Publications by authors named "Mette Sommerlund"

62 Publications

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

Fam Cancer 2021 Oct 12. Epub 2021 Oct 12.

Department of Clinical Genetics, Aalborg University Hospital, Ladegaardsgade 5,5, 9000, Aalborg, Denmark.

We present a three-generation family with an AXIN2 variant and a family history of colorectal cancer (CRC), colon polyps and tooth agenesis. A likely pathogenic variant was detected in the AXIN2 gene (c.1994dup; p.(Asn666Glnfs*41)). This variant has previously been associated with tooth agenesis and polyposis, only. In this case report we describe eight carriers with tooth agenesis and variable clinical findings, including polyps and CRC. Our case provides additional knowledge to the sparse data on genotype-phenotype association related to AXIN2 associated cancer syndrome. Further, our case highlights the importance of analysing an extended CRC and oligodontia/ectodermal dysplasia gene panel including AXIN2 but also raises awareness and discussion about appropriate surveillance program.
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http://dx.doi.org/10.1007/s10689-021-00280-yDOI Listing
October 2021

[Incontinentia pigmenti in a newborn boy].

Ugeskr Laeger 2021 06;183(25)

Incontinentia pigmenti is an uncommon X-linked dominant neurocutaneous ectodermal dysplasia. The disorder is usually lethal in males in utero, although it may occasionally occur in males with somatic mosaicsism or Klinefelter syndrome. This is a case report of a rare case of incontinentia pigmenti in a newborn male who presented with characteristic skin eruptions following Blaschko's lines. Histopathology and genetic testing confirmed the diagnosis. The management of patients with incontinentia pigmenti may require a multidisciplinary approach, and early diagnosis is of great importance.
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June 2021

[Aquagenic wrinkling of the palms is a rare dermatological disease associated with cystic fibrosis].

Ugeskr Laeger 2021 05;183(19)

Aquagenic wrinkling of the palms was first described in 1974. This review summarises the present knowledge. Aquagenic wrinkling of the palms is most often associated with cystic fibrosis, but several other associated conditions are described. Patients report of pruritus, pain and discomfort in the palms after contact with water, and excessive wrinkling is visible. The prognosis is good, and symptoms often decrease in adulthood. A positive water exposure test will support the diagnosis, and the patient should be referred for dermatological investigation and genetic test for cystic fibrosis should be offered.
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May 2021

Occupational allergic contact dermatitis to 4,4-methylenebis(cyclohexylisocyanate).

Contact Dermatitis 2021 Oct 27;85(4):469-470. Epub 2021 May 27.

Occupational Medicine, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1111/cod.13884DOI Listing
October 2021

Idiopathic hypereosinophilic syndrome: A rare diagnosis in children.

Clin Case Rep 2020 Oct 14;8(10):2013-2016. Epub 2020 Sep 14.

Department of Dermatology Aarhus University Hospital Aarhus N Denmark.

Idiopathic hypereosinophilic syndrome (IHES) is one of numerous hypereosinophilic syndromes. The incidence of IHES among children is unknown, but it is considered a rare disease. We report a pediatric case of IHES and the challenges to finding an effective treatment. The patient described here was responsive to prednisolone and thalidomide.
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http://dx.doi.org/10.1002/ccr3.3165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563636PMC
October 2020

Validity of First-Time Diagnoses of Inherited Ichthyosis in the Danish National Patient Registry and the Danish Pathology Registry.

Clin Epidemiol 2020 19;12:651-657. Epub 2020 Jun 19.

Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.

Purpose: Inherited ichthyosis is a monogenetic disease characterized by hyperkeratosis and scaling of the skin, with large interindividual variation in severity. It can affect quality of life for patients and their families. Population-based data on inherited ichthyosis are lacking, which hampers studies into its epidemiology.

Patients And Methods: Based on medical record review, we validated diagnoses of inherited ichthyosis in two nationwide population-based registries commonly used for epidemiological research: The Danish National Patient Registry and the Danish Pathology Registry. The study period was January 1, 1977, through December 31, 2015. Validation samples were taken from one regional hospital without a specialized dermatological department and two specialized dermatological departments. Positive predictive values (PPVs) were estimated overall and for each coding system (ICD-8, ICD-10 and SNOMED), including for specific ICD-10 codes.

