691 results match your criteria Ichthyosis X-Linked


[Infantile spasms].

Ugeskr Laeger 2020 Apr;182(17)

Ichthyosis - also called fish scale disease - is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists. Ichthyosis vulgaris (IV), is the most common type, affecting 1:250 individuals. Read More

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[Ichthyosis vulgaris].

Ugeskr Laeger 2020 04;182(17)

Ichthyosis – also called fish scale disease – is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists. Ichthyosis vulgaris (IV), is the most common type, affecting 1:250 individuals. Read More

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X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion.

Pediatr Neurol 2020 Apr 13. Epub 2020 Apr 13.

Department of Medical Imaging, Montreal Children's Hospital, McGill University Health Centre, Montreal, Quebec, Canada.

Background: The genetic basis for familial focal epilepsy is poorly understood, with most of the known genetic causes occurring via autosomal dominant inheritance. X-linked familial focal epilepsy has not been previously reported.

Methods: We reviewed our research database for cases of X-linked focal epilepsy. Read More

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http://dx.doi.org/10.1016/j.pediatrneurol.2020.02.008DOI Listing

Is X-linked Recessive Ichthyosis a High Risk for Basal Cell Carcinoma?

Yonago Acta Med 2020 Feb 20;63(1):92-94. Epub 2020 Feb 20.

Division of Dermatology, Department of Medicine of Sensory and Motor Organs, School of Medicine, Tottori University Faculty of Medicine, Yonago 683-8503, Japan.

We report a case of X-linked recessive ichthyosis with basal cell carcinoma. An 86-year-old man was referred to our department for evaluation of a 1-year history of an ulcer on his left leg. He had suffered from dry skin with scales on his entire body since childhood. Read More

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http://dx.doi.org/10.33160/yam.2020.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028536PMC
February 2020

Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Acta Derm Venereol 2020 Mar;100(7):adv00095

The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms. In the non-syndromic forms, the clinical manifestations are limited to the cutaneous structures while the syndromic ones are associated with a spectrum of extracutaneous manifestations. The inheritance in different families can be autosomal dominant, autosomal recessive or either X-linked dominant or recessive. Read More

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http://dx.doi.org/10.2340/00015555-3431DOI Listing
March 2020
3.025 Impact Factor

Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank.

J Med Genet 2020 Mar 5. Epub 2020 Mar 5.

School of Psychology, Cardiff University, Cardiff, UK

Background: X-linked ichthyosis (XLI) is an uncommon dermatological condition resulting from a deficiency of the enzyme steroid sulfatase (STS), often caused by X-linked deletions spanning . Some medical comorbidities have been identified in XLI cases, but small samples of relatively young patients has limited this. is highly expressed in subcortical brain structures, and males with XLI and female deletion carriers appear at increased risk of developmental/mood disorders and associated traits; the neurocognitive basis of these findings has not been examined. Read More

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http://dx.doi.org/10.1136/jmedgenet-2019-106676DOI Listing

Ichthyoses in everyday practice: management of a rare group of diseases.

J Dtsch Dermatol Ges 2020 Mar 2;18(3):225-243. Epub 2020 Mar 2.

Department of Dermatology and Venereology, Münster University Medical Center, Münster, Germany.

Ichthyoses comprise a heterogeneous group of hereditary disorders of keratinization characterized by a highly varied clinical picture. A distinction is made between common hereditary ichthyoses (ichthyosis vulgaris and X-linked ichthyosis), which usually manifest themselves in the first year of life, and rare, sometimes severe congenital ichthyoses. Patients with very mild symptoms often do not even realize they have ichthyosis. Read More

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http://dx.doi.org/10.1111/ddg.14049DOI Listing

A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients.

BMC Med Genet 2020 01 31;21(1):20. Epub 2020 Jan 31.

Faculty of Allied and Health Sciences, Imperial College of Business Studies, Lahore, Pakistan.

