Ichthyosis
View article: 274 Variegate/Confetti Ichthyosis Presenting as a Harlequin Phenotype
274 Variegate/Confetti Ichthyosis Presenting as a Harlequin Phenotype Open
View article: Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review
Topical Treatments for Rare Genetic Dermatological Diseases: A Narrative Review Open
Rare diseases are conditions that affect up to 65 people per 100,000 individuals. They are also known as “orphan diseases”, because they attract limited interest from researchers and pharmaceutical industries. Epidermolysis bullosa (EB), i…
View article: Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis
Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis Open
Background Pathogenic variants in ALOX12B , a crucial enzyme involved in epidermal lipid processing, are among the most common causes of autosomal recessive congenital ichthyosis (ARCI). Although traditionally considered a cutaneous disord…
View article: Ichthyosis Prematurity Syndrome Caused by a Novel Homozygous SLC27A4 Mutation in Two Emirati Siblings
Ichthyosis Prematurity Syndrome Caused by a Novel Homozygous SLC27A4 Mutation in Two Emirati Siblings Open
View article: Deletion of the Epidermal Protease KLK5 Aggravates the Symptoms of Congenital Ichthyosis CDSN-nEDD
Deletion of the Epidermal Protease KLK5 Aggravates the Symptoms of Congenital Ichthyosis CDSN-nEDD Open
Congenital ichthyoses, now grouped under the acronym EDD (Epidermal Differentiation Disorders), include nonsyndromic forms (nEDD) that may be caused by loss-of-function mutations in the CDSN gene encoding corneodesmosin (CDSN-nEDD, formerl…
View article: Hypodontia in a child with keratitis–ichthyosis–deafness (KID) syndrome: a case report
Hypodontia in a child with keratitis–ichthyosis–deafness (KID) syndrome: a case report Open
View article: Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Open
Background/Objectives: Bullous congenital ichthyosiform erythroderma (BCIE) is an inherited keratinization disorder caused by pathogenic variants in specific genes. Here, we report a pair of half-siblings with BCIE and tinea capitis due to…
View article: Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis–Ichthyosis–Deafness (<scp>KID</scp>) Syndrome With Topical Mefenamic Acid
Treatment of Epidermal Pathology in a Pediatric Patient With Keratitis–Ichthyosis–Deafness (<span>KID</span>) Syndrome With Topical Mefenamic Acid Open
Keratitis–ichthyosis–deafness (KID) syndrome is a rare genetic condition typically presenting at birth with ichthyosiform erythroderma and bilateral hearing loss and later progressing to diffuse keratodermatous plaques with scaling. The co…
View article: Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder
Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder Open
View article: Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey
Three Novel Mutations in ALOX12B Gene in Patients with Autosomal Recessive Congenital Ichthyosis from Turkey Open
View article: A Rare Familial Case of Harlequin Ichthyosis in Infant of a Diabetic Mother: a diagnostic and management challenge in Low middle income settings
A Rare Familial Case of Harlequin Ichthyosis in Infant of a Diabetic Mother: a diagnostic and management challenge in Low middle income settings Open
View article: Neonatal Epidermolytic Ichthyosis Caused by a <scp>KRT10</scp> Mutation (c.467G>A, p.Arg156His): A Case Report
Neonatal Epidermolytic Ichthyosis Caused by a <span>KRT10</span> Mutation (c.467G>A, p.Arg156His): A Case Report Open
We present a neonatal case of skin blisters and erythema. While epidermolysis bullosa was initially suspected, immunofluorescence antigen mapping and genetic testing confirmed epidermolytic ichthyosis, with a heterozygous pathogenic varian…
View article: Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings
Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings Open
D'Souza OK, Dukle SG, Naik R, et al. Oral Manifestations of Lamellar Ichthyosis: A Case Report of Two Siblings. Int J Clin Pediatr Dent 2025;18(5):606-609.
