseille, Marseille, France (8) Competence Centre for Rare Skin Diseases Dermatology Department, CHU Nantes, Nantes, France References Oji V, Traupe H: Ichthyosis: clinical manifestations and practical[ojrd.biomedcentral.com]
Peripheral Neuropathy
  • neuropathy ataxia PAHX/Phytanol-CoA alpha-hydroxylase Elevation of plasma phytanic acid levels Dorfman Chanarin syndrome AR Hepatomegaly Myopathy Cataracts Neurosensory deafness CGI-58/CG1-58: lipase family Presence of lipid-containing vacuoles in circulating[dermquest.com]
  • Peripheral neuropathy. Cerebellar ataxia. Nerve deafness. ECG changes. 40. KID Syndrome Keratitis-Ichthyosis-Deafness syndrome. Other name : Senter syndrome.[slideshare.net]

Treatment

  • 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]
  • In addition, the elucidation of the molecular mechanisms would permit a better classification of these genetic disorders and better treatment.[dermquest.com]

Prognosis

  • ., creams containing urea or panthenol), topical retinoids Prognosis : : 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[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]
  • […] 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]

Etiology

  • 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]
  • 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]
  • 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]
  • 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

  • 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]
  • 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]
  • 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]
  • 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]
Sex distribution
Age distribution

Pathophysiology

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

Prevention

  • : 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]

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