Hereditary angioedema: do patients have a specific "digital fingerprint" in Danish registries?

INTRODUCTION: Hereditary angioedema (HAE) is a potentially life-threatening genetic disorder characterized by recurrent episodes of angioedema. From the onset of symptoms until diagnosis, patients often have several contacts with the healthcare system. It was hypothesized that a "digital fingerprint" of undiagnosed HAE patients could be identified in Danish registries. METHODS: This study compared patients with a control group of patients with a diagnosis of Quincke's edema (QE) or bee/wasp allergy because they could have phenotypic similarities. RESULTS: QE was the most common diagnosis code in the hospital sector among HAE patients before a specific diagnosis of HAE was established. HAE patients had been seen at the hospital on average once every other year before the diagnosis was established, and on average once during the year before the diagnosis was established. Many patients contacted a practicing dermatologist during the year before the diagnosis was established. CONCLUSIONS: HAE patients had several hospital contacts due to swelling attacks during the years before their diagnosis was established, and half of them consulted a dermatologist. It was not possible to identify a specific "digital fingerprint" in Danish registries regarding specific procedures or diagnoses distinguishing them from the control group. It is therefore recommended that hospitalized patients with angioedema of unknown cause be screened for HAE.

Christmas article: Case of uncombable hair syndrome discovered after publication of article in Ugeskrift for Læger.

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 molecular genetics later confirmed the diagnosis of uncombable hair syndrome. This case report serves as an example of how digital access enables the attention of patients and relatives to be directed towards rare conditions.

Majocchi's Granuloma - The Great Mimicker: A Case Report.

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 an altered clinical appearance, which may confuse the clinician even further. This case report presents a 54-year-old previously healthy man with a 4-month history of a painful and pruritic rash in the genitoinguinal region. The patient's general practitioner had unsuccessfully attempted to treat the rash with topical terbinafine, econazole-triamcinolone, and betamethasone-fusidic acid, in addition to peroral dicloxacillin capsules. On examination, there were multiple red-bluish nodules and pustules coalescing into infiltrating erythematous plaques on both thighs and in the pubic region. Fungal cultures were negative, but the clinical features together with the history of prolonged use of combined topical steroids and antifungals raised suspicion of a deep fungal infection. Histopathological skin examination revealed deep suppurative and granulomatous folliculitis with ruptured hair follicles which was consistent with a diagnosis of Majocchi's granuloma. Treatment with itraconazole capsules was initiated, and after a 16-week course of systemic antifungal therapy, the rash resolved. In conclusion, our case report presents a case of Majocchi's granuloma, which is a great mimicker, especially for non-dermatologists. It is therefore important that the diagnosis is considered as a differential diagnosis, even though a patient has previously been treated with a topical antifungal.

Keratosis pilaris. / Keratosis pilaris.

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 specific syndromes or be associated with other diseases. The aim of this article is to give an overview of the different variants of keratosis pilaris and discuss the pathogenesis and treatment options.

Netherton Syndrome.

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

A phototoxic drug reaction due to topical NSAIDs.

We present a case with a phototoxic reaction following topical use of NSAID. The phototoxic reaction was initially mistaken for cellulitis which led to treatment with dicloxacillin, which led to an exanthematous drug eruption. The patient was treated with topical clobetasol propionate and oral non-sedating antihistamines. Follow-up revealed post-inflammatory hypopigmentation.

[Congenital hair shaft anomalies].

This review covers congenital hair shaft anomalies, which are conditions affecting hair shaft morphology. Sometimes suspected with the naked eye, often in need of microscopic examination to properly diagnose, these conditions could lead to the discovery of a complex genetic syndrome. Further knowledge is needed in order to establish a diagnosis, approach treatment alternatives and shed light on prognoses, which benefits patients. Our aim is to provide an updated summary of pathogenesis, clinical findings, treatment options and prognosis as well as psychosocial impact.