Background: X-linked ichthyosis (XLI; OMIM# 308100) is a recessive keratinization disorder characterized by the presence of dark brown, polygonal, adherent scales on different parts of the body surface. It almost exclusively affects males and the estimated prevalence ranges from 1:2000-6000 in males worldwide. Extracutaneous manifestations are frequent including corneal opacities, cryptorchidism, neuropsychiatric symptoms or others. Read More

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http://dx.doi.org/10.1186/s12881-020-0964-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6995215PMC
January 2020
2.083 Impact Factor

X-linked and autosomal dominant forms of the ichthyosis in coinheritance.

Drug Metab Pers Ther 2019 12;34(4)

Saint Petersburg City Hospital No. 40, Saint Petersburg, Russian Federation.

According to modern classification, there are two forms of inherited ichthyoses: syndromic and non-syndromic, each of them consists of more than ten different nosologies. The commonest types of the ichthyosis are X-linked recessive (prevalence 1/2000-6000 in men) and autosomal dominant, or ichthyosis vulgaris with incomplete penetrance (1/250-1000). The X-linked form is associated with mutations in steroid sulfatase STS gene, it is noteworthy that there is a full deletion of the gene in 90% of cases. Read More

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http://dx.doi.org/10.1515/dmpt-2019-0008DOI Listing
December 2019

Next-generation sequencing through multi-gene panel testing for diagnosis of hereditary ichthyosis in Chinese.

Clin Genet 2020 May 9;97(5):770-778. Epub 2020 Feb 9.

Department of Dermatology, Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.

Inherited ichthyoses are a heterogeneous group of rare disorders related to over 40 genes. To identify underlying molecular causes in inherited ichthyosis among Chinese and to correlate genotype and phenotype, 35 probands clinically diagnosed inherited ichthyosis, except ichthyosis vulgaris and X-linked ichthyosis, were included in our study. Molecular analysis was performed using next-generation sequencing (NGS) through multi-gene panel testing targeting all ichthyosis-related genes. Read More

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http://dx.doi.org/10.1111/cge.13704DOI Listing

X-linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations.

J Clin Lab Anal 2020 May 16;34(5):e23201. Epub 2020 Jan 16.

Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital, Affiliated Hospital of Fujian Medical University, Fuzhou, China.

Background: X-linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin. Steroid sulfatase (STS) gene, which is located at chromosome Xp22.31, has been identified as the pathogenic gene of XLI. Read More

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http://dx.doi.org/10.1002/jcla.23201DOI Listing

Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Hum Genet 2019 Dec 20;138(11-12):1409-1417. Epub 2019 Nov 20.

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA.

Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked Pelizaeus-Merzbacher disease (PMD). PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance imaging (MRI). We identified a 12-year-old Caucasian/Hispanic male with the classical clinical characteristics of PMLD with lack of myelination of the subcortical white matter, and absence of the splenium of corpus callosum. Read More

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http://dx.doi.org/10.1007/s00439-019-02077-7DOI Listing
December 2019
4.824 Impact Factor

Spectrum of ichthyoses in an Austrian ichthyosis cohort from 2004 to 2017.

J Dtsch Dermatol Ges 2020 Jan 23;18(1):17-25. Epub 2019 Oct 23.

Department of Dermatology, Venereology and Allergology, Medical University of Innsbruck, Innsbruck, Austria.

Background: Ichthyoses are a heterogeneous disease group, which makes clinical classification challenging. An ichthyosis cohort at a center for genodermatoses is presented in detail.

Patients And Methods: Patients with clinically and/or genetically confirmed ichthyosis seen from 2004 to 2017 and listed in a database were included. Read More

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http://dx.doi.org/10.1111/ddg.13968DOI Listing
January 2020
4 Reads

Novel CARD9 mutation in a patient with chronic invasive dermatophyte infection (tinea profunda).

J Cutan Pathol 2020 Feb 29;47(2):166-170. Epub 2019 Oct 29.

Department of Dermatology, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.

Caspase Recruitment Domain Family Member 9 (CARD9) is an adaptor molecule that drives antifungal activity of macrophages and neutrophils in the skin. Autosomal recessive loss-of-function mutations in CARD9 confer increased susceptibility to invasive disease with select fungi in non-immunosuppressed patients. We report on a patient with X-linked ichthyosis complicated by chronic cutaneous invasive dermatophyte infection. Read More

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http://dx.doi.org/10.1111/cup.13574DOI Listing
February 2020
2 Reads

CHILD syndrome: successful treatment of skin lesions with topical lovastatin and cholesterol lotion.

