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The British Journal of Dermatology Jul 2023
Topics: Humans; Toll-Like Receptor 2; Ichthyosis; Ichthyosis, Lamellar; Phenotype; Health Services
PubMed: 37418647
DOI: 10.1093/bjd/ljad177 -
Molecular Genetics and Metabolism 2021Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The... (Review)
Review
Cutaneous signs and symptoms may facilitate the diagnosis or can help in identifying complications or side effects of overtreatment of inherited metabolic diseases. The principal manifestations can be grouped into vascular lesions, ichthyosis, papular and nodular skin lesions, abnormal pigmentation, photosensitivity, skin laxity, hair shaft involvement, and nail abnormalities. We have summarized associations of these cutaneous signs and symptoms in 252 inherited metabolic diseases. This represents the sixth of a series of articles attempting to create and maintain a comprehensive list of clinical and metabolic differential diagnoses according to system involvement.
Topics: Diagnosis, Differential; Humans; Ichthyosis; Metabolic Diseases; Metabolism, Inborn Errors; Overtreatment; Skin; Skin Diseases
PubMed: 34304991
DOI: 10.1016/j.ymgme.2021.07.005 -
Journal of Preventive Medicine and... Sep 2020Ichthyoses include a heterogeneous group of skin diseases often characterized by persistent scaling and hyperkeratosis with variable erythema, pruritus, and sweating... (Review)
Review
INTRODUCTION
Ichthyoses include a heterogeneous group of skin diseases often characterized by persistent scaling and hyperkeratosis with variable erythema, pruritus, and sweating impairment. The aim of our review was to assess the quality of life in patients with ichthyosis.
METHODS
In July 2018 we performed a systematic search in the electronic database PubMed (MEDLINE). The MESH term "quality of life" was combined, through the Boolean operator AND with the key word "ichthyosis". We considered eligible for the systematic review studies written in English.
RESULTS
The literature search yielded 63 publications, but 7 studies were included in the review. Studies were published in 2003-2014 and involved a minimum of 10 and a maximum of 235 patients. Authors used 5 types of tools: Dermatology Life Quality Index (DLQI), Dermatitis Family Impact Questionnaire (DFI), Nottingham Health Profile (NHP) questionnaire, Short Form Questionnaire 36 and 12 (SF-36, SF-12). Many patients reported worse scores than general population. Patients referred physical problems related to pain (which negatively influenced the mobility).
CONCLUSIONS
Ichthyosis considerably impaired the QoL, especially for paediatric patients. Further studies and efforts should be done to manage and treat the pain.
Topics: Humans; Ichthyosis; Quality of Life; Surveys and Questionnaires
PubMed: 33150225
DOI: 10.15167/2421-4248/jpmh2020.61.3.1450 -
MMW Fortschritte Der Medizin Nov 2023
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Acta Dermato-venereologica Mar 2020Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are defined on the basis of clinical and genetic features and are mainly... (Review)
Review
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are defined on the basis of clinical and genetic features and are mainly divided into non-syndromic and syndromic ichthyoses. Numerous genes, which encode for corresponding proteins, are involved in the normal differentiation of keratinocytes (cornification) and participate in the formation of a functional epidermal barrier. To date, mutations in more than 50 genes are known to result in various types of ichthyoses. Thanks to modern genetic diagnostic methods based on targeted next generation sequencing (NGS), approximately 80-90% of cases can be resolved at present. Further sequencing methods covering the whole exome (WES) or whole genome (WGS) will obviously elucidate another portion of the remaining unknown ichthyoses in the future.
Topics: Alopecia; Chondrodysplasia Punctata; Congenital Disorders of Glycosylation; Humans; Ichthyosis; Ichthyosis Vulgaris; Ichthyosis, X-Linked; Mutation; Photophobia; Skin Diseases, Genetic; Skin Physiological Phenomena
PubMed: 32147747
DOI: 10.2340/00015555-3432 -
The British Journal of Dermatology Oct 2022The ichthyoses are rare genetic keratinizing disorders that share the characteristics of an impaired epidermal barrier and increased risk of microbial infections....
BACKGROUND
The ichthyoses are rare genetic keratinizing disorders that share the characteristics of an impaired epidermal barrier and increased risk of microbial infections. Although ichthyotic diseases share a T helper (Th) 17 cell immune signature, including increased expression of antimicrobial peptides, the skin microbiota of ichthyoses is virtually unexplored.
OBJECTIVES
To analyse the metagenome profile of skin microbiome for major congenital ichthyosis subtypes.
