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    630 results match your criteria Ichthyosis X-Linked

    1 OF 13

    Ichthyosis follicularis with alopecia and photophobia syndrome (IFAP): A Case Report.
    Dermatol Online J 2017 Feb 15;23(2). Epub 2017 Feb 15.
    Pediatric Dermatology Section, Hospital Ramos Mejía. Buenos Aires, Argentina.
    IFAP syndrome is a rare autosomal recessive X-linked disease characterized by the triad of alopecia universalis, severe photophobia, and follicular ichthyosis. It is caused by loss of function of the gene MBTPS2. Its severity varies and there are only a few reports in the literature. Read More

    In vivo confocal microscopy of pre-Descemet corneal dystrophy associated with X-linked ichthyosis: a case report.
    BMC Ophthalmol 2017 Mar 16;17(1):29. Epub 2017 Mar 16.
    Department of Ophthalmology, The First Hospital of Jilin University, No. 71 of xinmin St, Changchun, Jilin Province, 130021, China.
    Background: Pre-Descemet corneal dystrophy (PDCD) is characterized by the presence of numerous, tiny, polymorphic opacities immediately anterior to Descemet membrane, which is a rare form of corneal stromal dystrophy and hard to be diagnosed. In vivo confocal microscopy (IVCM) is a useful tool to examine the minimal lesions of the cornea at the cellular level. In this article, we report a rare case of PDCD associated with X-linked ichthyosis and evaluate IVCM findings. Read More

    Xp22.31 Microdeletion due to Microhomology-Mediated Break-Induced Replication in a Boy with Contiguous Gene Deletion Syndrome.
    Cytogenet Genome Res 2017 3;151(1):1-4. Epub 2017 Mar 3.
    Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
    The Xp22.31 region is characterized by a low frequency of interspersed repeats and a low GC content. Submicroscopic deletions at Xp22. Read More

    Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism.
    Hum Reprod 2017 Mar;32(3):704-711
    CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal.
    Study Question: What is the prevalence and functional consequence of ANOS1 (KAL1) mutations in a group of men with congenital hypogonadotropic hypogonadism (CHH)?

    Summary Answer: Three of forty-two (7.1%) patients presented ANOS1 mutations, including a novel splice site mutation leading to exon skipping and a novel contiguous gene deletion associated with ichthyosis.

    What Is Known Already: CHH is characterized by lack of pubertal development and infertility, due to deficient production, secretion or action of GnRH, and can be associated with anosmia/hyposmia (Kallmann syndrome, KS) or with a normal sense of smell (normosmic CHH). Read More

    Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosis.
    Clin Cases Miner Bone Metab 2016 May-Aug;13(2):157-159. Epub 2016 Oct 5.
    The Royal Melbourne Hospital, The University of Melbourne, Parkville, VIC, Australia.
    Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. Read More

    [A Case of Steroid Sulfatase Deficiency Complicated by Bilateral Undescended Testis].
    Hinyokika Kiyo 2016 Nov;62(11):595-597
    The Department of Urology, Osaka General Medical Center.
    Steroid sulfatase (STS) deficiency is one of the causes of ichthyoses. STS genes on the X chromosome is responsible for this disease. Therefore, STS deficiency is also called X-linked ichthyosis. Read More

    Primary cicatricial alopecia: Other lymphocytic primary cicatricial alopecias and neutrophilic and mixed primary cicatricial alopecias.
    J Am Acad Dermatol 2016 Dec;75(6):1101-1117
    Department of Dermatology, University of British Columbia, Vancouver, British Columbia, Canada; Department of Dermatology, New York University, New York, New York.
    Primary cicatricial alopecias can be frustrating for both patients and physicians. Proper diagnosis guides more successful management of these challenging conditions. Part II will cover the remaining lymphocytic primary cicatricial alopecias, which include pseudopelade of Brocq, central centrifugal cicatricial alopecia, alopecia mucinosa, and keratosis follicularis spinulosa decalvans. Read More

