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JAMA Dermatology Feb 2023
Topics: Humans; Ichthyosis, Lamellar; Ectropion
PubMed: 36576743
DOI: 10.1001/jamadermatol.2022.5112 -
Ugeskrift For Laeger Apr 2020Ichthyosis – also called fish scale disease – is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are...
Ichthyosis – also called fish scale disease – is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists. Ichthyosis vulgaris (IV), is the most common type, affecting 1:250 individuals. Diagnosing IV can be challenging, because its clinical features are subject to great variation, ranging from mild cases with slight xerosis to severe cases with marked scaling and formation of fissures. In this review, IV and its most relevant differential diagnoses, X-linked ichthyosis, autosomal recessive congenital ichthyosis and acquired ichthyosis are reviewed.
Topics: Humans; Ichthyosis Vulgaris
PubMed: 32400366
DOI: No ID Found -
Der Internist Aug 2019Various specific skin alterations can occur in patients with malignant diseases. If these skin diseases occur as associated symptoms of a malignant process, they are... (Review)
Review
Various specific skin alterations can occur in patients with malignant diseases. If these skin diseases occur as associated symptoms of a malignant process, they are called paraneoplastic. In this overview, obligate and frequent facultative paraneoplastic skin diseases are assigned according to the triggering type of malignancy. Some of the processes predominantly show a link with malignant diseases of the digestive tract, e.g. acanthosis nigricans, florid cutaneous papillomatosis, necrolytic migratory erythema, Leser-Trélat syndrome, palmoplantar keratoderma, panniculitis and pityriasis rubra pilaris. Others are predominantly associated with a hematolymphoid malignoma, e.g. acquired ichthyosis, exfoliative erythroderma, necrobiotic xanthogranuloma, paraneoplastic pemphigus, plane xanthoma, pyoderma gangrenosum, scleromyxedema, Sweet syndrome and leukocytoclastic vasculitis. In a third group paraneoplastic skin diseases are pooled in association with other malignancies, e.g. Trousseau's syndrome, dermatomyositis, erythema gyratum repens, hypertrichosis lanuginosa acquisita and papuloerythroderma of Ofuji. In order to initiate targeted diagnostics for detection of an underlying malignant disease, it is essential that accomplished physicians recognize the skin diseases that represent obligate or potential paraneoplasms as such.
Topics: Acanthosis Nigricans; Dermatomyositis; Erythema; Humans; Ichthyosis; Paraneoplastic Syndromes; Skin Diseases
PubMed: 31273399
DOI: 10.1007/s00108-019-0636-1 -
The Pan African Medical Journal 2021
Topics: Collodion; Humans; Ichthyosis; Ichthyosis, Lamellar; Infant
PubMed: 34804344
DOI: 10.11604/pamj.2021.40.77.26789 -
Biomedical Papers of the Medical... Dec 2020Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a... (Review)
Review
Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clinical manifestations of the individual types vary as the patient ages. Currently, the diagnosis of congenital ichthyoses is based on molecular analysis, which also allows a complete genetic counseling and genetic prevention. It is appropriate to refer the patients to specialized medical centers, where the cooperation of a neonatologist, a pediatric dermatologist, a geneticist and other specialists is ensured.
Topics: Adolescent; Age Factors; Child; Child, Preschool; Female; Genetic Predisposition to Disease; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis, X-Linked; Infant; Infant, Newborn; Male; Molecular Biology; Mutation; Symptom Assessment
PubMed: 33087941
DOI: 10.5507/bp.2020.050 -
La Clinica Terapeutica 2023Genodermatoses are rare heterogeneous genetic skin diseases with multiorgan involvement. They severely impair an individual's well-being and can also lead to early death. (Review)
Review
BACKGROUND
Genodermatoses are rare heterogeneous genetic skin diseases with multiorgan involvement. They severely impair an individual's well-being and can also lead to early death.
METHODS
During the progress of this review, we have implemented a targeted research approach, diligently choosing the most relevant and exemplary articles within the subject matter. Our method entailed a systematic exploration of the scientific literature to ensure a compre-hensive and accurate compilation of the available sources.