An Bras Dermatol 2019 Jul 26;94(3):341-343. Epub 2019 Jul 26.

Department of Dermatology, Hospital das Clínica, Faculdade de Medicina, Universidade de São Paulo, São Paulo, SP, Brazil.

CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed. Read More

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http://dx.doi.org/10.1590/abd1806-4841.20198789DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6668949PMC
July 2019
2 Reads

[Erythroderma revealing IPEX syndrome].

Ann Dermatol Venereol 2019 Dec 21;146(12):807-811. Epub 2019 Jun 21.

Service de dermatologie, université Clermont-Auvergne, CHU de Clermont-Ferrand, 63000 Clermont-Ferrand, France.

Background: Primary immunodeficiencies are rare and frequently life-threatening conditions in the first year of life. They may present with isolated skin manifestations and the absence of other clinical signs may delay diagnosis and management of the disease. Herein we describe a case of IPEX syndrome (Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked syndrome) that illustrates this situation. Read More

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http://dx.doi.org/10.1016/j.annder.2019.04.026DOI Listing
December 2019
25 Reads

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.

Mol Genet Genomic Med 2019 08 18;7(8):e812. Epub 2019 Jun 18.

Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Background: The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X-linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non-scarring alopecia with variable severities. IFAP syndrome results from mutations in the gene encoding the membrane-bound transcription factor peptidase, site 2 (MBTPS2).

Methods: We present an 11-year-old male with typical clinical features of IFAP syndrome, including diffuse follicular hyperkeratosis, alopecia, photophobia, psoriasiform plaques, short statue, nail dystrophy, mental retardation, and seizures. Read More

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http://dx.doi.org/10.1002/mgg3.812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687642PMC
August 2019
2 Reads

Identification of NSDHL mutations associated with CHILD syndrome in oral verruciform xanthoma.

Oral Surg Oral Med Oral Pathol Oral Radiol 2019 Jul 23;128(1):60-69. Epub 2019 Feb 23.

Departments of Oral and Craniofacial Health Sciences and Dental Ecology, UNC School of Dentistry, Chapel Hill, NC, USA; Lineberger Comprehensive Cancer Center, UNC School of Medicine, Chapel Hill, NC, USA. Electronic address:

Objective: The aim of this study was to perform a systematic analysis of the nicotinamide adenine dinucleotide phosphate (NAD[P])-dependent steroid dehydrogenase-like (NSDHL) gene in cases of oral verruciform xanthoma (VX) and to test for the presence of mutations associated with congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome.

Study Design: DNA was extracted from archived paraffin-embedded tissue of oral VX and control cases. Polymerase chain reaction (PCR) was then used to screen exons 4 and 6 of the NSDHL gene for the presence of 4 known germline mutations associated with CHILD syndrome and 1 somatic mutation previously identified in VX lesions with no known association with CHILD syndrome. Read More

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http://dx.doi.org/10.1016/j.oooo.2019.02.015DOI Listing
July 2019
10 Reads

Basket-weave structure in the stratum corneum is an important factor for maintaining the physiological properties of human skin as studied using reconstructed human epidermis and tape stripping of human cheek skin.

Br J Dermatol 2020 Feb 25;182(2):364-372. Epub 2019 Aug 25.

Department of Dermatology, Kizawa Memorial Hospital, 590 Shimokobi, Kobi, Minokamo, Gifu, 505-8503, Japan.

Background: The normal stratum corneum (SC) has an upper basket-weave (BW) pattern layer and a lower compact layer. The transition from compact to BW SC is well associated with a transition from diffuse to peripheral distributions of corneodesmosomes (CDs). The loss of transition from compact SC to BW SC appears to cause structural and barrier-function impairments. Read More

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http://dx.doi.org/10.1111/bjd.18123DOI Listing
February 2020
4 Reads

Burden of itch in ichthyosis: a multicentre study in 94 patients.

