Summary
Background Hereditary angio‐oedema (HAE) is a rare disease caused by deficiency of complement C1 inhibitor (C1 inhibitor). The diagnosis is challenging as the disease can have a variety of ...clinical manifestations. In 2001 a national HAE comprehensive care centre was established and a search for these patients was initiated.
Objectives To identify and characterize all patients with HAE in Denmark and increase awareness of the disease.
Methods Patients were recruited from hospital departments, dermatologists in private practice, Centres for Rare Diseases, the Danish patient organization and the national reference laboratory. Family interviews were conducted and medical records were evaluated. Information was spread through lectures, articles in popular magazines and via television. National guidelines for diagnosis and treatment were published.
Results Eighty‐two patients were identified. The mean diagnostic delay was 16·3 years. Five patients had HAE type II. Forty‐five patients reported a characteristic serpiginous rash (erythema marginatum). More than 90% of patients had noticed precipitating factors before skin and mucosal swellings. Four patients underwent a total of eight tracheotomies and five families recalled 11 relatives who died of HAE.
Conclusions The minimal prevalence of HAE in Denmark is ∼ 1·41 per 100 000 inhabitants. The risk of upper airway obstruction underlines the importance of diagnosing these patients. Precipitating factors, a preceding or concomitant serpiginous erythema and cutaneous swelling and/or abdominal pain attack and/or laryngeal oedema are clues to the diagnosis. As a consequence of this survey, information has been spread to patients, families and physicians.
Objectives
The objectives of this paper are to describe the epidemiology of cutaneous lupus erythematosus (CLE) and its subtypes in Denmark, and to investigate the probability of receiving a ...subsequent diagnosis of systemic lupus erythematosus (SLE) and the related time course.
Methods
A nationwide registry-based cohort study was conducted in Denmark based on data from the Danish National Patient Registry from 1998 to 2013 using International Classification of Diseases, Revision 10.
Results
We identified 2380 patients with CLE. The annual incidence rate (IR) of CLE was 2.74/100,000 with a female:male ratio of 4:1. During 12,047 person-years of follow-up, 8% were diagnosed with SLE. The probability of receiving a subsequent diagnosis of SLE was 12.9% after 10 years taking death as a competing risk into consideration, and the probability was highest among women and patients diagnosed with subacute CLE. The median time until a diagnosis of SLE was 2.05 years.
Conclusions
This is the first nationwide study on CLE in Denmark. Although we found the annual IR of CLE and the risk of receiving an additional diagnosis of SLE to be lower than previously described, continued monitoring and thorough information for patients with CLE is important due to the inherent risk of SLE.
Linear IgA bullous dermatosis (LAD) is an autoimmune, chronic bullous disease affecting primarily young children and adults. Studies on LAD are relatively sparse and from Scandinavia we could only ...find a few case reports. Therefore we decided to conduct a retrospective investigation of patients seen at our department since 1972. A total of 23 patients were identified; 7 children (F:M ratio 0.75) and 16 adults (F:M ratio 0.78). Mean age at disease onset in the two age groups were 2.7 and 56.8 years. Estimated incidence rate in our region: 0.67 per million per year. The most commonly used treatment modalities were corticosteroids, dapsone and sulphapyridine.
An association between punctate palmoplantar keratoderma type 1 (PPPK1) and malignancy has been proposed for decades. Some authors suggest that individuals with PPPK1 should undergo screening for ...various types of malignancies while others caution that an association is not well-established. In this systematic review, we summarized and evaluated the current evidence for a possible association between PPPK1 and malignancy. The review was conducted along PRISMA guidelines. The search used Embase, MEDLINE, Scopus, and the Human Gene Mutation Database up to March 2022. All studies reporting on individuals with the diagnosis of PPPK1 with or without history of malignancy were included. Two authors screened for eligible studies, extracted predefined data, and performed a quality assessment. Of 773 studies identified, 45 were included. Most studies were reports on single families (24 of 45 studies) or multiple families (10 of 45 studies). The number of index cases with PPPK1 across all included studies was 280, and when family members reported with PPPK1 were added, a total of 817 individuals were identified. Overall, 23 studies reported on individuals with PPPK1 with a history of malignancy, whereas 22 studies reported on individuals with PPPK1 without a history of malignancy. Although the extracted data were not considered to be of sufficient quality to synthesize and answer our research question, the review did not confirm an association between PPPK1 and malignancy. This review shows that there is a lack of well-designed studies on this topic to conclude whether individuals with PPPK1 have an increased risk of malignancy. Based on the present literature, however, we could not confirm an association between PPPK1 and malignancy and find it highly questionable if patients with PPPK1 should be offered surveillance for malignancies.