View article: The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases
The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases Open
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients. To broaden the knowledge of cli…
View article: 0568 UCA1 drives epidermolytic ichthyosis pathogenesis via miR-125a sponging and STAT3 dysregulation
0568 UCA1 drives epidermolytic ichthyosis pathogenesis via miR-125a sponging and STAT3 dysregulation Open
View article: Clinical Spectrum of Congenital Ichthyosis in a Moroccan Pediatric Study
Clinical Spectrum of Congenital Ichthyosis in a Moroccan Pediatric Study Open
Background: Congenital ichthyoses are rare genetic skin disorders characterized by abnormal keratinization, often present at birth and associated with various extracutaneous manifestations. Material and Methods: We conducted a retrospectiv…
View article: Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Persistent Hypercreatinekinasemia: Value of the Peripheral Blood Smear
Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Persistent Hypercreatinekinasemia: Value of the Peripheral Blood Smear Open
View article: Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report
Genotype–Phenotype Correlations, Mortality, and Clinical Insights in Keratitis–Ichthyosis–Deafness Syndrome: A Comprehensive Review and Case Report Open
Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the …
View article: Gene Therapies in Dermatological Diseases: A Breakthrough in Treatment
Gene Therapies in Dermatological Diseases: A Breakthrough in Treatment Open
Gene therapy involves introducing genetic material into cells to treat or prevent disease and offers highly targeted and potentially curative approaches for both inherited and acquired conditions. The skin is an especially suitable organ f…
View article: <b>PATIENT PERCEPTIONS AND ADVOCACY IN ICHTHYOSIS: A REVIEW OF PSYCHOSOCIAL AND SUPPORTIVE CARE MODELS </b>
<b>PATIENT PERCEPTIONS AND ADVOCACY IN ICHTHYOSIS: A REVIEW OF PSYCHOSOCIAL AND SUPPORTIVE CARE MODELS </b> Open
Background: Ichthyosis is a range of rare, genetically heterogeneous conditions that are skin disorders caused by over-scaling and hindrance in skin barrier. Clinical care has made a significant improvement however; patients experience ver…
View article: Harlequin Ichthyosis: A Case Report
Harlequin Ichthyosis: A Case Report Open
Harlequin ichthyosis (HI) is a genetic disorder caused by ABCA12 gene mutations, presenting with thick, scaly skin and deep fissures. Early recognition, intensive neonatal care, and multidisciplinary management are crucial for improving su…
View article: Biallelic <scp><i>ELOVL1</i></scp> Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis
Biallelic <span><i>ELOVL1</i></span> Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis Open
Background Very long chain fatty acids (VLCFAs) are an integral component of myelin and the epidermal water barrier. Variants in genes encoding enzymes responsible for catalyzing the first and rate limiting step in the production of VLCFAs…
View article: PA05 Two babies with self-improving collodion ichthyosis with <i>ALOX12B</i> mutations demonstrating novel diagnostic clinical signs
PA05 Two babies with self-improving collodion ichthyosis with <i>ALOX12B</i> mutations demonstrating novel diagnostic clinical signs Open
Baby C was born at 36 + 4 weeks by spontaneous vaginal delivery and was transferred to Oxford on day two of life. On examination she had a yellow parchment-like collodion with hyperkeratotic plaques over the torso with desquamation and fis…
View article: PA15 Harlequin ichthyosis: a multidisciplinary journey from antenatal to neonatal care
PA15 Harlequin ichthyosis: a multidisciplinary journey from antenatal to neonatal care Open
Harlequin ichthyosis is a very rare genodermatosis with a birth incidence of 1 in 300 000 births and a high mortality rate of 50% (Ahmed H, O’Toole E. Recent advances in the genetics and management of harlequin ichthyosis. Paediatr Dermato…
View article: Expanded Phenotypic Spectrum of Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome: A Rare Case Featuring Supraventricular Tachycardia and Tethered Spinal Cord
Expanded Phenotypic Spectrum of Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Keratoderma (CEDNIK) Syndrome: A Rare Case Featuring Supraventricular Tachycardia and Tethered Spinal Cord Open
View article: Deep molecular response on asciminib combined with imatinib in patient with chronic myeloid leukemia and ichthyosis resistant and intolerant to monotherapy with other TKIs
Deep molecular response on asciminib combined with imatinib in patient with chronic myeloid leukemia and ichthyosis resistant and intolerant to monotherapy with other TKIs Open
View article: Auricular Embryonal Rhabdomyosarcoma With Parotid Gland and Cervical Infiltration in a Pediatric Patient With Congenital Ichthyosis Vulgaris: A Case Report
Auricular Embryonal Rhabdomyosarcoma With Parotid Gland and Cervical Infiltration in a Pediatric Patient With Congenital Ichthyosis Vulgaris: A Case Report Open
Rhabdomyosarcoma (RMS), a rare pediatric soft tissue sarcoma, seldom involves the external ear. Congenital ichthyosis vulgaris (IV), a genetic disorder causing hyperkeratosis, has not been previously linked to RMS. We report the first case…
View article: Scaling the side effects: A case of apalutamide-induced ichthyosis
Scaling the side effects: A case of apalutamide-induced ichthyosis Open
View article: Bilateral renal vein thrombosis in a preterm with Netherton syndrome
Bilateral renal vein thrombosis in a preterm with Netherton syndrome Open
View article: Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report
Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report Open
Our findings emphasize the need for a multidisciplinary approach when evaluating patients with Xp22.31 deletions, extending beyond dermatologic assessment to include neurological and cardiological evaluations, even in the absence of overt …