J Eur Acad Dermatol Venereol 2019 Nov 6;33(11):2095-2100. Epub 2019 May 6.

Department of Dermatology, University Hospitals Leuven, Leuven, Belgium.

Background: From clinical experience, we know that itch is a major concern for many ichthyosis patients. Nonetheless, no previous studies specifically addressed the issue of itch in ichthyosis.

Objective: The objective of this study was to specifically address the burden of itch and all its dimensions in ichthyosis patients. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/jdv.15613
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http://dx.doi.org/10.1111/jdv.15613DOI Listing
November 2019
28 Reads

Inherited ichthyoses: molecular causes of the disease in Czech patients.

Orphanet J Rare Dis 2019 05 2;14(1):92. Epub 2019 May 2.

Centre of Molecular Biology and Gene Therapy, University Hospital Brno and Masaryk University, Jihlavská 20, 625 00, Brno, Czech Republic.

Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvement, and by inheritance. We present the genetic analysis results of probands with X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis, and a patient with Netherton syndrome. Genetic diagnostics was complemented by in silico missense variant analysis based on 3D protein structures and commonly used prediction programs to compare the yields of these two approaches to each other. Read More

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1076-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498588PMC
May 2019
26 Reads

Male CDPX2 patient with EBP mosaicism and asymmetrically lateralized skin lesions with strict midline demarcation.

Am J Med Genet A 2019 07 29;179(7):1315-1318. Epub 2019 Apr 29.

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.

X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome, CDPX2) caused by mutations in the emopamil-binding protein (EBP) gene and congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome caused by mutation in the NAD(P)H steroid dehydrogenase-like (NSDHL) gene are rare, typically male lethal disorders. CDPX2 skin lesions are characterized by transient severe congenital ichthyosis following the lines of Blaschko, whereas in CHILD syndrome, the lesions show striking lateralization. Here, we report a male CDPX2 patient with postzygotic mosaicism of the EBP gene presenting with lateralized skin lesions with strict midline demarcation as seen in CHILD syndrome (although this diagnosis was ruled out based on analysis of NSDHL), but also partly distributed along Blaschko's lines as seen in CDPX2. Read More

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http://dx.doi.org/10.1002/ajmg.a.61159DOI Listing
July 2019
8 Reads

Long and very long lamellar phases in model stratum corneum lipid membranes.

J Lipid Res 2019 05 18;60(5):963-971. Epub 2019 Mar 18.

Skin Barrier Research Group, Faculty of Pharmacy in Hradec Králové, Charles University, 500 05 Hradec Králové, Czech Republic.

Membrane models of the stratum corneum (SC) lipid barrier, either healthy or affected by recessive X-linked ichthyosis, constructed from ceramide [Cer; nonhydroxyacyl sphingosine -tetracosanoyl-d--sphingosine (CerNS24) alone or with omega-acylceramide -(32-linoleyloxy)dotriacontanoyl-d--sphingosine (CerEOS)], FFAs(C16-24), cholesterol (Chol), and sodium cholesteryl sulfate (CholS) were investigated. X-ray diffraction (XRD) revealed a previously unreported polymorphism of the membranes. In the absence of CerEOS, the membranes formed a short lamellar phase (SLP; the repeat distance = 5. Read More

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http://www.jlr.org/lookup/doi/10.1194/jlr.M090977
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http://dx.doi.org/10.1194/jlr.M090977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6495169PMC
May 2019
5 Reads

Behavioural and psychiatric phenotypes in female carriers of genetic mutations associated with X-linked ichthyosis.

PLoS One 2019 15;14(2):e0212330. Epub 2019 Feb 15.

MRC Centre for Neuropsychiatric Genetics and Genomics and Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, United Kingdom.

X-linked ichthyosis (XLI) is a rare X-linked dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). STS is normally expressed in the brain, and males with XLI exhibit personality differences from males in the general population, and are at increased risk of developmental and mood disorders. As the STS gene escapes X-inactivation, female carriers of XLI-associated genetic mutations have reduced STS expression/activity relative to non-carrier females, and could manifest similar behavioural phenotypes to males with XLI. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212330PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377116PMC
November 2019
4 Reads

Coalescing hyperkeratotic plaques and papules.

