ABSTRACT
Las ictiosis hereditarias son un grupo de desórdenes mendelianos, con manifestaciones clínicas y alteraciones genéticas heterogéneas caracterizadas por la presencia de escamas y/o hiperqueratosis. Las ictiosis sindrómicas son aquellas en las que el defecto genético se manifiesta en la piel y también en otros órganos. Presentamos 7 pacientes con ictiosis sindrómicas: un síndrome IFAP (ictiosis folicular, atriquia, fotofobia), un síndrome de Conradi-Hünermann-Happle (CHH), dos síndromes de Netherton (SN), dos síndromes de Sjögren-Larsson (SSL) y un síndrome KID (queratitis, ictiosis, sordera). Se analizan las características clínicas y diagnósticas de nuestros pacientes (AU)
Inherited ichthyosis are a group of clinical and genetic heterogeneous disorders characterized by the presence of scales, hyperkeratosis or both. In syndromic ichthyosis, the genetic defect involves the skin and other organs. We present 7 patients with syndromic ichthyosis: a case of IFAP syndrome (ichthyosis follicularis with alopecia and photophobia), a case of Conradi-Hünermann-Happle (CHH) syndrome, two cases of Netherton syndrome, two cases of Sjögren-Larsson syndrome and a case of KID syndrome (keratitis, ichthyosis and deafness). We analyze the diagnostic and clinical features of our patients (AU)
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Ichthyosis/etiology , Ichthyosis/pathology , Alopecia , Ichthyosis, X-Linked , Netherton Syndrome , Photophobia , Sjogren-Larsson SyndromeABSTRACT
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. Peripheral blood samples were collected from each family member and DNA was extracted. Multiplex ligation-dependent probe amplification (MLPA) was used to measure the copy number of STS on the X chromosome. Whole-genome microarray was used to determine the size of the segment with microdeletion in the X chromosome. MLPA was then used for prenatal diagnosis for the mother of the proband. The results revealed that the proband and another two male patients had hemizygotes in STS deletion. Gene microarray identified a rare deletion with a size of 1.6 Mb at Xp22.31 (chrX: 6,516,735-8,131,442). Two female family members were found to be carriers. Prenatal diagnosis showed that the fetus carried by the proband's mother was a carrier of this microdeletion. This study showed STS gene deletion in this family of XLI, which causes the unique skin lesions of XLI. MLPA is a convenient and reliable technique for the molecular and prenatal diagnosis of XLI.
Subject(s)
Child , Humans , Male , Ichthyosis, X-Linked , Diagnosis , Genetics , Mutation , Polymorphism, Single Nucleotide , Prenatal Diagnosis , Steryl-Sulfatase , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To explore the pathogenesis of a patient featuring azoospermia and steroid sulfatase deficiency.</p><p><b>METHODS</b>Polymerase chain reaction (PCR), G-banded karyotyping and Illumina Human CytoSNP-12 Beadchip analysis were conducted.</p><p><b>RESULTS</b>STS sites PCR showed that there was no deletion in the AZF zone. G-banding analysis indicated an unknown structural change in chromosome X, which was verified by single nucleotide polymorphism array (SNP array) as a 5.4 Mb deletion in Xp22.31-p22.33.</p><p><b>CONCLUSION</b>The Xp22.31-p22.33 deletion probably underlies the Kallman syndrome and steroid sulfatase defect in the patient.</p>
Subject(s)
Adult , Humans , Male , Ichthyosis, X-Linked , Genetics , Kallmann Syndrome , Genetics , Karyotyping , Polymerase Chain Reaction , Polymorphism, Single NucleotideABSTRACT
La ictiosis ligada al cromosoma X es una genodermatosis poco frecuente que afecta a varones a partir de las 2 semanas de vida y se caracteriza por xerodermia, hiperqueratosis, descamación y, en algunos casos, manifestaciones extracutáneas como criptorquidia y opacidad de la córnea. La enfermedad es de evolución crónica y experimenta mejoría parcial en época estival. La deleción total o parcial de la enzima sulfatasa esteroidea es la causa de las manifestaciones clínicas. Presentamos tres pacientes con ictiosis ligada al cromosoma X, a quienes se les realizaron interconsultas con los servicio de Oftalmología y Pediatría. Se encuentran actualmente en tratamiento con emolientes...
Subject(s)
Humans , Male , Child , Genetic Diseases, X-Linked/genetics , Steryl-Sulfatase/genetics , Ichthyosis, X-Linked/genetics , Diagnosis, Differential , Skin/pathologyABSTRACT
We describe a 10-year-old boy with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis who presented with nephrotic syndrome. DNA analysis revealed deletion of the Steroid Sulfatase (STS) gene. STS deficiency in X-linked ichthyosis leads to cholesterol sulfate accumulation, which induces transglutaminase-1 dysfunction. Since the slit diaphragm of the glomerular epithelial cell is a modified adherens junction, the accumulation of cholesterol sulfate could interfere with the normal slit diaphragm function of the glomerular visceral epithelial cell, resulting in nephrotic range proteinuria. The child went into remission on oral prednisolone.
