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Der Internist Aug 2020Skin diseases represent the second most common paraneoplastic manifestations after endocrine disorders. Paraneoplastic dermatoses may arise as the first clinical sign of... (Review)
Review
Skin diseases represent the second most common paraneoplastic manifestations after endocrine disorders. Paraneoplastic dermatoses may arise as the first clinical sign of occult malignancies, or manifest during the course of a previously diagnosed neoplasm. Dermatoses belonging to the group of obligate paraneoplastic syndromes manifest only in the presence of underlying malignancies. Other skin diseases may be associated with malignancy in a subset of patients.
Topics: Acanthosis Nigricans; Carcinoma, Basal Cell; Dermatomyositis; Humans; Hypotrichosis; Ichthyosis; Paraneoplastic Syndromes; Skin Diseases; Skin Neoplasms
PubMed: 32643112
DOI: 10.1007/s00108-020-00831-y -
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 -
Veterinary Dermatology Dec 2021The stratum corneum (SC), the outermost layer of the epidermis, serves a crucial role in maintaining body hydration and protection from environmental insults. When the... (Review)
Review
The stratum corneum (SC), the outermost layer of the epidermis, serves a crucial role in maintaining body hydration and protection from environmental insults. When the stratum corneum is injured or when the genetic blueprints are flawed, the body is at risk of dehydration, secondary infections and allergen sensitization. Advancements in veterinary dermatology have revealed a wide gamut of disease from relatively benign to lethal that specifically arise from flawed structural proteins, enzymes or lipids needed to create the corneocytes and lipid bilayers of the SC. Some conditions closely mimic their human counterparts while others are unique to the dog. This review will focus on forms of ichthyosis in the dog.
Topics: Animals; Cell Differentiation; Dog Diseases; Dogs; Epidermal Cells; Epidermis; Ichthyosis; Skin
PubMed: 34796560
DOI: 10.1111/vde.13033 -
Fetal and Pediatric Pathology 2024Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis. (Review)
Review
INTRODUCTION
Congenital ichthyosis represents a wide spectrum of diseases. This article reviews prenatal testing for ichthyosis.
METHODS
We used pubmed.ncbi.nlm.nih.gov to search for 38 types of congenital ichthyosis combined with 17 words related to prenatal testing.
RESULTS
Search resulted in 408 publications covering 13 types of ichthyoses and four types of tests.
DISCUSSION
Biochemical testing is diagnostic in trichothiodystrophy, but nonspecific in X-linked ichthyosis and Refsum syndrome. Except in X-linked ichthyosis, biochemical testing requires invasive procedures to obtain fetal skin biopsy, amniocytes, or chorionic villus samples. It is superior to histological and cytological examination of fetal skin biopsy or amniocytes because keratinization occurs later in pregnancy and microscopy cannot differentiate between ichthyosis types. Imaging is more acceptable due to noninvasiveness and routine use, although ultrasonography is operator-dependent, nonspecific, and captures abnormalities at late stage. Molecular tests are described in at-risk pregnancies but testing of free fetal DNA was not described.
Topics: Pregnancy; Female; Humans; Prenatal Diagnosis; Chorionic Villi Sampling; Ichthyosis; Skin; Biopsy
PubMed: 38204144
DOI: 10.1080/15513815.2023.2301468 -
Journal Der Deutschen Dermatologischen... Mar 2021Inherited ichthyoses are a group of genodermatoses classified as either nonsyndromic or syndromic. Nonsyndromic ichthyoses and keratitis, ichthyosis and deafness (KID)... (Review)
Review
Inherited ichthyoses are a group of genodermatoses classified as either nonsyndromic or syndromic. Nonsyndromic ichthyoses and keratitis, ichthyosis and deafness (KID) syndrome predispose to fungal infection. The diagnosis and treatment of fungal infections underlying ichthyoses are challenging. In this review, we summarize reported cases of ichthyosis with fungal infection over the past 50 years. Atypical manifestations such as alopecia, papules and brittle nails occurred in patients with ichthyosis combined with fungal infection. Various pathogenic mechanisms have been implicated, including mutations of ichthyosis-related genes leading to disruption of the skin barrier via multiple pathways. Host immune disorders, including atopy and abnormal innate immunity also contribute to susceptibility. Specific fungi may escape the immune response. Extensive and recurrent fungal infections are not uncommon in patients with ichthyosis, making a cure more difficult and increasing the need for systemic antifungal therapy. Traditional and new ichthyosis treatments aiming to improve skin barrier function could help prevent fungal infection. In conclusion, the close relationship between ichthyosis and fungal infection is of vital importance in clinical practice and requires more attention from physicians. More studies are required to investigate the mechanisms and explore useful treatment strategies.