Cutis 2018 Dec;102(6):402;414;415

Department of Dermatology, University of Illinois at Chicago, USA.

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December 2018
7 Reads

PIBIDS syndrome in two Brazilian siblings.

BMJ Case Rep 2018 Dec 22;11(1). Epub 2018 Dec 22.

Department of Genetics, Universidade Federal do Parana, Curitiba, Brazil.

Trichothiodystrophy is a rare condition associated with autosomal recessive or X-linked dominant variants in the ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A or GTF2E2 genes. The genes associated to photosensitive trichothiodystrophy encode subunits of transcription factor IIH, involved in the nucleotide excision repair pathway. The disease is characterised by cysteine-deficient brittle hair along with other neuroectodermal abnormalities. Read More

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http://dx.doi.org/10.1136/bcr-2017-223744DOI Listing
December 2018
20 Reads

Placental steroid sulphatase deficiency: an approach to antenatal care and delivery.

Ann Saudi Med 2018 Nov-Dec;38(6):445-449

Frieda Elsje Dreyer, Department of Obstetrics and Gynaecology,, Sunderland Royal Hospital,, Sunderland SR4 7TP, United Kingdom, T: +44 0191 565 6256, ORCID: http://orcid.org/0000-0002.0997-9919.

Placental steroid sulphatase deficiency (SSD) is an X-linked inborn error of metabolism. Congenital X-linked ichthyosis (XLI) is a genetic disorder of keratinisation caused by steroid sulphatase (STS) deficiency, which results in a scaling skin condition in male infants shortly after birth. It may be associated with failed induction of labor and prolonged labor leading to cesarean delivery due to 'cervical dystocia'. Read More

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http://dx.doi.org/10.5144/0256-4947.2018.445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6302985PMC
March 2019
5 Reads

Mild clinical presentation of a patient with a mutation in the NSDHL gene.

Clin Exp Dermatol 2019 Jun 28;44(4):456-458. Epub 2018 Nov 28.

Bristol Dermatology Department, Bristol Royal Infirmary, Bristol, UK.

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http://dx.doi.org/10.1111/ced.13845DOI Listing

Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome.

Endocrinol Diabetes Metab Case Rep 2017 Sep 28;2017. Epub 2017 Sep 28.

Endocrinology Department, Parc Taulí University Hospital, Sabadell, Barcelona, Spain.

Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic syndrome can develop due to longstanding untreated hypogonadism. Kallmann syndrome affects 1 in 10 000 men and 1 in 50 000 women. Defects in 17 genes, including KAL1, have been implicated. Read More

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https://edm.bioscientifica.com/view/journals/edm/2017/1/EDM1
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http://dx.doi.org/10.1530/EDM-17-0083DOI Listing
September 2017
43 Reads

The Belgian MicroArray Prenatal (BEMAPRE) database: A systematic nationwide repository of fetal genomic aberrations.

Prenat Diagn 2018 12 14;38(13):1120-1128. Epub 2018 Nov 14.

Center for Medical Genetics, Universiteit Antwerpen, Antwerp, Belgium.

Objective: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. Read More

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http://dx.doi.org/10.1002/pd.5373DOI Listing
December 2018
20 Reads

Revealing the mysteries of X-linked recessive ichthyosis.

Authors:
H Traupe

Br J Dermatol 2018 10;179(4):821-822

Department of Dermatology, University Hospital of Münster, Münster, Germany.

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http://dx.doi.org/10.1111/bjd.16821DOI Listing
October 2018
2 Reads

A novel missense mutation of the STS gene in two siblings with X-linked ichthyosis, complicated by short stature, bone density reduction, epilepsy, and cryptorchidism.

Clin Exp Dermatol 2019 01 16;44(1):78-79. Epub 2018 Sep 16.

Department of Dermatology, Osaka City University Graduate School of Medicine, Osaka, Japan.

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http://doi.wiley.com/10.1111/ced.13741
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http://dx.doi.org/10.1111/ced.13741DOI Listing
January 2019
8 Reads

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

Eur J Hum Genet 2018 12 22;26(12):1784-1790. Epub 2018 Aug 22.

