A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia.

We report on a 2-year-old girl presenting with a severe form of hypohidrotic ectodermal dysplasia (HED). The patient presented with hypotrichosis, anodontia, hypohidrosis, frontal bossing, prominent lips and ears, dry, pale skin, and dermatitis. The patient had chronic rhinitis with malodorous nasal discharge. The girl was the second born child of first-cousin immigrants from Northern Iraq. A novel homozygous mutation (c.84delC) in the EDAR gene was identified. This mutation most likely causes a frameshift in the protein product (p.S29fs*74). This results in abolition of all ectodysplasin-mediated NF-kB signalling. This complete loss-of-function mutation likely accounts for the severe clinical abnormalities in ectodermal structures in the described patient.

A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database.

[Recurrent erythema multiforme triggered by herpes simplex virus]. / Recidiverende erythema multiforme udløst af herpes simplex-virus.

We describe two cases of recurrent erythema multiforme, both associated to infection with herpes simplex virus. The importance of subclinical herpes is illustrated. Antiviral and additional treatment is described.

Severe scurvy after gastric bypass surgery and a poor postoperative diet.

UNLABELLED: After bariatric gastric bypass surgery patients are at risk of developing micronutrient deficiencies. If gastric bypass surgery is followed by a vitamin deficient diet the patients have a risk of developing vitamin-C deficiency. When spontaneous ecchymosis is observed in the skin, in at-risk patients, scurvy must be considered. When treated with large doses of vitamin-C the symptoms of scurvy rapidly improve even if the patient has developed multiple organ dysfunction syndrome. KEYWORDS: Scurvy; Gastric bypass surgery; Multiorgan dysfunction.

[Icatibant is a new treatment option in life-threatening angioedema triggered by angiotensin-converting enzyme inhibitor]. / Icatibant er en ny behandlingsmulighed ved livstruende angiotensinkonverterende enzym-inhibitor-udløst angioødem.

A 78 year-old woman with life-threatening angiotensin-converting enzyme inhibitor (ACE-i) induced angioedema was unresponsive to conventional treatment with corticosteroids, antihistamines and epinephrine. She was successfully treated with icatibant licensed for treatment of hereditary angioedema knowing that both conditions involve bradykinin induced activation of bradykinin B2 receptors. Randomised, controlled trials are warranted to document the efficacy of icatibant in ACE-i angioedema.

Budesonide-induced periorificial dermatitis presenting as chalazion and blepharitis.

We report a case of periorificial dermatitis caused by suboptimal inhalation of budesonide for asthma. The initial skin lesions presented in the eye surroundings, leading to diagnostic difficulties and treatment of presumed chalazion and staphylococcal folliculitis. After several months, the patient developed perioral papules and pustules and was diagnosed with periorificial dermatitis. He was efficiently treated with topical metronidazole and oral erythromycin.