Subject(s)
Child , Gene Deletion , Humans , Ichthyosis, X-Linked/diagnosis , Kallmann Syndrome/diagnosis , Kidney/abnormalities , Male , Nephrotic Syndrome/diagnosis , Steryl-Sulfatase/geneticsABSTRACT
To investigate the gene mutation in a pedigree with X-linked ichthyosis (XLI) and to explore the relationship between the mutation and its clinical manifestations, genomic DNA of affected members, the normal member of the pedigree and 50 unrelated normal members was extracted with a whole blood genomic DNA extraction kit and the DNA was used as a template for the polymerase chain reaction (PCR)-mediated amplification of exon 1 and exon 10 of the STS gene. hHb6 (human hair basic keratin) gene was used as the internal control. Our results showed that the STS gene was deleted in affected members in the pedigree with X-linked ichthyosis. The normal member of the pedigree and 50 unrelated normal members had no such deletion. The proband and his mother had products in the internal control after PCR amplification. The blank control had no product. It is concluded that deletion of the STS gene existed in this pedigree with X-linked ichthyosis, and it is responsible for the unique skin lesions of X-linked ichthyosis.
Subject(s)
Gene Deletion , Ichthyosis, X-Linked/genetics , Pedigree , Steryl-Sulfatase/geneticsABSTRACT
The aim of this study is to find out the association of atopic dermatitis and other atopic features with primary hereditary ichthyosis [PHI] among Saudi patients in King Fahd Hospital of the University, Al-Khobar, Kingdom of Saudi Arabia. From the out-patient Department of Dermatology logbooks, all Saudi patients with clinically and histopathologically confirmed PHI seen between January 1990 and December 1995 were included in this study. Clinical findings regarding the atopic manifestations of PHI were extracted into data collection forms and computer-analyzed, using Statistical Package for Social Sciences. Over a 6-year study period, 10,455 new patients were seen in our Dermatology Clinics. Of these, 61 had PHI, there were 37 males and 24 females with a ratio of 1.5:1. Atopic dermatitis [AD], diagnosed according to Hanifin and Rajka criteria, was found in 7 [11.5%] patients of PHI; 5 of which were ichthyosis vulgaris and 2 with x-linked recessive ichthyosis. Isolated features of atopy were observed in the form of pruritus 49 [80%], elevated immunoglobulin E 27 [44.3%], dandruff 24 [39%], keratosis pilaris [KP] 15 [25%] and asthma 3 [5%]. In the present study, there was an 11.5% association between AD and PHI. However, isolated features of atopy were found in PHI in variable proportions ranging from 5-80%
Subject(s)
Humans , Male , Female , Ichthyosis Vulgaris , Ichthyosis, X-Linked , Dermatitis, Atopic , Pruritus , Immunoglobulin E , AsthmaABSTRACT
Se presenta el caso de una paciente de 28 años de edad, portadora de Ictiosis X recesiva, con antecedentes en embarazos anteriores de dos muertes fetales de sexo masculino, quien lleva a término un cuarto embarazo sin complicaciones y se obtiene un recién nacido femenino no afecto de la enfermedad
Subject(s)
Humans , Adult , Female , Pregnancy , Pregnancy Complications , Ichthyosis, X-Linked , Postpartum Period , Venezuela , Gynecology , ObstetricsABSTRACT
Harlequin fetus is a rare and the most severe form of congenital ichthyosis. Most of the infants die within a few weeks after birth due to sepsis and respiratory difficulties. The case of a female harlequin baby is reported. The baby survived because of good neonatal intensive care, topical emollients and oral etretinate. Now she is over three years old and the skin developed into congenital non-bullous ichthyosiform erythroderma. Unfortunately she had delayed growth and development. This is the first case report of a harlequin fetus in Thailand that had prolonged survival.
Subject(s)
Female , Follow-Up Studies , Humans , Ichthyosis, X-Linked/diagnosis , Infant, Newborn , Intensive Care, Neonatal , ThailandABSTRACT
Nas ictioses recessivas ligadas ao x (IRLX) ocorre deficiência ou ausência de atividade da enzima colesterol-sulfatase (arilsulfatase C). A descamaçäo da camada córnea é retardada, determinando quadro clínico característico. Com base em um caso clínico de IRLX, säo discutidos os aspectos clínicos, bioquímicos e genéticos dessa forma de ictiose