Service de génétique, CHU de Poitiers, Poitiers, France.

X-linked dominant chondrodysplasia punctata (CDPX2 or Conradi-Hünermann-Happle syndrome, MIM #302960) is caused by mutations in the EBP gene. Affected female patients present with Blaschkolinear ichthyosis, coarse hair or alopecia, short stature, and normal psychomotor development. The disease is usually lethal in boys. Read More

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http://dx.doi.org/10.1038/s41431-018-0217-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6244079PMC
December 2018
22 Reads

Exacerbation of ichthyosis vulgaris phenotype by co-inheritance of STS and FLG mutations in a Chinese family with ichthyosis: a case report.

BMC Med Genet 2018 07 18;19(1):120. Epub 2018 Jul 18.

Department of Rehabilitation, Zhongnan Hospital of Wuhan University, Wuhan, 430000, China.

Background: X-linked ichthyosis (XLI) is a recessive keratinization condition caused by deficient activity of steroid-sulfatase due to mutations in steroid sulfatase (STS) gene located on the X chromosome. In contrast, ichthyosis vulgaris (IV) is caused by filaggrin deficiency due to semi-dominant loss-of-function mutations of filaggrin (FLG) gene. Filaggrin defects could synergize with XLI to exacerbate its phenotype. Read More

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http://dx.doi.org/10.1186/s12881-018-0642-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6052571PMC
July 2018
5 Reads

Coexistence of X-linked ichthyosis and Nagashima-type palmoplantar keratosis: A case report.

J Dermatol 2019 Feb 13;46(2):e54-e55. Epub 2018 Jul 13.

Department of Dermatology, Tokushima University Graduate School of Medical Science, Tokushima, Japan.

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http://dx.doi.org/10.1111/1346-8138.14537DOI Listing
February 2019
3 Reads

Epidermal Nevi and Related Syndromes -- Part 1: Keratinocytic Nevi.

Actas Dermosifiliogr 2018 Oct 6;109(8):677-686. Epub 2018 Jul 6.

Servicio de Dermatología, Hospital de Manacor, Mallorca, Islas Baleares, España.

Epidermal nevi are hamartomatous lesions derived from the epidermis and/or adnexal structures of the skin; they have traditionally been classified according to their morphology. New variants have been described in recent years and advances in genetics have contributed to better characterization of these lesions and an improved understanding of their relationship with certain extracutaneous manifestations. In the first part of this review article, we will look at nevi derived specifically from the epidermis and associated syndromes. Read More

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http://dx.doi.org/10.1016/j.ad.2018.05.005DOI Listing
October 2018
16 Reads

Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family.

Int J Dermatol 2019 Apr 27;58(4):493-496. Epub 2018 Jun 27.

Key Laboratory of Birth Defects, Department of Genetics, Wenzhou Central Hospital, Wenzhou, China.

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http://dx.doi.org/10.1111/ijd.14129DOI Listing
April 2019
8 Reads

Evidence of the high prevalence of neurological disorders in nonsyndromic X-linked recessive ichthyosis: a retrospective case series.

Br J Dermatol 2018 10 11;179(4):933-939. Epub 2018 Sep 11.

Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.

Background: X-linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic. Typical clinical features include dark-brown scale of variable size favouring the extensor surfaces of the extremities. Read More

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http://dx.doi.org/10.1111/bjd.16826DOI Listing
October 2018
8 Reads

X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients.

Exp Dermatol 2019 10 2;28(10):1156-1163. Epub 2018 Jul 2.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.

Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85%-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. Read More

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http://dx.doi.org/10.1111/exd.13667DOI Listing
October 2019
8 Reads

Case of mild X-linked ichthyosis complicated with paroxysmal supraventricular tachycardia and anemia.

J Dermatol 2018 Oct 22;45(10):e275-e276. Epub 2018 Mar 22.

Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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http://doi.wiley.com/10.1111/1346-8138.14307
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http://dx.doi.org/10.1111/1346-8138.14307DOI Listing
October 2018
11 Reads

Whole-exome sequencing for diagnosis of hereditary ichthyosis.

