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Anette Bygum

Publications and source records attributed to Anette Bygum.

16 recordsLinked to original sources
PubMed2025

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

IMPORTANCE: Palmoplantar keratoderma poses diagnostic challenges due to its clinical and genetic heterogeneity, and knowledge on the value of systematic genetic testing on clinically well-described patient cohorts is sparse. OBJECTIVE: To improve knowledge of the clinical and genetic spectrum of patients with palmoplantar keratoderma. DESIGN, SETTING, AND PARTICIPANTS: This cohort study prospectively recruited patients and affected family members with palmoplantar keratoderma between September 1, 2016, and December 31, 2022. Patients were recruited from private practitioners in dermatology and dermatology departments in Denmark. Study participants were patients 18 years or older either newly diagnosed with palmoplantar keratoderma or being followed up for the disease at referral centers. MAIN OUTCOMES AND MEASURES: Phenotypes and clinical subtypes were classified. Genetic testing was performed by whole-exome or genome sequencing using an in silico panel containing genes related to palmoplantar keratoderma, or by Sanger sequencing for specific variants. Descriptive analysis, such as proportions and frequency, were used to describe clinical characteristics, distribution of disease-causing variants, and genotype-phenotype associations. RESULTS: This study included 142 study participants from 76 families (90 [63%] female; median [range] age, 52 [18-92] years). Clinical subtypes included 42 punctate (55%), 26 diffuse (34%), 5 focal (7%), and 3 striate (4%). A genetic diagnosis was found in 63 of 76 families (83%), including 27 disease-causing variants within 13 different genes: AAGAB (n = 39), DSG1 (n = 8), KRT1 (n = 3), DSP (n = 2), KRT9 (n = 2), AQP5 (n = 2), KRT16 (n = 1), SERPINA12 (n = 1), ABCA12 (n = 1), COL7A1 (n = 1), CARD14 (n = 1), DST (n = 1), and LORICRIN (n = 1). All participants with AAGAB variants presented with punctate palmoplantar keratoderma, showing a clear genotype-phenotype correlation. The other subtypes (diffuse, focal, and striate) proved more challenging to clinically subclassify, and disease-causing variants were identified in 12 genes, contributing to more complex genotype-phenotype patterns. Patients with palmoplantar keratoderma due to DSP variants were found, which is important to identify because of an associated risk of cardiomyopathy. CONCLUSION AND RELEVANCE: This study provides novel insights into the clinical and genetic spectrum of patients with palmoplantar keratoderma. It demonstrates the value of genetic testing for accurate diagnoses and to distinguish between different subtypes. The established and well-described cohort lays the foundation for future research in palmoplantar keratoderma.

Humans↗
PubMed2006

[Cutaneous lupus erythematosus induced by terbinafine].

Cutaneous lupus erythematosus can be induced or precipitated by a variety of drugs. Among the cutaneous variants of lupus, subacute cutaneous lupus erythematosus is the one most often associated with drug intake. The time lag between drug intake and skin eruption makes the clinical association less obvious, and the condition is often overlooked. We report on a 50-year-old woman with previously diagnosed systemic lupus erythematosus who had a severe cutaneous flare-up seven weeks after starting treatment with terbinafine for suspected onychomycosis.

Antifungal Agents↗
PubMed2006

[Toxic epidermal necrolysis].

Toxic epidermal necrolysis (TEN) is a rare, mostly drug-induced life-threatening mucocutaneous reaction with generalised symptoms and internal organ involvement. Current treatment strategy focuses on supportive intensive care with close collaboration among many specialties. Specific therapies for TEN have not yet reached evidence-based levels of acceptance. The clinical syndrome, diagnostic criteria, pathogenesis and possible disease-limiting drug therapy are discussed.

Critical Care↗
PubMed2005

[Activation of psoriasis in patients undergoing treatment with interferon-beta].

Psoriasis is a chronic, inflammatory skin disorder that is induced and aggravated by a number of endogenous and exogenous factors. Traditionally lithium, beta blockers, NSAIDs, ACE inhibitors and antimalarials have been associated with psoriasis, but interferon can also be a triggering factor. We present two patients with multiple sclerosis who suffered from activation of psoriasis in relation to interferon-beta treatment. In one of the patients, psoriasiform injection site lesions persisted six years after termination of the interferon treatment.

Adjuvants, Immunologic↗
PubMed2005

KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation.

Keratitis-ichthyosis-deafness syndrome is a rare genodermatosis, which has recently been connected with mutations in the connexin-26 gene, GJB2. We present a 15-year-old boy with erythroderma, hyperkeratotic plaques and deafness. Sequencing analysis showed a heterozygous missense mutation D50N (148G>A) in GJB2. The boy has not yet manifested characteristic eye lesions but his case shows that tardy development of eye signs should not preclude a clinical diagnosis of keratitis-ichthyosis-deafness syndrome. Besides the typical clinical features, the patient's height was above the 98th percentile and he displayed a delayed bone age in his hands. Additionally, he suffered from migrainoid headaches and the results of a magnetic resonance scan of the cerebrum showed he had a large cisterna magna which probably occurred independently from the syndrome. This patient is the first Danish patient in whom the keratitis-ichthyosis-deafness syndrome has been verified by mutation analysis.