Results: We identified 1772 first-time diagnoses of inherited ichthyosis; 363 patients were diagnosed at the departments selected for validation, and 307 of these patients (84.6%) had medical records enabling validation. We observed an overall PPV of 73.3% (95% CI: 68.1-77.9). For ICD-8, ICD-10, and SNOMED diagnoses, the PPVs were 73.2% (95% CI: 58.1-84.3), 74.7% (95% CI: 69.0-79.7), and 46.2% (95% CI: 22.1-71.7), respectively. In analyses for ICD-10 diagnoses, we observed much higher validity of diagnoses from the specialized departments (PPV 79.7%; 95% CI: 74.1-84.3) than the regional hospital (PPV 5.9%; 95% CI: 0.6-24.3). The PPVs for specific diagnoses were 80.1% for ichthyosis vulgaris and 96.6% for X-linked ichthyosis but below 45% for remaining, rarer, subtypes.

Conclusion: The PPV of first-time diagnosis of inherited ichthyosis made at specialized dermatological departments in the Danish National Patient Registry is approximately 80%. Diagnoses from the Danish Pathology Registry had low PPVs precluding their use for research.
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http://dx.doi.org/10.2147/CLEP.S232956DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7310968PMC
June 2020

Pustular allergic contact dermatitis caused by a sunscreen.

Contact Dermatitis 2020 Oct 8;83(4):328-329. Epub 2020 Jul 8.

Department of Dermato-venereology, Aarhus University Hospital, Aarhus, Denmark.

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http://dx.doi.org/10.1111/cod.13621DOI Listing
October 2020

[Ichthyosis vulgaris].

Ugeskr Laeger 2020 04;182(17)

Ichthyosis – also called fish scale disease – is a group of skin diseases, which are characterised by xerosis and scaling. Most commonly, the diseases are genetically inherited, but an acquired type also exists. Ichthyosis vulgaris (IV), is the most common type, affecting 1:250 individuals. Diagnosing IV can be challenging, because its clinical features are subject to great variation, ranging from mild cases with slight xerosis to severe cases with marked scaling and formation of fissures. In this review, IV and its most relevant differential diagnoses, X-linked ichthyosis, autosomal recessive congenital ichthyosis and acquired ichthyosis are reviewed.
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April 2020

A novel neurodegenerative spectrum disorder in patients with MLKL deficiency.

Cell Death Dis 2020 05 1;11(5):303. Epub 2020 May 1.

Oxford Centre for Neuroinflammation, Nuffield Department of Clinical Neurosciences, Division of Clinical Neurology, John Radcliffe Hospital, University of Oxford, Oxford, OX3 9DS, UK.

Mixed lineage kinase domain-like (MLKL) is the main executor of necroptosis, an inflammatory form of programmed cell death. Necroptosis is implicated in combating infections, but also in contributing to numerous other clinical conditions, including cardiovascular diseases and neurodegenerative disorders. Inhibition of necroptosis is therefore of therapeutic interest. Here we report two siblings both of whom over the course of 35 years developed a similar progressive, neurodegenerative spectrum disorder characterized by paresis, ataxia and dysarthria. Magnetic resonance imaging of their central nervous system (CNS) revealed severe global cerebral volume loss and atrophy of the cerebellum and brainstem. These brothers are homozygous for a rare haplotype identified by whole genome sequencing carrying a frameshift variant in MLKL, as well as an in-frame deletion of one amino acid in the adjacent fatty acid 2-hydroxylase (FA2H) gene. Functional studies of patient-derived primary cells demonstrated that the variant in MLKL leads to a deficiency of MLKL protein resulting in impairment of necroptosis. Conversely, shotgun lipidomic analysis of the variant in FA2H shows no impact on either the abundance or the enzymatic activity of the encoded hydroxylase. To our knowledge, this is the first report of complete necroptosis deficiency in humans. The findings may suggest that impaired necroptosis is a novel mechanism of neurodegeneration, promoting a disorder that shares some clinical features with primary progressive multiple sclerosis (PPMS) and other neurodegenerative diseases. Importantly, the necroptotic deficiency does not cause symptoms outside the nervous system, nor does it confer susceptibility to infections. Given the current interest in pharmacological inhibition of necroptosis by targeting MLKL and its associated pathways, this strategy should be developed with caution, with careful consideration of the possible development of adverse neurological effects.
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http://dx.doi.org/10.1038/s41419-020-2494-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195448PMC
May 2020