    Insights into rare diseases from social media surveys.
    Orphanet J Rare Dis 2016 Nov 9;11(1):151. Epub 2016 Nov 9.
    Medical Research Council Centre for Neuropsychiatric Genetics and Genomics and Division of Psychological Medicine and Clinical Neurosciences, School of Medicine Cardiff University, Cardiff, UK.
    The internet, and social media platforms, are increasingly being used by substantial sectors of the worldwide population. By engaging effectively with online and social media, scientists and clinicians can obtain unprecedented access to relatively large cohorts of individuals with rare diseases, as well as their relatives, carers and professionals involved in their healthcare. Online surveys of these stakeholder groups may provide important new insights into rare conditions and their management relatively quickly and easily, with the possibility of rapid translation into healthcare interventions and policy. Read More

    [Identification of gene mutation and prenatal diagnosis in a family with X-linked ichthyosis].
    Zhongguo Dang Dai Er Ke Za Zhi 2016 Nov;18(11):1136-1140
    Department of Clinical Laboratory, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, Guangxi 545001, China.
    X-linked ichthyosis (XLI) is a metabolic disease with steroid sulfatase deficiency and often occurs at birth or shortly after birth. The encoding gene of steroid sulfatase, STS, is located on the short arm of the X chromosome, and STS deletion or mutation can lead to the development of this disease. This study collected the data on the clinical phenotype from a family, and the proband, a boy aged 11 years with full-term vaginal delivery, had dry and rough skin and black-brown scaly patches, mainly in the abdomen and extensor aspect of extremities. Read More

    Behavioural and Psychiatric Phenotypes in Men and Boys with X-Linked Ichthyosis: Evidence from a Worldwide Online Survey.
    PLoS One 2016 6;11(10):e0164417. Epub 2016 Oct 6.
    MRC Centre for Neuropsychiatric Genetics and Genomics and Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, United Kingdom.
    Background: X-linked ichthyosis (XLI) is a rare dermatological condition arising from deficiency for the enzyme steroid sulfatase (STS). Preliminary evidence in boys with XLI, and animal model studies, suggests that individuals lacking STS are at increased risk of developmental disorders and associated traits. However, the behavioural profile of children with XLI is poorly-characterised, and the behavioural profile of adults with XLI has not yet been documented at all. Read More

    Role of steroid sulfatase in steroid homeostasis and characterization of the sulfated steroid pathway: Evidence from steroid sulfatase deficiency.
    Mol Cell Endocrinol 2016 Dec 13;437:142-153. Epub 2016 Aug 13.
    Steroid Research & Mass Spectrometry Unit, Division of Pediatric Endocrinology & Diabetology, Center of Child and Adolescent Medicine, Justus Liebig University, Feulgenstrasse 12, 35392, Giessen, Germany.
    The impact of steroid sulfatase (STS) activity in the circulating levels of both sulfated and unconjugated steroids is only partially known. In addition, the sulfated steroid pathway, a parallel pathway to the one for unconjugated steroids, which uses the same enzymes, has never been characterized in detail before. Patients with steroid sulfatase deficiency (STSD) are unable to enzymatically convert sulfated steroids into their unconjugated forms, and are a good model to elucidate how STS affects steroid biosynthesis and to study the metabolism of sulfated steroids. Read More

    Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization.
    J Korean Med Sci 2016 Aug 20;31(8):1307-18. Epub 2016 May 20.
    Department of Dermatology, Yonsei University Wonju College of Medicine, Wonju, Korea .
    X-linked ichthyosis (XLI) is a recessively inherited ichthyosis. Skin barrier function of XLI patients reported in Western countries presented minimally abnormal or normal. Here, we evaluated the skin barrier properties and a skin barrier-related gene mutation in 16 Korean XLI patients who were diagnosed by fluorescence in situ hybridization and array comparative genomic hybridization analysis. Read More

    The Effect of Multiple Sulfatase Deficiency (MSD) on Dental Development: Can We Use the Teeth as an Early Diagnostic Tool?
    JIMD Rep 2016 26;30:95-101. Epub 2016 Jun 26.
    Ben Gurion University of the Negev, Negev, Israel.
    Background: Multiple sulfatase deficiency (MSD) is a rare autosomal recessive inborn error of metabolism due to reduced catalytic activity of the different sulfatase. Affected individuals show neurologic deterioration with mental retardation, skeletal anomalies, organomegaly, and skin changes as in X-linked ichthyosis. The only organ that was not examined in MSD patients is the dentition. Read More

    [Genetic analysis of a rare case with Kallman syndrome and steroid sulfatase deficiency].
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2016 Jun;33(3):349-52
    Reproduction Medicine Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
    Objective: To explore the pathogenesis of a patient featuring azoospermia and steroid sulfatase deficiency.