RESULTS
Among genodermatoses, X-linked ones are of particular importance and should always be considered when pediatric males are affected. Regardless of other syndromic forms without prevalence of skin symptoms, X-linked genodermatoses can be classified in three main groups: keratinization defects, pigmentation defects, and inflammatory skin diseases. Typical examples are dyskeratosis congenita, keratosis follicularis spinulosa decalvans, hypohidrotic ectodermal dysplasia, chondrodysplasia punctata, hypohidrotic ectodermal dysplasia, incontinentia pigmenti, chronic granulomatous disease, CHILD syndrome and ichthyosis. In this field, genetic diagnosis of the specific disease is important, also considering that numerous clinical trials of orphan drugs and genetic therapies are being proposed for these rare genetic diseases.
CONCLUSIONS
Thus, this chapter starts from clinical to molecular testing and ends with a review of all clinical trials on orphan drugs and gene therapy for genodermatoses.
Topics: Male; Humans; Child; Ectodermal Dysplasia 1, Anhidrotic; Ichthyosis; Skin Diseases, Genetic; Genetic Diseases, X-Linked; Skin Neoplasms
PubMed: 37994770
DOI: 10.7417/CT.2023.2493 -
Pharmacological Reviews May 2023The primary function of human sulfotransferase 2B1b (SULT2B1b) is to sulfonate cholesterol and closely related sterols. SULT2B1b sterols perform a number of essential... (Review)
Review
The primary function of human sulfotransferase 2B1b (SULT2B1b) is to sulfonate cholesterol and closely related sterols. SULT2B1b sterols perform a number of essential cellular functions. Many are signaling molecules whose activities are redefined by sulfonation-allosteric properties are switched "on" or "off," agonists are transformed into antagonists, and vice versa. Sterol sulfonation is tightly coupled to cholesterol homeostasis, and sulfonation imbalances are causally linked to cholesterol-related diseases including certain cancers, Alzheimer disease, and recessive X-linked ichthyosis-an orphan skin disease. Numerous studies link SULT2B1b activity to disease-relevant molecular processes. Here, these multifaceted processes are integrated into metabolic maps that highlight their interdependence and how their actions are regulated and coordinated by SULT2B1b oxysterol sulfonation. The maps help explain why SULT2B1b inhibition arrests the growth of certain cancers and make the novel prediction that SULT2B1b inhibition will suppress production of amyloid (A) plaques and tau fibrils while simultaneously stimulating A plaque phagocytosis. SULT2B1b harbors a sterol-selective allosteric site whose structure is discussed as a template for creating inhibitors to regulate SULT2B1b and its associated biology. SIGNIFICANCE STATEMENT: Human sulfotransferase 2B1b (SULT2B1b) produces sterol-sulfate signaling molecules that maintain the homeostasis of otherwise pro-disease processes in cancer, Alzheimer disease, and X-linked ichthyosis-an orphan skin disease. The functions of sterol sulfates in each disease are considered and codified into metabolic maps that explain the interdependencies of the sterol-regulated networks and their coordinate regulation by SULT2B1b. The structure of the SULT2B1b sterol-sensing allosteric site is discussed as a means of controlling sterol sulfate biology.
Topics: Humans; Sterols; Alzheimer Disease; Amyloid beta-Peptides; Sulfotransferases; Sulfates; Ichthyosis
PubMed: 36549865
DOI: 10.1124/pharmrev.122.000679 -
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 -
Journal of Drugs in Dermatology : JDD Aug 2023Kresch M, Guénin S, Mubasher A, et al. Talquetamab-induced Grover’s disease. J Drugs Dermatol. 2023;22(8):828-829. doi:10.36849/JDD.7170.
Kresch M, Guénin S, Mubasher A, et al. Talquetamab-induced Grover’s disease. J Drugs Dermatol. 2023;22(8):828-829. doi:10.36849/JDD.7170.
Topics: Humans; Acantholysis; Ichthyosis
PubMed: 37556510
DOI: 10.36849/jdd.7170 -
International Journal of Clinical... Dec 2020Urea is a major component of many daily skincare products which is widely used. Its role in the treatment of, for example atopic skin, atopic eczema, psoriasis and...
Urea is a major component of many daily skincare products which is widely used. Its role in the treatment of, for example atopic skin, atopic eczema, psoriasis and ichthyosis, is undisputed. However, the mode of action of urea is partly still elusive and goes far beyond its assumed passive role. This article shall elucidate biophysical characteristics and properties of molecular biology that explain how urea affects healthy skin and exerts efficacy in various skin diseases. Knowledge about the mode of action of urea enables physicians to better understandthe appropriate use of urea in clinical routine.
Topics: Dermatitis, Atopic; Humans; Ichthyosis; Psoriasis; Skin; Urea
PubMed: 33249710
DOI: 10.1111/ijcp.13569