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.

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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.

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.

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.

[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.