    Methods: Polymerase chain reaction (PCR), G-banded karyotyping and Illumina Human CytoSNP-12 Beadchip analysis were conducted.

    Results: STS sites PCR showed that there was no deletion in the AZF zone. Read More

    Genet Couns 2016 ;27(1):25-33
    Autosomal recessive primary microcephaly is a heterogeneous genetic disorder caused by genes that affect neurogenesis. This form of microcephaly has not been associated with other congenital anomalies. ASPM mutations have been identified as the major cause implicated in autosomal recessive primary microcephaly. Read More

    Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.
    J Clin Endocrinol Metab 2016 Jun 22;101(6):2545-53. Epub 2016 Mar 22.
    Institutes of Metabolism and Systems Research (J.I., A.E.T., S.S., D.M.O., C.H.L.S., W.A.) and Cancer and Genomic Sciences (T.G.B.), University of Birmingham, Birmingham B15 2TT, United Kingdom; Centres for Endocrinology, Diabetes and Metabolism (J.I., A.E.T., R.P.D., T.G.B., C.H.L.S., J.M.W.K., W.A.) and Rare Diseases and Personalised Medicine (T.G.B.), Birmingham Health Partners, Birmingham B15 2TH, United Kingdom; Departments of Paediatric Endocrinology and Diabetes (J.I., R.P.D., T.G.B., J.M.W.K.) and Paediatric Dermatology (C.M.), Birmingham Children's Hospital National Health Service Foundation Trust, Birmingham B4 6NH, United Kingdom; MRC-Holland bv (R.V.), 1057-DN Amsterdam, The Netherlands; Department of Paediatric Endocrinology (R.A.), Great Ormond St Hospital for Children, London WC1N 3JH, United Kingdom; and Benioff Children's Hospital (C.H.L.S.), University of California San Francisco, Oakland, California 94609.
    Context: Steroid sulfatase (STS) cleaves the sulfate moiety off steroid sulfates, including dehydroepiandrosterone (DHEA) sulfate (DHEAS), the inactive sulfate ester of the adrenal androgen precursor DHEA. Deficient DHEA sulfation, the opposite enzymatic reaction to that catalyzed by STS, results in androgen excess by increased conversion of DHEA to active androgens. STS deficiency (STSD) due to deletions or inactivating mutations in the X-linked STS gene manifests with ichthyosis, but androgen synthesis and metabolism in STSD have not been studied in detail yet. Read More

    Inherited ichthyosis: Syndromic forms.
    J Dermatol 2016 Mar;43(3):252-63
    Department of Dermatology, Faculty of Medicine, Kagawa University, Kagawa, Japan.
    Among diseases that cause ichthyosis as one of the symptoms, there are some diseases that induce abnormalities in organs other than the skin. Of these, diseases with characteristic signs are regarded as syndromes. Although these syndromes are very rare, Netherton syndrome, Sjögren-Larsson syndrome, Conradi-Hünermann-Happle syndrome, Dorfman-Chanarin syndrome, ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome, and Refsum syndrome have been described in texts as representative ones. Read More

    Inherited ichthyosis: Non-syndromic forms.
    J Dermatol 2016 Mar;43(3):242-51
    Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
    Inherited ichthyoses are a group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, and often associated with erythroderma. These manifestations are due to mutations in genes mostly involved in skin barrier formation. Inherited ichthyoses consist of non-syndromic ichthyoses and ichthyosis syndromes. Read More