[Diagnosis, monitoring and treatment of tuberous sclerosis complex].

Ugeskr Laeger 2019 Nov;181(45)

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with highly varying disease manifestations, many of which cause extensive morbidity. There are international consensus criteria for the diagnosis, monitoring and treatment of TSC, and approved medical treatment for some of the most serious disease manifestations. However, organisation of a rational and coordinated care of TSC patients involves many different medical specialities and is only sparsely described. This review describes the interdisciplinary care of TSC patients at Aarhus University Hospital, Denmark.
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November 2019

Validity of first-time diagnoses of congenital epidermolysis bullosa in the Danish National Patient Registry and the Danish Pathology Registry.

Clin Epidemiol 2019 17;11:115-124. Epub 2019 Jan 17.

Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark,

Purpose: Congenital epidermolysis bullosa (CEB) is a group of rare monogenic genodermatoses. Phenotypically, the diseases vary in both severity and dissemination, which complicates studies of their epidemiology. To investigate the potential of using the Danish National Patient Registry (DNPR) for epidemiological research on CEB, we examined the positive predictive value (PPV) of a first-time diagnosis of CEB.

Methods: We identified patients with a record of CEB in DNPR and the Danish Pathology Registry (DPR) during January 1, 1977, until December 31, 2015. We restricted diagnoses from two dermatological departments and one regional hospital. Diagnoses in the DNPR are coded by the eighth and tenth revisions of the ICD (ICD-8 and ICD-10) and in the DPR by the Systematized Nomenclature of Medicine (SNOMED). We used clinical description in medical records, family history, histological findings, and molecular genetic investigations to validate diagnoses and classified them as rejected and confirmed. We estimated PPVs for any diagnosis, according to coding systems used, and for additional subdivisions of ICD-10 codes.

Results: We identified 116 cases from the hospital departments investigated and evaluated 96 medical records for validity. The overall PPV for probable CEB was 62.5% (95% CI: 52.5-71.5). For ICD-8, ICD-10, and SNOMED codes, the PPVs were 30.8% (95% CI: 11.4-57.7), 76.7% (95% CI: 65.8-84.9), and 0.0% (95% CI: 0.0-21.7), respectively. For the ICD-10 codes, we found the highest PPVs for diagnoses arising from the dermatological departments. For subdivisions of ICD-10 codes, PPVs were high for epidermolysis bullosa simplex and dystrophica.

Conclusion: The PPVs for first-time diagnoses of CEB registered in the two Danish nationwide registries investigated, DNPR and DPR, ranged from low to average. We therefore recommend that these data be used with caution and restricted to ICD-10 diagnoses from specialized dermatological departments.
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http://dx.doi.org/10.2147/CLEP.S184742DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340365PMC
January 2019

[Allergic contact dermatitis caused by curcumin-containing chlorhexidine].

Ugeskr Laeger 2018 Oct;180(42)

Contact dermatitis in connection with skin disinfection with yellow-coloured curcumin containing chlorhexidine solution prior to surgery is very rare. However, this case report presents a 59-year-old patient, who developed pruritic erythematous papules, patches and vesicles over the areas, where curcumin-containing disinfectant was applied. The diagnosis was made by allergic patch test, and the patient was treated with a topical steroid.
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October 2018

[Newborn with aplasia cutis caused by epidermolysis bullosa].