METHODS
Body site-matched skin surface samples were collected from the scalp, upper arm and upper buttocks of 16 healthy control participants and 22 adult patients with congenital forms of ichthyosis for whole metagenomics sequencing analysis.
RESULTS
Taxonomic profiling showed significant shifts in bacteria and fungi abundance and sporadic viral increases across ichthyosis subtypes. Cutibacterium acnes and Malassezia were significantly reduced across body sites, consistent with skin barrier disruption and depletion of lipids. Microbial richness was reduced, with specific increases in Staphylococcus and Corynebacterium genera, as well as shifts in fungal species, including Malassezia. Malassezia globosa was reduced at all body sites, whereas M. sympodialis was reduced in the ichthyotic upper arm and upper buttocks. Malassezia slooffiae, by contrast, was strikingly increased at all body sites in participants with congenital ichthyosiform erythroderma (CIE) and lamellar ichthyosis (LI). A previously undescribed Trichophyton species was also detected as sporadically colonizing the skin of patients with CIE, LI and epidermolytic ichthyosis subtypes.
CONCLUSIONS
The ichthyosis skin microbiome is significantly altered from healthy skin with specific changes predominating among ichthyosis subtypes. Skewing towards the Th17 pathway may represent a response to the altered microbial colonization in ichthyosis. What is already known about this topic? The skin microbiome of congenital ichthyoses is largely unexplored. Microbes play an important role in pathogenesis, as infections are common. The relative abundances of staphylococci and corynebacteria is increased in the cutaneous microbiome of patients with Netherton syndrome, but extension of these abundances to all congenital ichthyoses is unexplored. What does this study add? A common skin microbiome signature was observed across congenital ichthyoses. Distinct microbiome features were associated with ichthyosis subtypes. Changes in microbiome may contribute to T helper 17 cell immune polarization. What is the translational message? These data provide the basis for comparison of the microbiome with lipidomic and transcriptomic alterations in these forms of ichthyosis and consideration of correcting the dysbiosis as a therapeutic intervention.
Topics: Adult; Humans; Ichthyosiform Erythroderma, Congenital; Ichthyosis; Ichthyosis, Lamellar; Lipids; Microbiota; Skin
PubMed: 35633118
DOI: 10.1111/bjd.21687 -
International Journal of Nursing Studies Aug 2017Pressure ulcers are a serious health problem in medical and nursing care. Therefore, effective prevention is crucial. Major pressure ulcer risk factors have been...
BACKGROUND
Pressure ulcers are a serious health problem in medical and nursing care. Therefore, effective prevention is crucial. Major pressure ulcer risk factors have been identified but the particular role of dry skin (xerosis cutis) is unclear.
OBJECTIVES
To investigate possible associations between dry skin and pressure ulcers focusing on the sacrum/trochanter and at heel/ankle skin areas.
DESIGN
Two multicenter cross-sectional studies.
SETTINGS/PARTICIPANTS
In 2014 and 2015 thirty nursing homes and thirteen hospitals in Germany participated. In total 3837 participants were included. Mean age was 76.1 (SD 15.5) years.
METHODS
Skin assessments and data collection were performed by trained nurses based on a standardized data collection form. Descriptive comparisons and multilevel logistic regressions predicting pressure ulcers at sacrum/trochanter and ankle/heel were conducted.
RESULTS
The prevalence of skin dryness at the trunk was significantly higher for subjects with pressure ulcers category 2+ at the sacral area compared to without (39.0% vs. 24.4%, p=0.010). Adjusted to demographic variables, mobility and type of institution dry skin at the trunk was no longer associated with pressure ulceration (OR 1.11 (95% CI 0.62-2.00)). 71.9% of patients with heel/ankle pressure ulcers category 2+ were affected by dry skin at legs or feet, compared to 42.8% of subjects without pressure ulcers (p<0.001). In the adjusted analysis the OR was 1.85 (95% CI 0.83-4.14).
CONCLUSIONS
Study results indicate that dry skin at the feet may be considered as a risk factor for heel pressure ulcer development. Skin dryness may be less important for sacral pressure ulcers. Therefore, the variable skin status should be better defined in future studies and pressure ulcer risk models. Results further support differences in pressure ulcer aetiologies between anatomical locations.
Topics: Aged; Aged, 80 and over; Cross-Sectional Studies; Female; Germany; Humans; Ichthyosis; Male; Middle Aged; Pressure Ulcer; Prevalence; Risk Factors
PubMed: 28535399
DOI: 10.1016/j.ijnurstu.2017.05.011 -
Molecular Genetics & Genomic Medicine Dec 2023Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are...