    Ocular manifestations of genetic skin disorders.
    Clin Dermatol 2016 Mar-Apr;34(2):242-75. Epub 2015 Dec 2.
    The Vision Center, Children's Hospital Los Angeles; Department of Ophthalmology, Keck School of Medicine, University of Southern California, 4650 Sunset Blvd, MS #88, Los Angeles, CA, 90027.
    Genetic skin diseases, or genodermatoses, often have extracutaneous manifestations. Ocular manifestations in particular can have significant clinical implications, like blindness. Other manifestations, such as the corneal opacities that occur in X-linked ichthyosis, are asymptomatic but characteristic of a particular genodermatosis. Read More

    A Case of HDR Syndrome and Ichthyosis: Dual Diagnosis by Whole-Genome Sequencing of Novel Mutations in GATA3 and STS Genes.
    J Clin Endocrinol Metab 2016 Mar 5;101(3):837-40. Epub 2016 Jan 5.
    Division of Endocrinology, Department of Pediatrics (G.G.), and Division of Genetics and Genomics (P.P.H., D.T.M.), Children's Hospital of Boston, Boston, Massachusetts 02115.
    Context: Atypical presentations of complex multisystem disorders may elude diagnosis based on clinical findings only. Appropriate diagnostic tests may not be available or available tests may not provide appropriate coverage of relevant genomic regions for patients with complex phenotypes. Clinical whole-exome/-genome sequencing is often considered for complex patients lacking a definitive diagnosis. Read More

    X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3.
    Mol Med Rep 2016 Feb 10;13(2):1135-40. Epub 2015 Dec 10.
    Department of Medical Genetics, Capital Institute of Pediatrics, Beijing 100020, P.R. China.
    X-linked ichthyosis (XLI) is an X-linked recessive skin disorder generally restricted to males, which arises from mutations in the steroid sulfatase (STS) gene located on Xp22.3. Crigler-Najjar syndrome (CN-I) is a rare autosomal recessive disease caused by the homozygous or compound heterozygous mutations in the UPD‑glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) gene on chromosome 2q37. Read More

    X-linked Ichthyosis Presenting as Erythroderma: A Rare Case.
    Indian J Dermatol 2015 Sep-Oct;60(5):491-3
    Department of Dermatology, Medical College and Hospital, Kolkata, West Bengal, India.
    X-linked ichthyosis is a rare form of dermatological disease and when it presents as erythroderma it is even rarer. History of consanguineous marriage and prolonged labor during birth of patient, generalized scaling which gets better in summer months, flexural involvement, cryptorchidism made a diagnosis of X-linked ichthyosis. We report this case because of its rarity as erythroderma. Read More

    CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation.
    Pediatr Dermatol 2015 Nov-Dec;32(6):e277-82. Epub 2015 Oct 13.
    Department of Dermatology, Zhujiang Hospital of Southern Medical University, Guangzhou, China.
    Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is an X-linked autosomal dominant disorder characterized by unilateral congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects caused by a mutation in the gene encoding NAD[P]H steroid dehydrogenase-like protein (NSDHL) at Xq28. The histopathologic hallmark of skin lesions in CHILD syndrome is psoriasiform epidermis with hyperkeratosis and parakeratosis, and its most striking feature affecting the upper dermis is filling of the papillary dermis with foam cells. Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Read More

    X-linked ichthyosis in a patient with a novel nonsense mutation in the STS gene.
    J Dermatol Sci 2015 Nov 14;80(2):160-2. Epub 2015 Sep 14.
    Departamento de Genética Médica, Hospital General de México, Facultad de Medicina, UNAM, Mexico City, Mexico. Electronic address:

    Simultaneous quantification of cholesterol sulfate, androgen sulfates, and progestagen sulfates in human serum by LC-MS/MS.
    J Lipid Res 2015 Sep 2;56(9):1843-51. Epub 2015 Aug 2.
    Steroid Research and Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig-University, 35392 Giessen, Germany.
    Steroids are primarily present in human fluids in their sulfated forms. Profiling of these compounds is important from both diagnostic and physiological points of view. Here, we present a novel method for the quantification of 11 intact steroid sulfates in human serum by LC-MS/MS. Read More

