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Exfoliative Ichthyosis

Autosomal Recessive Exfoliative Ichthyosis


Presentation

  • We present a 25‐year‐old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmoplantar peeling of the skin, aggravated by exposure to water and by occlusion.[doi.org]
  • We present a 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmoplantar peeling of the skin, aggravated by exposure to water and by occlusion.[ncbi.nlm.nih.gov]
  • […] genetics}, year {2011}, volume {89 4}, pages { 564-71 } } Diana Claire Blaydon, Daniela Nitoiu, 11 authors David P Kelsell Published in American journal of human genetics 2011 DOI: 10.1016/j.ajhg.2011.09.001 Autosomal-recessive exfoliative ichthyosis presents[semanticscholar.org]
Turkish
  • We found two homozygous mutations, a splice-site and a nonsense mutation, in two consanguineous families of Bedouin and Turkish origin.[ncbi.nlm.nih.gov]
  • We found two homozygous mutations, a splice-sitein and Turkish origin. Electron microscopy of skin biopsies frome basal and lower suprabasal layers.[docslide.com.br]
Epilepsy
  • Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science. 1996; 271 :1731–1734. [ PubMed ] [ Google Scholar ] 9.[ncbi.nlm.nih.gov]
  • Mutations in the gene encodingcystatin B in progressive myoclonus epilepsy (EPM1). Science271, 17311734.9. Toomes, C., James, J., Wood, A.J., Wu, C.L., McCormick, D.,Lench, N., Hewitt, C., Moynihan, L., Roberts, E., Woods,C.G., et al. (1999).[docslide.com.br]
Periodontitis
  • Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat. Genet. 1999; 23 :421–424. [ PubMed ] [ Google Scholar ] 10. Steven A.C., Steinert P.M.[ncbi.nlm.nih.gov]
  • Loss-of-function mutations in thecathepsin C gene result in periodontal disease and palmoplan-tar keratosis. Nat. Genet. 23, 421424.10. Steven, A.C., and Steinert, P.M. (1994).[docslide.com.br]
Hyperhidrosis
  • We present a 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmoplantar peeling of the skin, aggravated by exposure to water and by occlusion.[ncbi.nlm.nih.gov]
  • We present a 25‐year‐old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmoplantar peeling of the skin, aggravated by exposure to water and by occlusion.[doi.org]
Coarseness of the Skin
  • […] peelingof nonerythematous skin on the palms and soles, which isexacerbated by excessive moisture (aquagenic) and minortrauma.[docslide.com.br]
Cutaneous Manifestation
  • The cutaneous manifestations share features of ichthyosis bullosa of Siemens (IBS) and peeling skin syndrome (PSS). Histologic examination revealed orthokeratosis, a thickened granular cell layer, and spongiosis without epidermolytic hyperkeratosis.[ncbi.nlm.nih.gov]
Suggestibility
  • We therefore suggest that it represents a new form of exfoliative ichthyosis.[ncbi.nlm.nih.gov]
  • We suggest that this type of ichthyosis exfoliativa inherited as an autosomal dominant trait represents a new and distinct entity.[semanticscholar.org]
  • Access full-color images and more than 90 online-only topics at Expert Consult, as well as EBMs, Suggested Reading, Patient Teaching Guides, and additional algorithms.[books.google.com]
Agitation
  • After all monolayers have detached as an intact sheet, they were subjected to agitation by inversion and all fragments obtained were counted under a dissection microscope.[ncbi.nlm.nih.gov]
  • After all monolayers have detached as an intactsheet, they were subjected to agitation by inversion andall fragments obtained were counted under a dissectionmicroscope.[docslide.com.br]
Hyperactivity
  • Spink5-deficient mice mimic Netherton syndrome through degradation of desmoglein 1 by epidermal protease hyperactivity. Nat. Genet. 2005; 37 :56–65. [ PubMed ] [ Google Scholar ] 24.[ncbi.nlm.nih.gov]
  • This is also in contrast to Nethertonssyndrome (MIM 256500), where the loss of a proteaseinhibitor, LEKTI, leads to hyperactivity of kallikrein 5and increased corneodesmosomal degradation, resultingin ichthyosiform erythroderma and atopic manifesta-tions[docslide.com.br]
Meningism
  • Ferri’s popular "5 books in 1" format provides quick guidance on short QT syndrome, microscopic polyangiitis, fungal meningitis, and much more. This medical reference makes the answers you need even easier to find - anytime, anywhere.[books.google.com]