Topics: Humans; Ichthyosis; Ichthyosis, Lamellar; Keratitis; Mutation; Mycoses
PubMed: 33448147
DOI: 10.1111/ddg.14389 -
Annales de Dermatologie Et de... Oct 2019
Topics: Female; Humans; Ichthyosis; Imidazoles; Middle Aged; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Protein Kinase Inhibitors; Pyridazines
PubMed: 31540674
DOI: 10.1016/j.annder.2019.08.002 -
Dermatology Online Journal Feb 2021Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified...
Epidermolytic ichthyosis (EI, OMIM 113800) is a rare autosomal dominant keratinization disorder that is caused by keratin 1 or 10 gene mutation. It can be classified clinically based on the presence of palmoplantar hyperkeratosis involvement and extent of skin involvement. The diagnosis is made by clinical and histopathological examinations that can be confirmed by genetic testing. We present a 2-year-old girl who presented with erythematous and thick scaling skin. Her condition began at birth as multiple flaccid blisters that would easily break into erosions. There was no history of similar condition nor consanguinity within her family. Skin examination revealed diffuse erythematous skin covered with thick scales and erosion, predominantly on her face, extremities, palms, and soles. The skin histopathology examination showed diffuse parakeratosis with vacuolar and granular degeneration within granular and spinous layers along the epidermis. She was diagnosed with generalized EI with palmoplantar hyperkeratosis based on the clinical and histopathological examinations. Clinical improvement was observed after a one-month treatment with mupirocin cream, sodium bicarbonate bath, and moisturizer after bathing.
Topics: Child, Preschool; Female; Humans; Hyperkeratosis, Epidermolytic; Keratoderma, Palmoplantar
PubMed: 33818988
DOI: No ID Found -
Indian Journal of Pathology &... 2022Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal...
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. The importance of antenatal diagnosis by ultrasonography, DNA-based molecular studies on chorionic villus sampling, and amniocentesis has been emphasized. We report a new case of HI in an infant, diagnosed postnatally by correlation of clinical and histopathological features on skin biopsy. The infant succumbed on the second day of birth despite intensive supportive care. A short review of the literature regarding the condition is also presented.
Topics: Biopsy; Female; Humans; Ichthyosis, Lamellar; Infant; Pregnancy; Prenatal Diagnosis; Skin
PubMed: 35435396
DOI: 10.4103/IJPM.IJPM_1150_20 -
JAMA Dermatology Jul 2023Grover disease (GD), a truncal eruption that typically occurs in older individuals, is exacerbated by sweating, irradiation, cancers, medications, kidney failure, and...
IMPORTANCE
Grover disease (GD), a truncal eruption that typically occurs in older individuals, is exacerbated by sweating, irradiation, cancers, medications, kidney failure, and organ transplantation. The pathobiology of GD remains unknown.
OBJECTIVE
To determine if damaging somatic single-nucleotide variants (SNVs) are associated with GD.
DESIGN, SETTING, AND PARTICIPANTS
In this retrospective case series, we identified consecutive patients from a dermatopathology archive over a 4-year period (January 2007 to December 2011) who had 1 biopsy with a clinical diagnosis of GD confirmed via histopathologic findings and another non-GD biopsy. Participant DNA was extracted from both biopsy tissues and sequenced to high depth with a 51-gene panel to screen for SNVs in genes previously associated with acantholysis and Mendelian disorders of cornification. Analysis took place between 2021 and 2023.
MAIN OUTCOMES AND MEASURES
Comparative analysis of sequencing data from paired GD and control tissue was employed to identify SNVs predicted to affect gene function, which were exclusive to, or highly enriched in, GD tissue.
RESULTS
Overall, 12 of 15 cases of GD (12 men and 3 women; mean [SD] age, 68.3 [10.0] years) were associated with C>T or G>A ATP2A2 SNVs in GD tissue; all were predicted to be highly damaging via combined annotation dependent depletion (CADD) scores, and 4 were previously associated with Darier disease. In 9 cases (75%), the GD-associated ATP2A2 SNV was absent from control tissue DNA, and in 3 cases (25%), ATP2A2 SNVs were enriched 4- to 22-fold in GD vs control tissue.
CONCLUSIONS AND RELEVANCE
In this case series study of 15 patients, damaging somatic ATP2A2 SNVs were associated with GD. This discovery expands the spectrum of acantholytic disorders associated with ATP2A2 SNVs and highlights the role of somatic variation in acquired disorders.
Topics: Aged; Female; Humans; Male; Acantholysis; Darier Disease; Ichthyosis; Retrospective Studies; Sarcoplasmic Reticulum Calcium-Transporting ATPases
PubMed: 37195706
DOI: 10.1001/jamadermatol.2023.1139