Ugeskr Laeger 2018 Oct;180(40)

Epidermiolysis bullosa (EB) is a rare group of genetic disorders, which are characterised by bullae and erosions on skin and mucosa. This case report describes a patient, who was born at full term without any complications. Both crurae were affected by aplasia cutis. Upon birth, the newborn was wrapped in a soft blanket, and prophylactic antibiotic treatment was started along with analgesics. Large bullae were punctured with a sterile needle, and erosions were treated with non-adherent wound dressings and special bandages. Gloves and shoes were custom-made. Autosomal recessive dystrophic EB was genetically confirmed, and the child was followed regularly by an EB-team.
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October 2018

Contact allergy in Danish children: Current trends.

Contact Dermatitis 2018 Nov 9;79(5):295-302. Epub 2018 Aug 9.

National Allergy Research Centre, Department of Dermatology and Allergy, University of Copenhagen, Herlev and Gentofte Hospital, Gentofte, Denmark.

Background: Contact allergy is common in children, but may be underdiagnosed. Importantly, the clinical relevance of specific allergies is subject to constant change, and it is therefore important to continuously monitor the trends and changes of contact allergies in the paediatric population.

Objectives: To identify possible changes in contact allergy and allergic contact dermatitis among Danish children referred for patch testing.

Methods: A retrospective study was performed based on patch test data from the Danish National Database of Contact allergy. The current data were compared with previously published data on Danish children referred for patch testing.

Results: Between 2012 and 2016, 1573 children and adolescents were patch tested. Overall, 385 (24.5%) had at least 1 positive patch test reaction. The overall prevalence was similar in boys and girls, across age groups, and in patients with and without atopic dermatitis. Statistically significant increases in contact allergy to fragrances and isothiazoliones were seen, whereas a decrease in nickel allergy was found.

Conclusion: Allergic contact dermatitis continues to be a common disease in children, and is even significantly increasing for some allergens.
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http://dx.doi.org/10.1111/cod.13079DOI Listing
November 2018

[Dyskeratosis follicularis].

Ugeskr Laeger 2018 May;180(19)

Dyskeratosis follicularis (or Darier's disease) is a genetic skin disease with an autosomal dominant inheritance and a prevalence of 1:100,000-1:35,000. Mutations in the gene ATP2A2 encoding the Ca2+-ATPase SERCA2 in the endoplasmatic reticulum lead to acantholysis and dyskeratosis in the epidermis, nails and mucosal membranes with resultant brown-yellow coloured, often infested skin papules and nail changes. The newly established Danish database for genodermatoses is embarking on an extensive registration of all Danish patients with Darier's disease. Hopefully, the establishment of this database will lead to better research and the formation of a patient association.
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May 2018

Childhood pneumothorax in Birt-Hogg-Dubé syndrome: A cohort study and review of the literature.

Mol Genet Genomic Med 2018 05 13;6(3):332-338. Epub 2018 Feb 13.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus N, Denmark.

Background: Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominantly inherited cancer predisposition syndrome associated with an increased risk of spontaneous pneumothorax (SP) and renal cell carcinoma in the adult population. Recent studies suggest that BHD accounts for up to 10% of all SP in adults and BHD in children with SP have been reported.

Methods: To explore to what extent BHD is the cause of childhood pneumothorax, we studied a Danish BHD cohort consisting of 109 cases from 22 families. Clinical data was gathered by review of medical records. A systematic literature search concerning childhood and adolescence pneumothorax in BHD was performed and identified publications reviewed.

Results: In our cohort, three of 109 BHD cases experienced childhood pneumothorax, corresponding to a prevalence of 3%. Reviewing the literature, data regarding more than 800 BHD cases were covered. Only seven previously published cases of childhood pneumothorax in BHD were identified.

Conclusion: Our findings suggest that BHD is likely the cause of a larger subset of childhood pneumothoraces than hitherto recognized. Awareness of BHD as a cause of childhood pneumothorax needs to be raised to provide patients and relatives with the possibility of specialized management of SP and regular renal cancer surveillance.
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http://dx.doi.org/10.1002/mgg3.373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6014440PMC
May 2018

Recurrent terbinafine resistant Trichophyton rubrum infection in a child with congenital ichthyosis.

