Anette Bygum

Odense University Hospital | OUH · Department of Dermatology and Allergy Centre - I

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, Setti...

Abstract is missing (Quiz)

Background Currently, there are no reliable biomarkers for predicting treatment response in chronic inflammatory diseases (CIDs). Objective To determine whether serum microfibrillar-associated protein 4 (MFAP4) levels can predict the treatment response to biological therapy in patients with CIDs. Methods The BELIEVE study was originally designed...

Chronic inflammatory diseases (CIDs) pose a growing healthcare challenge, with a substantial proportion of patients showing inadequate response to biological treatment. There is renewed interest in dietary changes to optimize treatment regimens, with a growing body of evidence suggesting beneficial effects with adherence to a gluten‐free diet. This...

Abstract is missing (Quiz)

The prevalence and disease burden of chronic inflammatory diseases (CIDs) are predicted to rise. Patients are commonly treated with biological agents, but the individual treatment responses vary, warranting further research into optimizing treatment strategies. This study aimed to compare the clinical treatment responses in patients with CIDs initi...

Importance Ectodermal dysplasias constitute a group of rare genetic disorders of the skin and skin appendages with hypodontia, hypotrichosis, and hypohidrosis as cardinal features. There is a lack of population-based research into the epidemiology of ectodermal dysplasias. Objective To establish a validated population-based cohort of patients with...

Aims Dermatology treatments require adherence for safe and effective use. Real‐world healthcare databases can reveal drug utilization patterns and uncover inappropriate or unexpected use. This study aimed to analyse dermatology drug utilization patterns using epidemiological and inequality measures, leveraging Danish nationwide registries. It also...

Suboptimalt behandlingsrespons og høje recidivrater er virkeligheden, når det gælder denne hyppigt forekommende lidelse. Læs og bliv bedre klædt på til at behandle neglesvamp i almen praksis.

Negleforandringer kan være kosmetisk skæmmende, men hvad værre er, så kan de også give smerter og funktionsnedsættelse hos den ramte. Denne artikel er nr. 2 i Månedsskriftets serie om neglesygdomme, der gennemgår negleforandringer, der kan være tegn på systemisk sygdom.

Her starter Månedsskriftets artikelserie om negleforandringer og -sygdomme. I den første artikel gennemgås forandringer i neglens form, farve og struktur. I de følgende numre vil der være artikler om negleforandringer ved systemiske sygdomme og om den hyppigste negle- sygdom i almen praksis - neglesvamp.

Uncombable hair syndrome is a rare hair shaft anomaly presenting in childhood with blond, frizzy, and unruly hair. This case report presents a 9-year-old boy with remarkable hair where the mother, after reading a medical paper on hair shaft anomalies, suspected uncombable hair syndrome. She reached out to the author group, and the employment of mol...

Fungal infections can be challenging to diagnose, but doctors of every specialty may encounter this issue. They can be mistaken for other common dermatoses such as eczema or psoriasis and inadvertently be treated with topical corticosteroids or calcineurin inhibitors. This may lead to tinea incognita, a term used to describe a fungal infection with...

A 1-year-old girl presented with porcelain white fingernails, accidentally discovered when she was referred for an infantile hemangioma consultation. The family reported that the nails had been milky white since birth and her father had similar white finger and toenails. The father remembered that additional family members on his side of the family...

Keratosis pilaris, or 'plucked chicken skin', is a very common condition. It is caused by keratin accumulation in the hair follicles. Although mild cases of the condition can be considered to be a normal variant, it can lead to multiple appointments with general practitioners and dermatologists. In rare cases, keratosis pilaris can form part of spe...

Uncombable hair syndrome (UHS) is a rare disorder of hair shaft morphology. UHS presents in early childhood with blonde, dry and frizzy scalp hair. The rate of hair growth may be normal or slow. The UHS hair shaft is characterized by a triangular shape with longitudinal grooves along the hair shaft axis. At writing, no curative treatment is availab...

This case report describes dry skin with marked redness of the face and hands as well as trichorrhexis invaginata.