    The Regulation of Steroid Action by Sulfation and Desulfation.
    Endocr Rev 2015 Oct 27;36(5):526-63. Epub 2015 Jul 27.
    Centre for Endocrinology, Diabetes, and Metabolism, Institute of Metabolism and Systems Research, University of Birmingham, Birmingham B15 2TT, United Kingdom.
    Steroid sulfation and desulfation are fundamental pathways vital for a functional vertebrate endocrine system. After biosynthesis, hydrophobic steroids are sulfated to expedite circulatory transit. Target cells express transmembrane organic anion-transporting polypeptides that facilitate cellular uptake of sulfated steroids. Read More

    Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.
    J Dermatol Sci 2015 Sep 6;79(3):317-9. Epub 2015 Jul 6.
    Department of Dermatology, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya 466-8550, Japan. Electronic address:

    What's new with common genetic skin disorders?
    Curr Opin Pediatr 2015 Aug;27(4):460-5
    Department of Dermatology, Medical Genetics and Pediatric and Adolescent Medicine, Rochester, Minnesota, USA.
    Purpose Of Review: Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), incontinentia pigmenti, and X-linked ichthyosis have recognizable, cutaneous features. In children, cases often present without a prior diagnosis. This review highlights new information about diagnostic signs and care of affected patients. Read More

    A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.
    Am J Med Genet A 2015 Jun 21;167(6):1342-8. Epub 2015 Apr 21.
    Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
    The NSDHL gene encodes 3β-hydroxysteroid dehydrogenase involved in one of the later steps of the cholesterol biosynthetic pathway. Mutations in this gene can cause CHILD syndrome (OMIM 308050) and CK syndrome (OMIM 300831). CHILD syndrome is an X-linked dominant, male lethal disorder caused by mutations in the NSDHL gene that result in the loss of the function of the NSDHL protein. Read More

    Adult presentation of X-linked Conradi-Hünermann-Happle syndrome.
    Am J Med Genet A 2015 Jun 2;167(6):1309-14. Epub 2015 Apr 2.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
    Conradi-Hünermann-Happle syndrome, or X-linked dominant chondrodysplasia punctata type 2 (CDPX2), is a genodermatosis caused by mutations in EBP. While typically lethal in males, females with CDPX2 generally manifest by infancy or childhood with variable features including congenital ichthyosiform erythroderma, chondrodysplasia punctata, asymmetric shortening of the long bones, and cataracts. We present a 36-year-old female with short stature, rhizomelic and asymmetric limb shortening, severe scoliosis, a sectorial cataract, and no family history of CDPX2. Read More

    CHILD Syndrome: Successful Treatment of Skin Lesions with Topical Simvastatin/Cholesterol Ointment--A Case Report.
    Pediatr Dermatol 2015 Jul-Aug;32(4):e145-7. Epub 2015 Apr 6.
    First Department of Pediatrics, University of Athens and Aghia Sofia Children's Hospital, Athens, Greece.
    CHILD syndrome is a rare X-linked dominant condition that presents with congenital hemidysplasia, Ichthyosiform erythroderma, and limb defects in affected patients. We report the case of a 10-year-old girl treated with topical simvastatin and cholesterol ointment, after which her skin lesions significantly improved within the first 30 days of treatment. Read More

    Severe X-linked chondrodysplasia punctata in nine new female fetuses.
    Prenat Diagn 2015 Jul 30;35(7):675-84. Epub 2015 Mar 30.
    Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Est, FHU-TRANSLAD, CHU Dijon, France.
    Objectives: Conradi-Hünermann-Happle [X-linked dominant chondrodysplasia punctata 2 (CDPX2)] syndrome is a rare X-linked dominant skeletal dysplasia usually lethal in men while affected women show wide clinical heterogeneity. Different EBP mutations have been reported. Severe female cases have rarely been reported, with only six antenatal presentations. Read More

    Maternal X chromosome copy number variations are associated with discordant fetal sex chromosome aneuploidies detected by noninvasive prenatal testing.
    Clin Chim Acta 2015 Apr 14;444:113-6. Epub 2015 Feb 14.
    Berry Genomics Co., Ltd, Building 9, No 6 Court Jingshun East Road, Chaoyang District, Beijing 100015, China. Electronic address:
    Background: The sensitivity and specificity of noninvasive prenatal testing (NIPT) for detection of sex chromosome aneuploidies (SCAs) compared to common autosomal trisomies are significantly lower. We speculated that in addition to altered maternal X chromosome karyotype, maternal X chromosome copy number variations (CNVs) may also contribute to discordant NIPT SCA results.