Pediatr Dermatol 2018 Mar 16;35(2):259-260. Epub 2018 Jan 16.

Department of Dermato-Venereology, Aarhus University Hospital, Aarhus C, Denmark.

Dermatophytosis in children caused by Trichophyton rubrum is preferably treated with topical or systemic terbinafine. We report the first case of terbinafine resistance in a child with recurrent T. rubrum dermatophytosis and congenital ichthyosiform erythroderma.
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http://dx.doi.org/10.1111/pde.13411DOI Listing
March 2018

Successful Topical Treatment of Pigmented Purpuric Lichenoid Dermatitis of Gougerot-Blum in a Young Patient: A Case Report and Summary of the Most Common Pigmented Purpuric Dermatoses.

Case Rep Dermatol 2017 Sep-Dec;9(3):169-176. Epub 2017 Sep 15.

Department of Dermatology, Aarhus University Hospital, Aarhus, Denmark.

We report the case of a 12-year-old girl who presented a rash with reddish-brown patches on the trunk and extremities indicative of pigmented purpuric lichenoid dermatitis of Gougerot-Blum (PPLD). The histological findings were characteristic for PPLD, thus supporting the diagnosis. Topically administered corticosteroid led to a fast resolution of all symptoms. PPLD is not seen commonly in young patients and is most often described as responding poorly to treatment with topical corticosteroids. However, the case presented here shows both that PPLD can be seen in adolescence and that the condition may be treated successfully with an intense regime of topical corticosteroids. PPLD belongs to the group of pigmented purpuric dermatoses. The 5 most common pigmented purpuric dermatoses are summarized with respect to their clinical and paraclinical characteristics.
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http://dx.doi.org/10.1159/000479922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5637008PMC
September 2017

A stalactite in the aorta. Abnormal calcification in a patient with pseudoxanthoma elasticum.

Acta Cardiol 2017 Feb;72(1):77-78

a Department of Cardiology , Aarhus University Hospital , Aarhus , Denmark.

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http://dx.doi.org/10.1080/00015385.2017.1281555DOI Listing
February 2017

Development of hypomelanotic macules is associated with constitutive activated mTORC1 in tuberous sclerosis complex.

Mol Genet Metab 2017 04 1;120(4):384-391. Epub 2017 Mar 1.

Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.

TSC1 and TSC2 are genes mutated in the syndrome TSC (tuberous sclerosis complex). We describe a 3-generation family with 17 affected members, all presenting classic TSC features except renal manifestations. The disease segregates with a silent substitution in TSC2, c.4149C>T, p.(Ser1383Ser), which leads to the formation of an active donor splice site, resulting in three shorter alternatively spliced transcripts with premature stop codons. However a small amount of normal spliced transcript is apparently produced from the mutated allele, which might explain the milder phenotype. The gene products of TSC1/2 form a complex which at energy limiting states, down-regulates the activity of the regulator of protein synthesis, the mammalian target of rapamycin complex1 (mTORC1). As expected, in contrast to cultured control fibroblasts, starvation of cultured patient fibroblasts obtained from a hypomelanotic macule did not lead to repression of mTORC1, whereas partial repression was observed in patient fibroblasts obtained from non-lesional skin. The findings indicate that the development of hypomelanotic macules is associated with constitutive activated mTORC1, whereas mild deregulation of mTORC1 allows the maintenance of normal skin. Furthermore, the finding establishes the pathogenic effect of the "silent" c.4149C>T substitution and emphasizes the need for awareness when interpreting silent substitutions in general.
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http://dx.doi.org/10.1016/j.ymgme.2017.02.008DOI Listing
April 2017

Birt-Hogg-Dubé syndrome: a case report and a review of the literature.

Eur Clin Respir J 2017 20;4(1):1292378. Epub 2017 Feb 20.

Department of Respiratory Diseases and Allergy, Aarhus University Hospital , Aarhus , Denmark.

Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and management of the patients with BHDS are lacking. To present a case story and a review of the literature on BHDS in order to give an update on genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up strategies. Literature review and case story. A PubMed and Embase search identified 330 papers. BHDS is characterized by small benign tumors in the skin, spontaneous pneumothoraces caused by cysts in the lungs and a seven-fold increased risk of renal cancer. A case story of a young female patient presenting with pneumothorax and a family history of recurrent pneumothoraces in many relatives illustrates how the history and the diagnostic work up resulted in a diagnosis of BHDS. BHDS is a rare inherited disorder. In patients with spontaneous pneumothorax or cystic lung disease without any obvious explanation, BHDS should be considered. Concomitant skin manifestations, a family history of familiar pneumothorax, renal cancers and skin manifestations supports the suspicion of BHDS. Early diagnosis is important in order to subject patients to systematic screening for renal cancers. A radiological surveillance strategy for renal cancer is proposed.
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http://dx.doi.org/10.1080/20018525.2017.1292378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5345590PMC
February 2017

Severe bullous allergic contact dermatitis caused by diethylthiourea 20 years after sensitization to neoprene.

Contact Dermatitis 2017 Apr;76(4):236-237

Department of Dermato-Venereology, Aarhus University Hospital, 8000 Aarhus C, Denmark.

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http://dx.doi.org/10.1111/cod.12766DOI Listing
April 2017

Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant.

Acta Derm Venereol 2017 01;97(1):126-127

Department of Dermatology, Aarhus University Hospital, P.P. Oerumsgade 11, DK-8000 Aarhus, Denmark.

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http://dx.doi.org/10.2340/00015555-2485DOI Listing
January 2017

Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.

Mol Genet Genomic Med 2016 May 24;4(3):359-66. Epub 2016 Feb 24.

Division of Human GeneticsDepartment of PaediatricsInselspitalUniversity of BernCH-3010BernSwitzerland; Department of Clinical ResearchUniversity of BernCH-3010BernSwitzerland.

Background: Poikiloderma is defined as a chronic skin condition presenting with a combination of punctate atrophy, areas of depigmentation, hyperpigmentation and telangiectasia. In a variety of hereditary syndromes such as Rothmund-Thomson syndrome (RTS), Clericuzio-type poikiloderma with neutropenia (PN) and Dyskeratosis Congenita (DC), poikiloderma occurs as one of the main symptoms. Here, we report on genotype and phenotype data of a cohort of 44 index patients with RTS or related genodermatoses.

Methods: DNA samples from 43 patients were screened for variants in the 21 exons of the RECQL4 gene using PCR, SSCP-PAGE analysis and/or Sanger sequencing. Patients with only one or no detectable mutation in the RECQL4 gene were additionally tested for variants in the 8 exons of the USB1 (C16orf57) gene by Sanger sequencing. The effect of novel variants was evaluated by phylogenic studies, single-nucleotide polymorphism (SNP) databases and in silico analyses.

Results: We identified 23 different RECQL4 mutations including 10 novel and one homozygous novel USB1 (C16orf57) mutation in a patient with PN. Moreover, we describe 31 RECQL4 and 8 USB1 sequence variants, four of them being novel intronic RECQL4 sequence changes that may have some deleterious effects on splicing mechanisms and need further evaluation by transcript analyses.

Conclusion: The current study contributes to the improvement of genetic diagnostic strategies and interpretation in RTS and PN that is relevant in order to assess the patients' cancer risk, to avoid continuous and inconclusive clinical evaluations and to clarify the recurrence risk in the families. Additionally, it shows that the phenotype of more than 50% of the patients with suspected Rothmund-Thomson disease may be due to mutations in other genes raising the need for further extended genetic analyses.
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http://dx.doi.org/10.1002/mgg3.209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867568PMC
May 2016

Allergic Contact Dermatitis Caused by P-Tert-Butylphenol-Formaldehyde Resin in Orthopedic Braces.

Pediatr Dermatol 2016 May 13;33(3):e204-e205. Epub 2016 Apr 13.