Treatment

  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • We have engineered KB105, a novel replication-defective HSV-1 gene therapy vector encoding an optimized TGM1 transgene, amenable to topical treatment, for the molecular correction of ARCI.[medworm.com]
  • Your response to the treatment; iii. Any adverse effects of the treatment; and iv. The expected duration of the treatment. b.[ssa.gov]
  • […] the urea treatment performing better than glycerol-based treatments ( a commonly-recommended ingredient to treat ichthyosis).[viabuff.com]
  • Anti-drug antibodies in psoriasis: a critical evaluation of clinical significance and impact on treatment response. Expert Rev Clin Immunol. 2013 Oct. 9(10):949-58. [Medline].[emedicine.medscape.com]

Prognosis

  • Overall prognosis was poor in patients with immunodeficiency.[astrocyte.in]
  • The prognosis of this disorder is extremely poor, as patients die in infancy. Most deaths are due to recurrent infection, acidosis and critical bleeding [ 2 ].[casereports.in]
  • Clinical Course, Prognosis and Sequelae Even though exfoliative dermatitis is a complex disorder involving many factors, the underlying disease is usually the key determinant of the course and prognosis.[aafp.org]
  • 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]
  • Age of onset primarily is related to etiology. [33, 34] Prognosis The prognosis of exfoliative dermatitis depends largely on underlying etiology.[emedicine.medscape.com]

Etiology

  • No other clinical or laboratory findings were associated with any specific etiology.[astrocyte.in]
  • 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]
  • Age of onset primarily is related to etiology. [33, 34] Prognosis The prognosis of exfoliative dermatitis depends largely on underlying etiology.[emedicine.medscape.com]
  • Although the etiology is often unknown, exfoliative dermatitis may be the result of a drug reaction or an underlying malignancy.[aafp.org]
  • Etiology Acral PSS: APSS is most commonly due to a mutation in TGM5, which encodes for transglutaminase 5.[dermatologyadvisor.com]

Epidemiology

  • Synonym(s): - Autosomal recessive exfoliative ichthyosis - Ichthyosis exfoliativa Classification (Orphanet): - Rare genetic disease - Rare skin disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • Relevant External Links for CSTA Genetic Association Database (GAD) CSTA Human Genome Epidemiology (HuGE) Navigator CSTA Atlas of Genetics and Cytogenetics in Oncology and Haematology: CSTA No data available for Genatlas for CSTA Gene Association analysis[genecards.org]
  • Strontium ranelate [29] Sulfadoxine Sulfamethoxazole Sulfasalazine Sulfisoxazole Sulfonamides Sulfonylureas Sulindac Terbinafine [30] Tetracycline Tobramycin Tocilizumab [31] Trazodone Trifluoperazine Trimethoprim Vancomycin Verapamil Warfarin [32] Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology An increased skin blood perfusion occurs in exfoliative dermatitis (ED) that results in temperature dysregulation (resulting in heat loss and hypothermia) and possible high-output cardiac failure.[emedicine.medscape.com]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Prevention Anhidrosis often can't be prevented, but serious heat-related illnesses can. To stay safe: Wear loose, light clothing when it's warm. Stay cool indoors on hot days. Use a spray bottle containing water to cool yourself.[mayoclinic.org]
  • These listings are only examples of common skin disorders that we consider severe enough to prevent you from engaging in any gainful activity.[ssa.gov]
  • Increased humidity of the ambient air is also helpful in preventing skin dryness.[encyclopedia.com]
  • They were informed about preventive measurements: avoid heat and humidity by using shoes made from breathing textile materials and leather as well as to use topical emollient application.[karger.com]

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