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Autosomal Recessive Congenital Ichthyosis Type 5
Autosomal Recessive Congenital Ichthyosis 5

Presentation

Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs. [uniprot.org]

These disorders are limited to skin, with approximately two-thirds of patients presenting severe symptoms. [malacards.org]

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At birth the condition presented as collodion baby. [kundoc.com]

Skin

  • Alopecia

    Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). [malacards.org]

    Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {14:Eckl et al., 2005}). [diseaseinfosearch.org]

    Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005 ). [mendelian.co]

    Tautness of facial skin commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat intolerance and recurrent ear infections. Belongs to the cytochrome P450 family. [mybiosource.com]

Treatment

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

Because this child had serum 25(OH)D > 150 ng/mL, on day 10, we stopped all treatment for the next 3 weeks, and sustained clinical response was noticed even at 1 month. [pediatrics.aappublications.org]

In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects. [actasdermo.org]

In this article, we review the current knowledge on ARCI, with a focus on clinical, histological, ultrastructural, genetic, molecular, and treatment-related aspects. Copyright © 2011 Elsevier España, S.L. and AEDV. All rights reserved. [ncbi.nlm.nih.gov]

Prognosis

All these features are important with respect to the prognosis in our patients and to correct genetic counselling. Acknowledgments We would like to offer our particular thanks to Dr. [kundoc.com]

Prevention

Prevention genetics. Clinical DNA testing [Internet]. 2014. Available from: www.preventiongenetics.com. 20. GeneDx. GeneDx test catalog [Internet]. 2014. Available from: www.genedx.com/test-catalog/available-tests/. 21. [link.springer.com]

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