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

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]

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

• Pain

  Most patients present with collodion membrane at birth and have palmoplantar keratoderma, often with painful fissures, digital contractures, and loss of pulp volume. [malacards.org]

• Sepsis

  The disease course was complicated in most cases by multiple episodes of sepsis and hypernatremic dehydration, as well as 1 instance of transient acute renal failure. clinical synopsis ...linical-synopsis] Clinical synopsis for omim 604777 [omim_resource [bio2rdf.org]

• Inflammation

  "Cytochrome P450 Function and Pharmacological Roles in Inflammation and Cancer". Advances in pharmacology (San Diego, Calif.). Advances in Pharmacology. 74 : 223–62. doi : 10.1016/bs.apha.2015.05.002. ISBN 9780128031193. PMC 4667791. [ipfs.io]

• Pallor

  Short stature Motor delay Spinal rigidity Ventricular escape rhythm Intellectual disability, profound Spastic tetraplegia High myopia Generalized myoclonic seizures Brain atrophy Proximal muscle weakness in upper limbs Delayed myelination Tetraplegia Pallor [mendelian.co]

• 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]

  Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}). [bio2rdf.org]

• Hyperkeratosis

  In half of the cases, a nail dystrophy including ridging, subungual hyperkeratosis, or hypoplasia has been described. [malacards.org]

  Congenital malformation hsa02010 ABC transporters AB CA12 [HSA: 26154 ] [KO: K05646 ] H00734 Autosomal recessive congenital ichthyosis Autosomal recessive congenital ichthyoses comprise a heterogeneous group of skin disorders of hyperkeratosis. [kegg.jp]

• Erythema

  Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005). [malacards.org]

  In LI, the scales are large, adherent, dark, and pigmented with no skin erythema. Overlapping phenotypes may depend on the age of the patient and the region of the body. [diseaseinfosearch.org]

  Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}). [bio2rdf.org]

  Erythema may be very mild and almost invisible. Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by Eckl et al., 2005 ). [mendelian.co]

  Diffuse desquamation and erythema of the scalp were also observed. [kundoc.com]

• Anhidrosis

  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]

  Some affected persons exhibit scarring alopecia, and many have secondary anhidrosis (summary by {2:Eckl et al., 2005}). [bio2rdf.org]

• Suggestibility

  Sample Preparation We suggest pre-experimenting with neat (undiluted) samples, 1:2 or 1:4 dilutions. Please avoid diluting your samples more than 1:10 as it would exceed the dilution limit set for this kit. [mybiosource.com]

  The affected individuals shared 2 compound core haplotypes, suggesting compound heterozygosity. {8:Virolainen et al. (2000)} stated that this was the first locus for a nonlamellar, nonerythrodermic form of ARCI. [bio2rdf.org]

  Our observations suggest that vitamin D may be considered as an alternative therapy in younger children with congenital ichthyosis and vitamin D deficiency, especially in pigmented skin types. [pediatrics.aappublications.org]

• Lymphocytic Infiltrate

  A normal or slightly prominent granular layer and a mild dermal perivascular lymphocytic infiltrate with dilation of dermal capillaries were observed. {6:Lugassy et al. (2008)} reported a large consanguineous Israeli Druze family in which 4 affected individuals [bio2rdf.org]

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]

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 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]