Postnatal 2- and 3-Dimensional Sonography of the Skin and Nail in Congenital Autosomal Recessive Ichthyosis Correlated With Cutaneous Histologic Findings

Wortsman, Ximena; Araníbar, Ligia; Morales, Claudia

doi:10.7863/jum.2011.30.10.1437

Cited by 12 publications

(5 citation statements)

References 12 publications

(11 reference statements)

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“…This included dark‐brown plate‐like scales on the trunk, face, scalp, and flexor areas, ectropion of eyelids, alopecia, reduced sweating ability (hypohidrosis), and erythema. However, photophobia, mixed dentition, and blepharitis reported in a few patients of LI were not found in our patients. Affected members in the other two families, B and C, exhibited erythroderma, hypohidrosis, and severe heat intolerance.…”

Section: Discussioncontrasting

confidence: 83%

“…Lipoxygenase‐3 is non‐heme iron‐containing dioxygenase highly expressed in a suprabasal epidermis. This enzyme is involved in lipid metabolism of lamellar granule content or intercellular lipid layer by acting as hydroperoxide isomerase (epoxyalcohol synthase) using 12R‐HPETE product of ALOX12B into a specific epoxy alcohol product 8R‐hydroxy‐11R, 12R‐epoxyeicosa‐5Z, 9E,14Z‐trienoic acid . The pathomechanism involved behind the mutations in the ALOXE3 gene is the disruption of the normal permeability barrier of the skin, which might be due to the abnormal lipid metabolism in the keratinocytes …”

Section: Discussionmentioning

confidence: 99%

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Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

et al. 2015

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Background Ichthyoses are clinically characterized by scaling or hyperkeratosis of the skin or both. It can be an isolated condition limited to the skin or appear secondarily with involvement of other cutaneous or systemic abnormalities. Methods The present study investigated clinical and molecular characterization of three consanguineous families (A, B, C) segregating two different forms of autosomal recessive congenital ichthyosis (ARCI). Linkage in three consanguineous families (A, B, C) segregating two different forms of ARCI was searched by typing microsatellite and single nucleotide polymorphism marker analysis. Sequencing of the two genes TGM1 and ALOXE3 was performed by the dideoxy chain termination method. Results Genome-wide linkage analysis established linkage in family A to TGM1 gene on chromosome 14q11 and in families B and C to ALOXE3 gene on chromosome 17p13. Subsequently, sequencing of these genes using samples from affected family members led to the identification of three novel mutations: a missense variant p.Trp455Arg in TGM1 (family A); a nonsense variant p.Arg140* in ALOXE3 (family B); and a complex rearrangement in ALOXE3 (family C). Conclusion The present study further extends the spectrum of mutations in the two genes involved in causing ARCI. Characterizing the clinical spectrum resulting from mutations in the TGM1 and ALOXE3 genes will improve diagnosis and may direct clinical care of the family members.

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Section: Discussioncontrasting

confidence: 83%

Section: Discussionmentioning

confidence: 99%

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

et al. 2015

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“…On sonography, thickening of the nail plates with loss of the interplate space and thickening of the epidermal layer in the periungual region can be detected [ 6,23 ] (Fig. 18.13 ).…”

Section: Ichthyosismentioning

confidence: 99%

Sonography of the Nail

Wortsman

2013

Dermatologic Ultrasound With Clinical and Histologic Correlations

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“…Fixed flexion of the extremities, short digits and an open mouth were also observed by two-dimensional sonography. Such characteristics are typical of fetal HI (15).…”

Section: Discussionmentioning

confidence: 84%

“…Sonography is an important method of diagnosing of HI, although it is unable to conclusively differentiate fetal HI from other fetal diseases, including fetal macroglossia and congenital tumor-like fetus angeioma (15). The development of the latter conditions is detected by sonography as a marked enlargement of the tongue, with extension of the tongue from the mouth, causing opening of the mouth itself.…”

Section: Discussionmentioning

confidence: 99%

Two successive cases of fetal harlequin ichthyosis: A case report

et al. 2018

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Harlequin ichthyosis (HI) is a genetic skin disorder characterized by thickening and splitting of the skin. In fetuses presenting with the disorder, the mortality rate is markedly high. A number of fetal HI cases have been documented. The present study reports a case of a pregnant woman who underwent two successive pregnancies at the ages of 35 and 36, respectively, with both fetuses presenting with HI. The first fetus was delivered alive though succumbed shortly after birth, while the second fetus was stillborn and birthed by induced labor. The fetuses exhibited typical features of fetal HI, including thick, platelike scaling and fissuring, which act as a nidus for infection. The present study is the first to report two cases of fetal HI from successive pregnancies in the same woman. Improved understanding of the genetic basis of HI indicates that genetic screening for candidate gene mutations related to HI, particularly mutations in the adenosine triphosphate binding-cassette transporter ABCA12, may prove beneficial in prenatal diagnosis. Establishing methods for early diagnosis of fetal HI may reduce the physical and mental distress to parents and relatives.

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Postnatal 2- and 3-Dimensional Sonography of the Skin and Nail in Congenital Autosomal Recessive Ichthyosis Correlated With Cutaneous Histologic Findings

Cited by 12 publications

References 12 publications

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

Novel mutations in the genes TGM1 and ALOXE3 underlying autosomal recessive congenital ichthyosis

Sonography of the Nail

Two successive cases of fetal harlequin ichthyosis: A case report

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