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The Turkish Journal of Gastroenterology... Jan 2019Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils,...
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. Due to a mutation in the ABHD5 gene of the short arm of chromosome 3, lipid is stored in the granulocytes at various sites in the human body, such as the muscle, liver, eye, ear, central nervous system, and bone marrow. Clinically, the disease is presented with ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation. A 38-year-old male patient was referred to our Internal Medicine Clinic for consultation with laboratory findings as follows: high aspartate aminotransferase (AST; 203 U/L), alanine aminotransferase (ALT; 151 U/L), gamma-glutamyl transferase (GGT; 167 U/L), creatine kinase (CK; 1127 U/L) levels and low platelet levels (108000). After ultrasonography and gastroscopy, the patient was diagnosed with liver cirrhosis. Bilateral mixed-type hearing loss on audial tests and bilateral punctuate keratopathy, ectropion, and cataract in the left eye on ophthalmological tests were found. For the definitive diagnosis of Chanarin Dorfman syndrome, peripheral blood was examined, which revealed lipid accumulation in the neutrophils (Jordan's anomaly). We emphasize that if a patient has unusual findings, such as ichthyosis, hearing loss, hepatomegaly, splenomegaly, cirrhosis, cataract, keratopathy, myopathy, and mental retardation, the possibility of Chanarin Dorfman syndrome should be considered.
Topics: Adult; Cataract; Diagnosis, Differential; Fibrosis; Hearing Loss; Hepatomegaly; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Intellectual Disability; Lipid Metabolism, Inborn Errors; Male; Muscular Diseases; Splenomegaly
PubMed: 30457558
DOI: 10.5152/tjg.2018.18014 -
Archives of Dermatological Research Nov 2023Acquired ichthyosis (AI) is a rare, nonhereditary cutaneous disorder that has been associated with numerous neoplastic, infectious, drugs, endocrine, metabolic,... (Review)
Review
Acquired ichthyosis (AI) is a rare, nonhereditary cutaneous disorder that has been associated with numerous neoplastic, infectious, drugs, endocrine, metabolic, autoimmune, and malabsorptive diseases. Review all demographical, clinical, histological, and therapeutic features of AI and focus on all reported associated diseases. We performed a systematic literature review in Pubmed/Medline, Embase, and Cochrane collaboration databases, searching for all articles on AI, with no limits on publication date, participant age, sex or nationality. Eighty-four articles were included. Total number of included patients was 167 patients with a mean age at presentation of 39 years [range 0.5-85] and a sex ratio M:F of 5:2. The most common malignancy associated with AI is Hodgkin's lymphoma. AI occurred before, simultaneously or after the onset of malignancy or systemic disease. The severity of AI depends on the severity of the underlying disorder and regresses once the disease goes into remission and may also be a marker of disease recurrence or relapse. 8% have been reported to be drug related and all occurred weeks to months after drug intake and resolved after stopping or decreasing the dose of the drug. Data were derived from case reports and observational studies. Limitations include the accuracy of published data, potential patient selection, and reporting bias. AI can be associated with numerous systemic diseases and drugs. Physicians should be particularly alert to these associations to provide adequate screening and management of patients with AI.
Topics: Humans; Infant; Child, Preschool; Child; Adolescent; Young Adult; Adult; Middle Aged; Aged; Aged, 80 and over; Ichthyosis; Recurrence; Neoplasms
PubMed: 37422878
DOI: 10.1007/s00403-023-02668-5 -
The Journal of Dermatology Mar 2016Among 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... (Review)
Review
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. It is important to know the molecular genetics and pathomechanisms in order to establish an effective therapy and beneficial genetic counseling including a prenatal diagnosis.
Topics: Abnormalities, Multiple; Alopecia; Chondrodysplasia Punctata; Deafness; Female; Genetic Diseases, X-Linked; Hearing Loss, Sensorineural; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Keratitis; Limb Deformities, Congenital; Lipid Metabolism, Inborn Errors; Male; Multiple Sulfatase Deficiency Disease; Muscular Diseases; Netherton Syndrome; Photophobia; Refsum Disease; Sjogren-Larsson Syndrome; Syndrome; Trichothiodystrophy Syndromes
PubMed: 26945533
DOI: 10.1111/1346-8138.13284 -
Archives of Dermatological Research May 2020Inherited ichthyoses are a group of etiologically heterogeneous diseases that affect the function of the skin and that are classified as syndromic and non-syndromic... (Review)
Review
Inherited ichthyoses are a group of etiologically heterogeneous diseases that affect the function of the skin and that are classified as syndromic and non-syndromic entities. Irrespective of the type, all these disorders are generally produced by mutations in genes involved in a variety of cellular functions in the skin. These mutations lead to disruption of the stratum corneum and impairment of the skin barrier, producing clinical features such as hyperkeratosis, skin scaling, erythema, fissures, pruritus, inflammation, and skin pain. Despite advances in the knowledge of the pathogenesis of ichthyoses, there is, to our knowledge, no definitive cure for skin manifestations, and current treatments consist of moisturizers, emollients, and keratolytic agents. In this respect, the development of new formulations based on nanotechnology could be useful to enhance their therapeutic effectiveness. In this article, we provide a comprehensive description of pharmacological treatments for cutaneous manifestations in patients with inherited ichthyosis and discuss novel approaches with therapeutic potential for this purpose. Moreover, we offer an overview of toxicity concerns related to these treatments.