Since 2008, outbreaks of atypical hand, foot, and mouth disease (HFMD) in children and adults have been reported worldwide. The majority of these outbreaks are caused by a new lineage of Coxsackie ...virus A6 (CV-A6) presenting a more severe clinical phenotype than the classical childhood HFMD caused by CV-A16. Between June 2014 and January 2016, 23 cases of atypical HFMD disease presented at a Dermatology Department at a regional University Hospital in Denmark. Patients were referred by general practitioners and dermatologists with a variety of clinical diagnoses, including eczema herpeticum, vasculitis, syphilis, dermatophytid, erythema multiforme and Stevens-Johnson syndrome. Three adults and 3 children required hospitalization due to extensive skin involvement and fever. All reported patients had laboratory-confirmed enterovirus infection. This study demonstrated an upsurge in atypical HFMD caused by CV-A6 in the Region of Southern Denmark and that atypical HFMD can be difficult to diagnose clinically as it may mimic other severe skin diseases.
Background
Skin cancer incidences are increasing and early diagnosis, especially of malignant melanoma, is crucial. Teledermatology including teledermoscopy (TDS) can be used to triage referrals of ...suspicious skin lesions, however, this is not currently recommended in Denmark.
Objectives
To evaluate diagnostic accuracy, sensitivity, specificity and interobserver concordance of TDS, and to evaluate the number of incidental lesions potentially missed by TDS.
Methods
Fifty general practices were invited to send images of suspicious skin lesions for evaluation using smartphone TDS. Simultaneously, the patient was referred for a face‐to‐face (FTF) consultation. Images for TDS were independently evaluated by two dermatologists; a third dermatologist performed the FTF consultation. Diagnosis, management plan and level of diagnostic confidence were noted. For TDS photo quality was rated, and for FTF any incidental findings were described.
Results
Six hundred lesions in 519 patients were included. The diagnostic accuracy was significantly higher on FTF evaluation than on TDS (P < 0.01). However, this was associated with a significant difference in specificity (P ≤ 0.012) whereas no significant difference was found in sensitivity. The concordance between FTF and TDS, and the interobserver concordance of two TDS evaluations was moderate to substantial (AC1 = 0.57–0.71). Incidental melanomas were found in 0.6% of patients on FTF evaluation, adding an extra 13% of melanomas. However, on TDS these patients’ photographed lesions all warranted FTF follow‐up, where these melanomas would have been identified.
Conclusion
In this large prospective study, no significant difference in sensitivity was observed between FTF and TDS, but specificity was lower on TDS than FTF. Taking management plans into account, we would, however, potentially have dismissed 2 of 23 melanomas, if only TDS had been used for assessment. One of these was a melanoma located on the scalp, an anatomic region less suitable for TDS.
Angioedema and hereditary angioedema are characterized by swelling of the subcutaneous and/or submucosal tissue, resulting in localized oedema. The rarity, but also the diverse clinical presentation, ...of these conditions can be challenging regarding diagnosis, treatment, and management. Patient-reported outcome measures (PROMs) are data received directly from the patient, providing the patient's perspective on various subjects regarding health and well-being. PROMs can be helpful tools to optimize treatment and long-term management of conditions. A major challenge regarding the consistent use of PROMs in clinical settings in Scandinavia is language availability; many of the validated PROMs for hereditary angioedema and angioedema lack translations into the Nordic languages. The litterature search yielded 9 different PROM tools for angioedema and hereditary angioedema. Five were found suitable for use in clinical practice in Europe. Even though several PROMs exist they are not used consistent. Accessible electronic PROMs and careful planning is required to implement PROMs optimally in routine care processes.
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and ...congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38). At birth, a collodion membrane or similar severe hyperkeratosis was reported in almost all patients with HI and LI, and in nearly half of patients with CIE and PI. Persistent ectropion was more common in HI (85%) and LI (57%), than in CIE (35%) and PI (5%). Anhidrosis was a frequent problem in all 4 groups (58-100%). A scoring (0-4) of ichthyosis/ery-thema past infancy showed widely different mean values in the subgroups: HI (3.2/3.1), LI (2.4/0.6), CIE (1.8/1.6), PI (1.1/0.3). Novel or recurrent mutations were found in 113 patients: TGM1 (n = 56), NIPAL4 (n = 15), ALOX12B (n = 15), ABCA12 (n = 8), ALOXE3 (n = 9), SLC27A4 (n = 5), CYP4F22 (n = 3), PNPLA1 (n = 1) and ABHD5 (n = 1). In conclusion, by performing a deep phenotyping and gene screening, ARCI can be definitely diagnosed in 85% of cases in Scandinavia, with a prevalence of 1:100,000 and > 8 different aetiologies.
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