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    Nonbullous Congenital Ichthyosiform Erythroderma

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    Submitted by: Rita Xu
    (This entry belongs to Entry Collection "MedlinePlus ")

    Definition

    Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a condition that mainly affects the skin.

    1. Introduction

    Many infants with this condition are born with a tight, clear sheath covering their skin called a collodion membrane. Constriction by the membrane may cause the lips and eyelids to be turned out so the inner surface is exposed. The collodion membrane is usually shed during the first few weeks of life. Following shedding of the collodion membrane, the skin is red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive loss of fluids (dehydration), and respiratory problems early in life.

    Some people with NBCIE have thickening of the skin on the palms of the hands and soles of the feet (palmoplantar keratoderma), decreased or absent sweating (anhidrosis), and abnormal nails (nail dystrophy). In severe cases, there is an absence of hair growth (alopecia) in certain areas, often affecting the scalp and eyebrows.

    In individuals with NBCIE, some of the skin problems may improve by adulthood. Life expectancy is normal in people with NBCIE.

    2. Frequency

    NBCIE is estimated to affect 1 in 200,000 to 300,000 individuals in the United States. This condition is more common in Norway, where an estimated 1 in 90,000 people are affected.

    3. Causes

    Mutations in several genes can cause NBCIE. Mutations in the ABCA12, ALOX12B, or ALOXE3 gene are responsible for most of cases of NBCIE. Mutations in other genes are each found in only a small percentage of cases. All of the genes associated with NBCIE provide instructions for making proteins that are found in the outermost layer of the skin (the epidermis). The epidermis forms a protective barrier between the body and its surrounding environment. Gene mutations impair the respective protein's function or structure within the epidermis, which prevents this outermost layer of skin from being an effective barrier before and after birth. The abnormal skin cannot protect against fluid loss (dehydration) or the outside environment, leading to problems controlling body temperature; dry skin; the formation of fine, white scales; and increased risk of infections in people with NBCIE. The skin scales can impair the function of sweat glands under the skin, causing anhidrosis.

    In some people with NBCIE, the cause of the disorder is unknown. Researchers are looking for additional genes that are associated with NBCIE.

    4. Inheritance

    This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

    5. Other Names for This Condition

    • congenital ichthyosiform erythroderma
    • congenital nonbullous ichthyosiform erythroderma
    • NBCIE
    • NBIE
    • NCIE
    • nonbullous ichthyosiform erythroderma

    The entry is from https://medlineplus.gov/genetics/condition/nonbullous-congenital-ichthyosiform-erythroderma

    References

    1. Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, Lim YL, Luu M, Randolph LM, Ginarte M, Fachal L, Rodriguez-Pazos L, Vega A, Kramer D,Yosipovitch G, Vahidnezhad H, Youssefian L, Uitto J, Lifton RP, Paller AS,Milstone LM, Choate KA. Phenotypic spectrum of autosomal recessive congenitalichthyosis due to PNPLA1 mutation. Br J Dermatol. 2017 Jul;177(1):319-322. doi:10.1111/bjd.15570.
    2. Eckl KM, de Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, Traupe H,Preil ML, Martínez F, Smolle J, Harel A, Krieg P, Sprecher E, Hennies HC.Molecular analysis of 250 patients with autosomal recessive congenitalichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity inALOX12B. J Invest Dermatol. 2009 Jun;129(6):1421-8. doi: 10.1038/jid.2008.409.
    3. Eckl KM, Krieg P, Küster W, Traupe H, André F, Wittstruck N, Fürstenberger G, Hennies HC. Mutation spectrum and functional analysis of epidermis-typelipoxygenases in patients with autosomal recessive congenital ichthyosis. HumMutat. 2005 Oct;26(4):351-61.
    4. Kirchmeier P, Zimmer A, Bouadjar B, Rösler B, Fischer J.Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients withAutosomal Recessive Inherited Ichthyosis. Acta Derm Venereol. 2017 Jan4;97(1):102-104. doi: 10.2340/00015555-2510.
    5. Krieg P, Fürstenberger G. The role of lipoxygenases in epidermis. BiochimBiophys Acta. 2014 Mar;1841(3):390-400. doi: 10.1016/j.bbalip.2013.08.005.
    6. Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J. Non-bullouscongentital ichthyosiform erythroderma associated with homozygosity for a novelmissense mutation in an ATP binding domain of ABCA12. Eur J Dermatol. 2012Mar-Apr;22(2):178-81. doi: 10.1684/ejd.2011.1638.
    7. Pigg MH, Bygum A, Gånemo A, Virtanen M, Brandrup F, Zimmer AD, Hotz A,Vahlquist A, Fischer J. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132Patients. Acta Derm Venereol. 2016 Nov 2;96(7):932-937. doi:10.2340/00015555-2418.
    8. Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. J Dermatol. 2016 Mar;43(3):242-51. doi: 10.1111/1346-8138.13243. Review.
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