Importance: Uncombable hair syndrome (UHS) is a rare hair shaft anomaly that manifests during infancy and is characterized by dry, frizzy, and wiry hair that cannot be combed flat. Only about 100 known cases have been reported so far. Objective: To elucidate the genetic spectrum of UHS. Design, setting, and participants: This cohort study incl...

Angioedema is a relatively rare but potentially life-threatening adverse reaction to angiotensin-converting enzyme inhibitors (ACEi) and angiotensin receptor blockers (ARBs). As with hereditary forms of angioedema (HAE), this adverse reaction is mediated by bradykinin. Research suggests that ACEi/ARB-induced angioedema has a multifactorial etiology...

Capillary malformations - arteriovenous malformation, hereditary hemorrhagic telangiectasia and Sturge-Weber syndrome - are rare diseases in which cutaneous capillary malformations (CM) may be associated with cerebral vascular malformations. The clinical presentation of each disease is described with focus on how to distinguish them in the clinic a...

Background Comèl-Netherton syndrome (NS) is a rare disease caused by pathogenic variants in the SPINK5 gene, leading to severe skin barrier impairment and proinflammatory upregulation. Given the severity of the disease, treatment of NS is challenging. Current treatment regimens are mainly topical and supportive. Although novel systemic treatment op...

The broad differential diagnosis of neonatal erythroderma often poses a diagnostic challenge. Mortality of neonatal erythroderma is high due to complications of the erythroderma itself and the occasionally severe and life‐threatening underlying disease. Early correct recognition of the underlying cause leads to better treatment and prognosis. Curre...

Hereditary Angioedema (HAE) is a rare and disabling disease for which early diagnosis and effective therapy are critical. This revision and update of the global WAO/EAACI guideline on the diagnosis and management of HAE provides up-to-date guidance for the management of HAE. For this update and revision of the guideline, an international panel of e...

Capillary malformation - Arteriovenous malformation syndrome (CM-AVM) is a rare genodermatosis with cutaneous capillary malformations (CMs) and a risk of associated fast-flow malformations. A four-generation family with a novel heterozygous pathogenic variant in the EPHB4-gene (NM_004444.5 (EPHB4): c.2224G>C, p.(Ala742Pro)) is presented. Based on a...

Background Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are presented with a compiled database of published HLRCC cases to increase understanding of HLRCC. Furthermore, a surveillance program...

Background Hereditary angioedema due to C1 inhibitor deficiency (HAE-1/2) is a chronic and debilitating disease. The unpredictable clinical course represents a significant patient burden. Objective To analyze longitudinal registry data from the Icatibant Outcome Survey (IOS) to characterize temporal changes in disease activity in patients with HAE...

Background Berotralstat (BCX7353) is an oral, once-daily inhibitor of plasma kallikrein recently approved for prevention of angioedema attacks in adults and adolescents with hereditary angioedema (HAE). The objective of this report is to summarize results from an interim analysis of an ongoing long-term safety study of berotralstat in patients with...

The impact of breast cancer-related lymphedema (BCRL) on long-term quality of life is unknown. The aim of this study was to investigate the impact of BCRL on health-related quality of life (HRQoL) up to 10 years after breast cancer treatment. This regional population-based study enrolled patients treated for breast cancer with axillary lymph node d...

Background Hereditary angioedema (HAE) is a rare, life-threatening genetic disorder characterized by recurrent episodes of subcutaneous or submucosal angioedema. The ultimate goals of treatment for HAE remain ill-defined. Objective The aim of this Delphi process was to define the goals of HAE treatment and to examine which factors should be consid...

Background: Teledermoscopy can be used to triage referrals of suspected skin cancers, thereby reducing waiting time and number of face-to-face consultations with a dermatologist. However, the success of the implementation of this technology in part relies on the acceptance of the providers. Objectives: This study assessed the attitudes towards t...

The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: TGM1, ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12, PNPLA1, CERS3, SDR9C7, and SUL...

Angioedema in the mouth or upper airways is a feared adverse reaction to angiotensin-converting enzyme inhibitor (ACEi) and angiotensin receptor blocker (ARB) treatment, which is used for hypertension, heart failure and diabetes complications. This candidate gene and genome-wide association study aimed to identify genetic variants predisposing to a...

on behalf of PREDICTION-ADR Angioedema occurring in the head and neck region is a rare and sometimes life-threatening adverse reaction to angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs). Few studies have investigated the association of common variants with this extreme reaction, but none have explored the c...