BACKGROUND
Very long-chain fatty acids (VLCFAs) composed of more than 20 carbon atoms are essential in the biosynthesis of cell membranes in the brain, skin, and retina. VLCFAs are elongated beyond 28 carbon atoms by ELOVL4 enzyme. Variants in ELOVL4 are associated with three Mendelian disorders: autosomal dominant (AD) Stargardt-like macular dystrophy type 3, AD spinocerebellar ataxia, and autosomal recessive disorder congenital ichthyosis, spastic quadriplegia and impaired intellectual development (ISQMR). Only seven subjects from five unrelated families with ISQMR have been described, all of which have biallelic single-nucleotide variants.
METHODS
We performed clinical exome sequencing on probands from four unrelated families with neuro-ichthyosis.
RESULTS
We identified three novel homozygous ELOVL4 variants. Two of the families originated from the same Saudi tribe and had the exact homozygous exonic deletion in ELOVL4, while the third and fourth probands had two different novel homozygous missense variants. Seven out of the eight affected subjects had profound developmental delay, epilepsy, axial hypotonia, peripheral hypertonia, and ichthyosis. Delayed myelination and corpus callosum hypoplasia were seen in two of five subjects with brain magnetic rosonance imaging and cerebral atrophy in three.
CONCLUSION
Our study expands the allelic spectrum of ELOVL4-related ISQMR. The detection of the same exonic deletion in two unrelated Saudi family from same tribe suggests a tribal founder mutation.
Topics: Humans; Mutation; Macular Degeneration; Retina; Ichthyosis; Ichthyosis, Lamellar; Carbon; Eye Proteins; Membrane Proteins
PubMed: 37592902
DOI: 10.1002/mgg3.2256 -
International Journal of Dermatology May 2020Grover disease (GD) is a benign eruption that causes a papulovesicular rash on the trunk and proximal extremities. It often resolves spontaneously but can follow a more... (Review)
Review
Grover disease (GD) is a benign eruption that causes a papulovesicular rash on the trunk and proximal extremities. It often resolves spontaneously but can follow a more chronic and fluctuating course that may last several years. Although the etiology remains unknown, several associated triggers have been identified including heat and sweating, cool and dry air, renal failure, malignancy, and the initiation of several drugs. Since the disease tends to resolve on its own, management is aimed at disease prevention and symptomatic relief. First-line therapy includes topical steroids and vitamin D analogues with adjuvant antihistamines. In more severe cases that are refractory to less aggressive therapy, systemic corticosteroids, retinoids, and phototherapy may lead to successful resolution. Novel therapies are few and have little evidence but involve innovative use of light therapy and immune modulators. Herein, we review the literature and new trends of GD with a focus on established and novel treatments.
Topics: Acantholysis; Administration, Cutaneous; Administration, Oral; Darier Disease; Dermoscopy; Diagnosis, Differential; Drug Therapy, Combination; Emollients; Glucocorticoids; Histamine Antagonists; Humans; Hyperpigmentation; Ichthyosis; Pemphigus; Pemphigus, Benign Familial; Photochemotherapy; Retinoids; Skin; Skin Diseases, Genetic; Skin Diseases, Papulosquamous; Vitamin D
PubMed: 31724740
DOI: 10.1111/ijd.14700 -
Anais Brasileiros de Dermatologia 2015Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year...
Epidermolytic hipercetarose is a rare genodermatosis, with a prevalence of 1:100.000 to 1:300.000, with autosomal dominant inheritance. We report the case of a 5 year old girl who presented an hypertrophic verrucous plaques in the neck, under arm, buttocks, knees, pelvis, legs, dorsum of the right foot and elbows. Histological examination of the skin lesions showed typical changes of epidermolytic hyperkeratosis. Because it is an autosomal dominant disorder with complete penetrance, the individual carrying the mutation will necessarily develop the disease. However, in 50% of cases postzygotic mutation occur. The case report emphasizes early diagnosis and differential diagnoses with ichthyosis and other bullous diseases of childhood, as well as discussing the therapeutic possibilities.
Topics: Child, Preschool; Diagnosis, Differential; Female; Humans; Hyperkeratosis, Epidermolytic; Ichthyosis; Skin; Skin Diseases, Vesiculobullous
PubMed: 26734873
DOI: 10.1590/abd1806-4841.20153966