J Eur Acad Dermatol Venereol 2018 Jun 9;32(6):1022-1027. Epub 2018 Mar 9.

Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.

Background: Hereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care.

Objective: We wanted to estimate the diagnostic yield of applying whole-exome sequencing (WES) in the routine genetic workup of inherited ichthyosis. Read More

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http://dx.doi.org/10.1111/jdv.14870DOI Listing
June 2018
5 Reads

Complex care of individuals with multiple sulfatase deficiency: Clinical cases and consensus statement.

Mol Genet Metab 2018 03 31;123(3):337-346. Epub 2018 Jan 31.

Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA. Electronic address:

Multiple sulfatase deficiency (MSD) is an ultra-rare neurodegenerative disorder that results in defective sulfatase post-translational modification. Sulfatases in the body are activated by a unique protein, formylglycine-generating enzyme (FGE) that is encoded by SUMF1. When FGE is absent or insufficient, all 17 known human sulfatases are affected, including the enzymes associated with metachromatic leukodystrophy (MLD), several mucopolysaccharidoses (MPS II, IIIA, IIID, IVA, VI), chondrodysplasia punctata, and X-linked ichthyosis. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856873PMC
March 2018
45 Reads

CHILD syndrome: A modified pathogenesis-targeted therapeutic approach.

Am J Med Genet A 2018 03 2;176(3):733-738. Epub 2018 Feb 2.

Department of Dermatology, American University of Beirut, Beirut, Lebanon.

Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CHILD syndrome) is a rare X-linked dominant genodermatosis caused by mutations in the NAD(P) dependent steroid dehydrogenase-like protein gene. Its defect leads to accumulation of toxic metabolic intermediates upstream from the pathway block and to the deficiency of bulk cholesterol, probably leading to altered keratinocyte membrane function, resulting in the phenotype seen in CHILD syndrome. Symptomatic treatment using emollients and retinoids to reduce scaling has long been used until recently, whereby new therapeutic means based on the pathogenesis-targeted therapy have been developed. Read More

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http://dx.doi.org/10.1002/ajmg.a.38619DOI Listing
March 2018
12 Reads

CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol.

J Eur Acad Dermatol Venereol 2018 Jul 1;32(7):1209-1213. Epub 2018 Feb 1.

Department of Dermatology, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Background: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by peculiar cutaneous presentations and ipsilateral skeletal abnormalities. CHILD syndrome is caused by mutations in NSDHL gene, which involves in cholesterol synthesis.

Objectives: To verify the diagnosis of CHILD syndrome and seek effective pathogenesis-based therapy with little side-effects. Read More

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http://dx.doi.org/10.1111/jdv.14788DOI Listing
July 2018
8 Reads

Clinico-epidemiological Study of Congenital Ichthyosis in a Tertiary Care Center of Eastern India.

Indian J Dermatol 2017 Nov-Dec;62(6):606-611

Department of Dermatology, Venereology and Leprosy, IPGMER and SSKM Hospital, Kolkata, West Bengal, India.

Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes. There is scanty data regarding the demographic profile and clinical features of patients with congenital ichthyosis in India. Read More

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http://dx.doi.org/10.4103/ijd.IJD_411_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5724308PMC
December 2017
21 Reads

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report.

J Med Case Rep 2017 Sep 22;11(1):267. Epub 2017 Sep 22.

King Abdullah International Medical Research Center (KAIMRC), Riyadh, Saudi Arabia.

Background: X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes. Here, we show for the first time, that X-linked ichthyosis may be comorbid with an additional psychiatric phenotype (psychosis). Read More

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http://dx.doi.org/10.1186/s13256-017-1420-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609014PMC
September 2017
57 Reads

A rare presentation of keratosis follicularis spinulosa decalvans in female twins.

Indian J Dermatol Venereol Leprol 2018 Sep-Oct;84(5):645

Department of Dermatology and Venereology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, Uttar Pradesh, India.

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http://www.ijdvl.com/text.asp?2018/84/5/645/213709
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http://dx.doi.org/10.4103/ijdvl.IJDVL_524_16DOI Listing
August 2019
6 Reads