Purpose To give a better understanding of primary AE, the clinical characteristics and the possible therapeutic approaches. Background Angioedema (AE) is a non-pitting, non-itching swelling of skin or mucosa. The symptom can become life-threatening if located in the airways. Primary (monosymptomatic) AE is a manifestation of several different dise...

Angioedema occurring in the head and neck region is a rare and sometimes life‐threatening adverse reaction to angiotensin converting enzyme inhibitors (ACEI) and angiotensin receptor blockers (ARB). Only few studies have investigated the association of common variants with this extreme reaction, but none have explored the combined influence of rare...

In this review, we discuss pigmented purpuric dermatoses (PPD), which are a group of benign, chronic diseases characterised by purpuric eruption. PPD comprise mb. Schamberg, mb. Majocchi, Gougerot-Blum, lichen aureus, and Doucas and Kapetanakis eczematoid purpura. PPD can be seen in both genders and may affect all age groups. Purpura is often local...

Background Patients ≥65 years old with hereditary angioedema (HAE) due to C1-inhibitor (C1-INH) deficiency may have an altered response to treatment and be at higher risk for treatment-related adverse events (AEs) due to comorbidities and polypharmacy. Objective Investigate the safety and efficacy of subcutaneous (SC) C1-INH in patients ≥65 years...

Background: The increasing incidence of skin cancers poses a burden to health care systems. General practitioners (GPs) play an important role in triaging these diseases and referring relevant patients to specialists. It is challenging to distinguish benign from malignant skin lesions, and GPs may benefit from diagnostic support from teledermoscop...

Hereditary angioedema (HAE) is a rare genetic disorder characterised by recurrent swellings involving subcutaneous and submucosal tissue that can be potentially life threatening in cases involving the upper airway. In this case report, we present a Syrian refugee family with HAE who have lived in Denmark since 2014. The index patient is an 8-year-o...

Background: The complement and coagulation systems share evolutionary origin with many components showing structural homology. Certain components, including complement factor H (FH) and coagulation factor XII (FXII), have separately been shown to have auxiliary activities across the two systems. Objectives: The interaction between FXII and FH wa...

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Purpose: The primary objective of this study was to calculate the report rate of angiotensin-converting enzyme inhibitor-related angioedema (ACEi-AE). Secondary objectives were to determine factors suspected to affect the likelihood of ACEi-AE being reported and to investigate potential differences in angioedema risks between different ACEis. Pat...

Angiotensin-converting enzyme (ACE) converts angiotensin I to angiotensin II which causes vasoconstriction. ACE inhibitors reduce blood pressure by inhibiting ACE. A well-known adverse drug reaction to ACE inhibitors is ACE inhibitor-induced angioedema (ACEi-AE). Angioedema is a swelling of skin and mucosa, which can be fatal if the airway is compr...

Hereditary leiomyomatosis and renal cell cancer is a genodermatosis with an autosomal dominant inheritance pattern. It is a tumour predisposition syndrome characterized by cutaneous and uterine leiomyomas, and increased susceptibility to develop renal cell cancer. There are 200-300 families with hereditary leiomyomatosis and renal cell cancer repor...

Angioedema (AE) is caused by a wide range of diseases and pharmaceuticals; it can become life-threatening when located to the airways. Patients with deficiency or malfunction of complement C1 esterase inhibitor (hereditary or acquired) experience recurrent AE due to an accumulation of the vasoactive mediator bradykinin (BK). Complement C1 inhibitor...

Acquired angioedema due to C1‐inhibitor (C1INH) deficiency (AAE) is caused by secondary C1INH deficiency leading to bradykinin‐mediated angioedema episodes. AAE typically presents in adulthood and is associated to B cell lymphoproliferation. Anti‐C1INH autoantibodies (antiC1INHAbs) are detectable in a subset of AAE cases and considered a hallmark o...