Adolescent↗
PubMed2003

Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin.

We have identified nonsense mutations in the gene CDSN (encoding corneodesmosin) in three families suffering from hypotrichosis simplex of the scalp (HSS; OMIM 146520). CDSN, a glycoprotein expressed in the epidermis and inner root sheath (IRS) of hair follicles, is a keratinocyte adhesion molecule. Truncated CDSN aggregates were detected in the superficial dermis and at the periphery of hair follicles. Our findings suggest that CDSN is important in normal scalp hair physiology.

Base Sequence↗
PubMed2003

Atopy patch tests in young adult patients with atopic dermatitis and controls: dose-response relationship, objective reading, reproducibility and clinical interpretation.

The clinical interpretation and reproducibility of atopy patch tests was studied in 23 selected young adult patients with atopic dermatitis and 25 healthy controls using standard inhalant allergens. Non-invasive measurements were used for objective assessment of test reactions and the participants were retested after 6 weeks. Ten of 19 (53%) evaluable patients with atopic dermatitis had at least one positive atopy patch test. However, there was no clear clinical relevance of the atopy patch test results when related to patient history and distribution of dermatitis. Reproducible and dose-dependent results were obtained with Dermatophagoides pteronyssinus, grass and cat with a reproducibility rate of 0.69 to 0.81 in patients and 0.60-0.96 in controls. A unique finding was a significant positive correlation between a positive atopy patch test, allergen dose and increase in transepidermal water loss and erythema, while measurement of capacitance did not distinguish between positive and negative reactions. The results of the present study do not support the routine use of atopy patch tests in the evaluation of adult patients with atopic dermatitis.

Adolescent↗
PubMed2003

Familial and sporadic porphyria cutanea tarda: clinical, biochemical and genetic features with emphasis on iron status.

The manifestation of porphyria cutanea tarda reflects genetic and environmental factors. Mutations in the uroporphyrinogen decarboxylase gene, located at chromosome 1p34, discriminate familial porphyria cutanea tarda from sporadic cases. Furthermore, mutations in the haemochromatosis gene may be involved in the aetiology. In this study 53 unrelated Danish patients with porphyria cutanea tarda were classified according to uroporphyrinogen decarboxylase and haemochromatosis gene mutations and the genotype related to the clinical and biochemical data. Thirteen patients (25%) had familial porphyria cutanea tarda. The results signify the advantage of DNA diagnostics for identification of familial cases, as anamnestic data are doubtful and erythrocyte uroporphyrinogen decarboxylase activity measurements insufficient for correct classification. Eight patients with porphyria cutanea tarda (15%) were homozygous for the haemochromatosis gene C282Y mutation and 8 patients were heterozygous. Patients homozygous for the haemochromatosis related mutation showed biochemical evidence of excessive iron storage as well as increased urine porphyrin excretion levels. This seems to confirm a relationship between porphyria cutanea tarda and haemochromatosis. No differences were found between patients with sporadic and familial porphyria cutanea tarda regarding age of onset, clinical severity, sex distribution, liver function tests and iron storage parameters. However, daily alcohol intake and use of oestrogens were reported more frequently in the group of sporadic patients. It was found that women were over-represented in our study.

Adult↗
PubMed2002

IgA pemphigus: the first two Scandinavian cases.

IgA pemphigus is a rare neutrophilic acantholytic skin disorder with only approximately 70 cases reported in the indexed literature to date. Here we describe two patients with IgA pemphigus (subcorneal pustular dermatosis type and intraepithelial neutrophilic type) that to our knowledge are the first Scandinavian patients with this disease. Initially, both patients were misdiagnosed as subcorneal pustular dermatosis of Sneddon and Wilkinson and only subsequent careful immunofluorescence studies (in one case with confocal laser scanning microscopy) led to the correct diagnosis. Apart from the expected IgA depositions on epidermal cell surfaces, both patients demonstrated some degree of intercellular IgG-specific immunofluorescence. No circulating IgA autoantibodies were detected. One patient was treated with the standard regime comprising dapsone and prednisolone, whereas in the other case a novel methotrexate and prednisolone combination treatment showed marked clinical efficacy.

Aged↗
PubMedDate not supplied

Acetaminophen-induced toxic epidermal necrolysis in a child.

Toxic epidermal necrolysis (TEN) is a severe, life-threatening disorder that usually affects adults. It is often drug induced. We report an instance of a severe case of TEN in a 6-year-old boy, probably induced by acetaminophen, and less likely by codeine. A lymphocyte stimulation test could not identify the culprit drug. Treatment with intravenous immunoglobulin seemed to halt the disease progression.

Acetaminophen↗