-
The Lancet. Rheumatology Aug 2022
Topics: Humans; Immunoglobulin G4-Related Disease; Ichthyosis
PubMed: 38294009
DOI: 10.1016/S2665-9913(21)00215-0 -
Ophthalmic Genetics Aug 2019: Sjögren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by a distinctive crystalline maculopathy, congenital ichthyosis, spasticity and intellectual... (Review)
Review
: Sjögren-Larsson Syndrome (SLS) is a rare genetic disorder characterized by a distinctive crystalline maculopathy, congenital ichthyosis, spasticity and intellectual disability. We review the genetic, biochemical and clinical aspects of SLS with a particular focus on the ophthalmologic features of the disease.: Published reports of SLS are combined with clinical experience to provide an overview of this disease.: SLS is caused by bi-allelic mutations in ALDH3A2, which codes for fatty aldehyde dehydrogenase, a key enzyme needed for the metabolism of long-chain aliphatic aldehydes and alcohols. SLS patients display perifoveal crystalline inclusions (glistening white dots) that appear in early childhood, vary from sparse to florid and are located in the inner retina. Other findings include retinal thinning, cystic macular degeneration, retinal pigment epithelium atrophy and deficiency of macular pigment. Photophobia is common. Visual evoked potentials are often absent or delayed, whereas electroretinography studies are usually normal. Mild-moderate deficits in visual acuity are common but vision is usually preserved into adulthood. The maculopathy is thought to be due to the accumulation of fatty aldehydes and/or alcohols, which alter membrane function. Defective macular pigment metabolism may also contribute to a unique susceptibility to photo-oxidative damage in the retina.: The distinctive retinal phenotype, together with the neurologic and cutaneous symptoms, allows the ophthalmologist to reliably diagnose SLS. Although no effective treatment exists for the ocular symptoms, emerging insight into the pathogenic mechanisms at play in the eye promises to bring effective therapy for SLS in the future.
Topics: Animals; Eye Diseases; Humans; Phenotype; Sjogren-Larsson Syndrome
PubMed: 31512987
DOI: 10.1080/13816810.2019.1660379 -
The British Journal of Dermatology Jun 2021Valentin 2021; :1123–1131.
-
Archives of Dermatological Research May 2020Hereditary ichthyoses include a group of diseases characterized by hyperkeratosis, scaling, generalized xerosis, and is frequently associated with erythroderma. They are... (Review)
Review
Hereditary ichthyoses include a group of diseases characterized by hyperkeratosis, scaling, generalized xerosis, and is frequently associated with erythroderma. They are classified as syndromic and non-syndromic entities. The monitoring of the severity of ichthyosis requires different strategies for immediate analysis, which can comprise visual analogue scales or non-invasive quantitative methods, which collect information on disease progression that may contribute to the management of ichthyosis and aid in delineating clinical trials. In this article, we present a comprehensive review of the existing visual analogue scales, their validation, and their use in studies of disease severity and clinical trials. Interestingly, after many years of study, to date there is not a unanimously accepted tool for assessing the harshness of clinical features. Therefore, we discuss the perspectives of some non-invasive quantitative methods and strategies employed in clinical studies performed in patients with ichthyosis. Advances in these methods provide a rationale of their potential application in the evaluation of ichthyosis severity. Our purpose is to show an overview of non-invasive methodologies for the study of the harshness of ichthyosis.
Topics: Clinical Trials as Topic; Disease Progression; Elasticity; Humans; Ichthyosis; Severity of Illness Index; Skin; Treatment Outcome; Validation Studies as Topic; Visual Analog Scale; Water Loss, Insensible
PubMed: 31624897
DOI: 10.1007/s00403-019-01987-w -
The Journal of Pediatrics Dec 2023
Topics: Infant, Newborn; Humans; Hyperkeratosis, Epidermolytic; Skin; Mutation
PubMed: 37657660
DOI: 10.1016/j.jpeds.2023.113711 -
Journal of Neonatal-perinatal Medicine 2020Biotinidase deficiency is an inherited disorder of biotin metabolism that is untreated may present within the first few month of life.
INTRODUCTION
Biotinidase deficiency is an inherited disorder of biotin metabolism that is untreated may present within the first few month of life.
OBJECTIVE
We report the exceptional observation of a biotinidase deficiency in Morocco. The rarity of this pathology, its age of onset, its mode of revelation and the lack of treatment in Morocco make the particularity of this observation.
OBSERVATION
A newborn child born from a 24-year-old mother, followed by an estimated pregnancy of 37 weeks of amenorrhea according to the Farr score (morphological maturation score used for the dating of the pregnancy term). The infant presented at 7 days of life with a cutaneous-mucous eruption with icithiosic dry erythroderma of interest to the trunk, the face, the scalp associated with alopecia and depilation of the eyebrow. The biotinoidase deficiency was confirmed by its low serum concentration at 49 nka / l. The newborn died at 20 days of life before starting the specific treatment.
CONCLUSION
Biotinidase deficiency is a rare condition requiring early screening and rapid management. The delay in diagnosis and the unavailability of treatment in Morocco can have fatal consequences.
Topics: Age of Onset; Alopecia; Biotin; Biotinidase Deficiency; Consanguinity; Dermatitis, Exfoliative; Eyebrows; Fatal Outcome; Health Services Accessibility; Humans; Ichthyosis; Infant, Newborn; Intensive Care Units, Neonatal; Male; Morocco; Muscle Hypotonia; Myoclonus; Rare Diseases; Vitamin B Complex
PubMed: 31594257
DOI: 10.3233/NPM-180130 -
Journal of Clinical Sleep Medicine :... Jun 2021Ichthyosis, as a debilitating disease, can cause significant physical and psychological damage to children and their families, which also includes sleep impairment. We...