Background Hereditary angioedema with C1 inhibitor deficiency (C1‐INH‐HAE) is characterized by recurrent swelling in subcutaneous or submucosal tissues. Symptoms often begin by age 5–11 years and worsen during puberty, but attacks can occur at any age and recur throughout life. Disease course in elderly patients is rarely reported. Methods The Ica...

Som led i en ny serie af cases med sjældne eller vanskelige lidelser præsenteres her to cases med spontan pneumothorax, hud- og nyretumorer. Læs cases og se, om du kan gætte, hvilket syndrom der er tale om. Efter cases præsenteres syndromet, og hvornår man skal mistænke dette.

Hereditary angioedema (HAE) is a relapsing swelling disorder which can cause severe pain, affect quality of life and potentially be life threatening with involvement of the airways. We present a 34-year-old immigrant who suffered from very frequent and severe HAE attacks. The attacks often involved the face, mouth and the airways. She often went to...

Hereditary angioedema (HAE) is an autosomal dominant disease caused by C1-INH deficiency due to mutations in SERPING1 (C1-INH-HAE) in most of the cases, or by specific mutations in factor XII gene, F12 (F12-HAE). Identification of polymorphisms in the genes encoding proteins from key pathways driving HAE can help to understand how genetic diversity...

Genetic variants found by NGS in HAE families. All the 211 variants found in the 15 genes analyzed in the 78 subjects are listed in the table. Pathogenicity prediction from SIFT (D, damaging; T, tolerated), PolyPhen-2 (B, benign; P, possibly damaging; D, damaging), PROVEAN (D, damaging; N, non-damaging) and CADD (threshold > 20) indicate the in sil...

Full dataset of genetic variants and clinical data. The sheet entitled Genetic Variants contains all the variants found by NGS before validation and patients filtering (raw data). Variants with the annotation ARTIFACT in the column Functional Class correspond to the variations not confirmed by Sanger sequencing validation and discarded in the final...

Background: Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed alongside extracutaneous abnormalities typically involving the central nervous system and the musculoskeletal system. We have com...

Abstract The objective of this analysis was to evaluate the change over time in age at first symptoms, age at diagnosis, and delay in diagnosis using data from the Icatibant Outcome Survey (IOS). Patients with a diagnosis of C1-INH-HAE who were born before the year 1990 and who were diagnosed before they reached 25 years of age were included in the...

Background It has long been suggested that angiotensin‐converting enzyme inhibitors (ACEi) and angiotensin II receptor blockers (AT2s) have some degree of ‘cross‐reactivity’ in causing angioedema. Therefore, caution has been advised when switching patients with ACEi–related angioedema to an AT2. Objectives To clarify whether AT2s can be used safel...

Hereditary angioedema (HAE) is an autosomal dominant disease characterized by recurrent edema attacks associated with morbidity and mortality. HAE results from variations in the SERPING1 gene encoding C1 inhibitor (C1INH), a serine protease inhibitor (serpin). Reduced plasma levels of C1INH lead to enhanced activation of the contact system triggeri...

Hereditary angioedema (HAE), due to C1-inhibitor deficiency, is a rare autosomal dominant and potentially life-threatening disease characterised by recurrent oedema attacks of skin, mucosa and viscera. Due to the rarity and the fact that symptoms of HAE imitate other forms of angioedema and other conditions, HAE may be misdiagnosed, especially in e...

Background Hereditary angioedema is a life-threatening illness caused by mutations in the gene encoding C1 inhibitor (also called C1 esterase inhibitor) that lead to overactivation of the kallikrein–bradykinin cascade. BCX7353 is a potent oral small-molecule inhibitor of plasma kallikrein with a pharmacokinetic and pharmacodynamic profile that may...

Sweet syndrome (SS) exists as classical, malignancy-associated, drug-induced and as the new variants: giant cellulitis-like SS and neutrophilic dermatosis of the hands. SS exhibits different morphologies. Skin manifestations are usually accompanied by fever and neutrocytosis. All variants respond to systemic corticosteroids, but SS can recur. SS ma...

The prevalence of diabetes mellitus is increased in patients with porphyria cutanea tarda. Different tests are available for diagnosing and screening for type II diabetes mellitus, however choosing the most suitable test is challenging. The pitfalls in the different tests along with the interfering comorbidities and treatments concerning patients w...