    Methods: Clinical NIPT was performed for pregnant women at a single hospital. Read More

    A Case of IFAP Syndrome with Severe Atopic Dermatitis.
    Case Rep Med 2015 21;2015:450937. Epub 2015 Jan 21.
    Dermatology Department, Hospital de Braga, Sete Fontes, São Victor, 4710-243 Braga, Portugal.
    Introduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. Read More

    Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
    Clin Exp Dermatol 2015 Jul 16;40(5):529-32. Epub 2015 Feb 16.
    St John's Institute of Dermatology, King's College London (Guy's Campus), London, UK.
    Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome (OMIM 308205) is a rare X-linked genetic disorder. Mutations in MBTPS2 underlie IFAP syndrome, with 19 different mutations reported to date. Keratosis follicularis spinulosa decalvans (KFSD) is an allelic disorder that results from a single recurrent mutation, p. Read More

    The phenotype spectrum of X-linked ichthyosis identified by chromosomal microarray.
    J Am Acad Dermatol 2015 Apr 7;72(4):617-27. Epub 2015 Feb 7.
    Department of Medical Genetics, Mayo Clinic, Rochester, Minnesota; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota; Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, California.
    Background: Steroid sulfatase (STS) gene disruption causes X-linked ichthyosis (XLI). Interrogating the entire genome through chromosomal microarray (CMA), a test primarily used to screen patients with noncutaneous congenital anomalies, may detect STS deletions incidentally.

    Objective: We sought to determine the variability of skin features associated with STS deletions diagnosed through CMA and to compare these findings with XLI cases reported in the literature and recognized in a dermatology clinic. Read More

    A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A.
    J Med Genet 2015 Apr 22;52(4):269-74. Epub 2015 Jan 22.
    Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia.
    Background: Trichothiodystrophy (TTD) is a group of rare autosomal recessive disorders that variably affect a wide range of organs derived from the neuroectoderm. The key diagnostic feature is sparse, brittle, sulfur deficient hair that has a 'tiger-tail' banding pattern under polarising light microscopy.

    Patients And Methods: We describe two male cousins affected by TTD associated with microcephaly, profound intellectual disability, sparse brittle hair, aged appearance, short stature, facial dysmorphism, seizures, an immunoglobulin deficiency, multiple endocrine abnormalities, cerebellar hypoplasia and partial absence of the corpus callosum, in the absence of cellular photosensitivity and ichthyosis. Read More

    Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family.
    Andrologia 2015 Dec 19;47(10):1160-5. Epub 2015 Jan 19.
    Department of Internal Medicine and Gene Therapy Center, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
    Kallmann syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. This condition affects 1 in 10 000 men and 1 in 50,000 women. Defects in seventeen genes including KAL1 gene contribute to the molecular basis of KS. Read More

    Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses.
    JAMA Dermatol 2015 Mar;151(3):285-92
    Dermatology Service, Department of Veterans Affairs Medical Center, University of California, San Francisco2Department of Dermatology, University of California, San Francisco.
    Importance: Secondary infections and impaired desquamation complicate certain inherited ichthyoses, but their cellular basis remains unknown. In healthy human epidermis, the antimicrobial peptides cathelicidin (LL-37) and human β-defensin 2 (HBD2), as well as the desquamatory protease kallikrein-related peptidase 7 (KLK7), are delivered to the stratum corneum (SC) interstices by lamellar body (LB) exocytosis.

    Objective: To assess whether abnormalities in the LB secretory system could account for increased risk of infections and impaired desquamation in inherited ichthyoses with known abnormalities in LB assembly (Harlequin ichthyosis [HI]), secretion (epidermolytic ichthyosis [EI]), or postsecretory proteolysis (Netherton syndrome [NS]). Read More

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