Topics: Administration, Cutaneous; Administration, Oral; Dermatologic Agents; Drug Therapy, Combination; Emollients; Humans; Ichthyosis; Keratolytic Agents; Mutation; Retinoids; Skin; Water Loss, Insensible
PubMed: 31624898
DOI: 10.1007/s00403-019-01994-x -
Transfusion Feb 2022
Review
Topics: Blood Banks; Blood Donors; Donor Selection; Humans; Ichthyosis
PubMed: 35037716
DOI: 10.1111/trf.16793 -
The Journal of Dermatological Treatment Dec 2024In dry skin (DS), skin-barrier function is easily disturbed and moisturizing factors in the stratum corneum are reduced. Despite being a common condition, DS is often... (Review)
Review
In dry skin (DS), skin-barrier function is easily disturbed and moisturizing factors in the stratum corneum are reduced. Despite being a common condition, DS is often overlooked in patients with advanced age or comorbid diseases. In September 2022, specialists in dermatology and skin care met to discuss unmet needs and management of patients with DS with existing medical conditions or DS induced by ongoing pharmacological treatments. There was consensus about the need to improve the current understanding and management of DS in patients with comorbidities, including type 2 diabetes, chronic kidney disease, radiodermatitis, and photodamaged skin. Clinical guidance related to optimal treatment of DS in patients with advanced age or comorbid diseases is needed. Dexpanthenol-containing emollients have been shown to provide rapid relief from the symptoms and clinical signs of skin inflammation and are well-tolerated and effective in terms of moisturizing and soothing DS and maintaining skin-barrier function. Thus, dexpanthenol-containing emollients may play an important role in future management of DS. Further research is needed to elucidate the efficacy of dexpanthenol across the spectrum of DS, irrespective of comorbidity status or age.
Topics: Humans; Emollients; Diabetes Mellitus, Type 2; Ichthyosis; Pharmaceutical Vehicles; Comorbidity; Pantothenic Acid
PubMed: 38565198
DOI: 10.1080/09546634.2024.2326171 -
Clinical and Experimental Dermatology Aug 2017
Topics: Female; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Infant; Lipid Metabolism, Inborn Errors; Muscular Diseases; Pruritus
PubMed: 28636073
DOI: 10.1111/ced.13163 -
Clinical Genetics Jun 2017Inherited ichthyoses are rare disorders in terms of patient numbers, but abundant in terms of clinical-genetic subtypes. These disorders are often associated with severe... (Review)
Review
Inherited ichthyoses are rare disorders in terms of patient numbers, but abundant in terms of clinical-genetic subtypes. These disorders are often associated with severe systemic manifestations, in addition to significant medical, cosmetic and social problems. There are 17 subtypes of syndromic ichthyosis identified so far and most patients with these syndromes are living in countries with high consanguinity rates. Frequently, clinicians cannot make a definitive diagnosis and patients are not managed properly owing to the rarity and complexity of these disorders. These difficulties make this group of ichthyosis and the patients living with them 'orphan'. After skin and skin appendages, nervous system is the most frequently involved system in ichthyosis syndromes. Thus, association of ichthyosis with neurological symptoms provides an important clue for diagnosis. In this article, we aim to increase clinicians' comprehension of ichthyosis syndromes by providing a symptomatology-based approach based on this observation. Additionally, we provide a review of ichthyosis syndromes, with special emphasis on neurological symptoms, hoping to attract interest to this complicated field.
Topics: Consanguinity; Humans; Ichthyosis; Nervous System; Rare Diseases; Skin
PubMed: 27377997
DOI: 10.1111/cge.12828 -
Nederlands Tijdschrift Voor Geneeskunde 2016A newborn had a tight, dry skin with multiple fissures, an eclabium and ectropion. Breathing was compromised and regulation of body temperature was impaired. We...
A newborn had a tight, dry skin with multiple fissures, an eclabium and ectropion. Breathing was compromised and regulation of body temperature was impaired. We described the patient as a 'collodion baby'. After genetic investigation the diagnosis congenital ichtyosis, recessive type 1 was made. At 12 months of age, the skin symptoms were significantly diminished.
Topics: Ectropion; Humans; Ichthyosis, Lamellar; Infant, Newborn; Male
PubMed: 27438390
DOI: No ID Found -
Acta Dermato-venereologica Mar 2020The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the... (Review)
Review
The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of more than 50 types of ichthyosis have almost invariably uncovered errors in the biosynthesis of epidermal lipids or structural proteins essential for normal skin barrier function. The barrier abnormality per se may elicit epidermal inflammation, hyperproliferation and hyperkeratosis, potentially contributing to the patient's skin symptoms. Despite this and other new knowledge about pathomechanisms, treatment of ichthyosis often remains unsatisfactory. This review highlights a series of approaches used to elucidate the pathobiology and clinical consequences of different types of ichthyosis, and related diseases with the ultimate goal of finding new and better treatments.
Topics: Drug Development; Epidermis; Genomics; Humans; Ichthyosis; Mutation; Water Loss, Insensible
PubMed: 32147743
DOI: 10.2340/00015555-3433