Ichthyosis, as a debilitating disease, can cause significant physical and psychological damage to children and their families, which also includes sleep impairment. We call attention to the importance of evaluating sleep complaints in these patients, given the scarcity of studies on this subject. As the disease commonly results in severe skin injury, it can affect social relationships and the life and sleep quality of the individuals, leading to significant psychologic damage that can persist throughout their lives.
Topics: Child; Humans; Ichthyosis; Sleep
PubMed: 33682676
DOI: 10.5664/jcsm.9208 -
Journal Der Deutschen Dermatologischen... Nov 2019Xerosis cutis (also referred to as xeroderma, dry skin, asteatosis) affects more than 10 million individuals in Germany. It is among the most common dermatological...
BACKGROUND AND RATIONALE
Xerosis cutis (also referred to as xeroderma, dry skin, asteatosis) affects more than 10 million individuals in Germany. It is among the most common dermatological diagnoses and a cardinal symptom of many dermatological, internal and neurological diseases. Even though it has been established that basic skin care plays a significant role in the management of patients with xerosis cutis, there are as yet no evidence-based algorithms for diagnosis and treatment.
OBJECTIVE
The present position paper provides physicians across all specialties with a practical, symptom-based approach to the prevention, diagnosis and treatment of xerosis cutis.
METHODS
Within a structured decision-making process, a panel of experienced dermatologists first defined questions relevant to everyday clinical practice, which were then addressed by a systematic review of the literature. Based on the evidence available as well as expert consensus, diagnostic and treatment algorithms were subsequently developed and agreed upon.
RESULTS
Xerosis cutis is generally diagnosed on clinical grounds. Possible trigger factors must be avoided, and comorbidities should be adequately and specifically treated. Suitable skin care products should be chosen with a view to improving skin hydration and restoring its barrier function. They should therefore contain both rehydrating and lipid-replenishing components. The "drier" the skin appears, the greater the lipid content should be (preferably using water-in-oil formulations). The choice of ingredients is based on a patient's individual symptoms, such as scaling (e.g., urea), fissures/rhagades (e.g., urea or dexpanthenol), erythema (e.g., licochalcone A) and pruritus (e.g., polidocanol). Other factors to be considered include the site affected and patient age. Ingredients or rather combinations thereof for which there is good clinical evidence should be preferentially used. The best evidence by far is available for urea, whose efficacy in the treatment of xerosis is further enhanced by combining it with other natural moisturizing components and ceramides. The "xerosimeter" is a tool developed in an effort to facilitate patient management and for training purposes. It not only includes practical tools for diagnosis and follow-up but also a classification of ingredients and a structured treatment algorithm.
CONCLUSION
The structured symptom- and evidence-based approach proposed herein contains a road map for diagnosis and treatment of xerosis cutis. It aims to raise awareness in terms of prevention and early treatment of this condition and may thus improve quality of life and prevent potential sequelae.
Topics: Germany; Humans; Ichthyosis; Prurigo; Pruritus; Quality of Life
PubMed: 31738016
DOI: 10.1111/ddg.13906 -
The Journal of International Medical... Oct 2020Recessive X-linked ichthyosis (RXLI) caused by deficiency of the steroid sulfatase gene () has a reported prevalence of 1/2000 to 1/6000. The present study aimed to...
OBJECTIVE
Recessive X-linked ichthyosis (RXLI) caused by deficiency of the steroid sulfatase gene () has a reported prevalence of 1/2000 to 1/6000. The present study aimed to characterize the phenotypes and genotypes of two Chinese families with RXLI.
METHODS
The patients were referred to the Family Planning Research Institute of Hunan Province for genetic counseling. Their skin phenotypes were photographed, and venous blood was drawn and used for chromosomal microarray analysis (CMA).
RESULTS
The skin phenotype of the proband from the first family was characterized by generalized skin dryness and scaling, with noticeable dark brown, polygonal scales on his trunk and extensor surfaces of his extremities. The proband from the second family had an atypical phenotype showing mild skin dryness over his entire body, slight scaling on his abdomen, and small skin fissures on his arms and legs. No mental disability or developmental anomaly was noted in either proband. CMA revealed that both probands carried a 1.4-Mb deletion on chromosome Xp22.31 involving four Online Mendelian Inheritance in Man-listed genes including .
CONCLUSIONS
Our findings add knowledge to the genotype and phenotype spectrum of RXLI, which may be helpful in genetic counseling and prenatal diagnosis.
Topics: China; Female; Genetic Testing; Humans; Ichthyosis, X-Linked; Pregnancy; Skin; Steryl-Sulfatase
PubMed: 33026262
DOI: 10.1177/0300060520962292 -
BMJ Case Reports Feb 2023A teenage boy who was previously diagnosed to have congenital ichthyosis presented to the eye clinic with complaints of gradually decreasing vision in both eyes since...
A teenage boy who was previously diagnosed to have congenital ichthyosis presented to the eye clinic with complaints of gradually decreasing vision in both eyes since childhood. The best-corrected distance visual acuity was 20/125 in the right eye and 20/40 in the left eye. Clinical examination revealed developmental cataracts in both eyes. He underwent cataract surgery in the right eye and visual acuity improved to 20/25. Hence, we conclude that congenital ichthyosis can be associated with developmental cataracts. Cataract surgery helps in restoring vision in those with visually significant cataracts.
Topics: Male; Adolescent; Humans; Child; Ichthyosis, Lamellar; Ichthyosiform Erythroderma, Congenital; Eye; Cataract; Cataract Extraction
PubMed: 36805864
DOI: 10.1136/bcr-2021-248550