Department of Dermatology and Venereology, Aarhus University Hospital, Aarhus, Denmark.

P-tert-butylphenol-formaldehyde resin is a widely used adhesive chemical. It is used in a broad range of products and should be kept in mind when encountering children with suspected allergic contact dermatitis. We present a girl who developed contact allergy to p-tert-butylphenol-formaldehyde resin used in orthopedic braces.
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http://dx.doi.org/10.1111/pde.12836DOI Listing
May 2016

Photosensitivity in atopic dermatitis complicated by contact allergy to common sunscreen ingredients.

Contact Dermatitis 2016 Jan;74(1):56-8

Department of Dermatology and Venereology, Aarhus University Hospital, 8000 Aarhus C, Denmark.

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http://dx.doi.org/10.1111/cod.12477DOI Listing
January 2016

[Aplasia cutis congenita].

Ugeskr Laeger 2015 Oct;177(42):V09140483

Aplasia cutis congenita (ACC) is a rare congenital defect of the skin, with an estimated incidence of 1:3,000-10,000 births. We report three cases of non-syndromic ACC, of which one was not acknowledged immediately after birth. All the patients were treated conservatively or with standard wound/encephalocele treatment with satisfying results. Children born with ACC should be examined for other congenital defects and referred to dermatological assessment and treatment of the lesion.
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October 2015

Contact Allergy in Danish Healthcare Workers: A Retrospective Matched Case-control Study.

Acta Derm Venereol 2016 Feb;96(2):237-40

National Allergy Research Centre, Department of Dermato-Allergology, Copenhagen University Hospital Gentofte, DK-2900 Hellerup, Denmark.

Contact dermatitis in healthcare workers is a world wide problem. We conducted a retrospective observational study of the patch-test results of 1402 healthcare workers and 1402 matched controls with contact dermatitis who were treated at 3 hospitals departments in Denmark between 2007 and 2014. The primary objective was to determine whether healthcare work was associated with contact allergy to thiuram mix. Unadjusted univariate analyses revealed that healthcare work was significantly associated with occupational contact dermatitis and hand dermatitis. Contact allergy to thiuram mix was more common in healthcare workers was significantly associated with having occupational contact dermatitis, hand dermatitis and older age. In conclusion, we report here a potential problem of contact allergy to thiurams in healthcare workers with contact dermatitis. Legislative authorities may in the future focus on the use of rubber accelerators in, for example, protective gloves, which are widely used by healthcare professionals.
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http://dx.doi.org/10.2340/00015555-2202DOI Listing
February 2016

A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.

Eur J Med Genet 2015 Apr 25;58(4):222-9. Epub 2015 Feb 25.

Department of Clinical Genetics, Aarhus University Hospital, Skejby, Denmark; Department of Clinical Medicine, Aarhus University, Aarhus, Denmark. Electronic address:

We describe a Danish family with an, until recently, unknown X-linked disease with muscular dystrophy (MD), facial dysmorphology and pulmonary artery hypoplasia. One patient died suddenly before age 20 and another was resuscitated from cardiac arrest at the age of 28. Linkage analysis pointed to a region of 25 Mb from 123.6 Mb to 148.4 Mb on chromosome X containing over 100 genes. Exome sequencing identified a single nucleotide splice site mutation c.502-2A > T, which is located 5' to exon 6 in the gene encoding four and a half LIM domain 1 (FHL1) protein. FHL1 expresses three main splice variants, known as FHL1A, FHL1B and FHL1C. In healthy individuals, FHL1A is the predominant splice variant and is mainly found in skeletal and cardiac muscle. The FHL1 transcript profiles from two affected individuals were investigated in skin fibroblasts with quantitative real-time PCR. This demonstrated loss of isoform A and B, and an almost 200-fold overexpression of isoform C confirming that lack of FHL1A and overexpression of FHL1C results in an extended phenotype of EDMD as recently shown by Tiffin et al. [2013].
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http://dx.doi.org/10.1016/j.ejmg.2015.02.003DOI Listing
April 2015
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