Difficult Diagnoses in an Austere Environment: A Clinical Vignette-The Presentation, Diagnosis, and Management of Ichthyosis


Pickard-Gabriel CJ, Rudinsky S 13(1). 61 - 65 (Journal Article)

Lamellar ichthyosis (LI) is a rare inherited skin disorder of cornification, with an incidence of approximately 1 in 200,000 births. It is one of three types of autosomal recessive congenital ichthyosis (ARCI), a collective term for the spectrum of nonsyndromic ichthyoses caused by a number of well-described genetic mutations. We describe the case of LI diagnosed in a 10-day-old child of a Somali refugee at a free clinic in downtown Djibouti. Initial concern was for staphylococcal infection versus congenital disease. With the use of digital photographs, consultation with experts accessed through the Army Teledermatology Consultation Service supported a diagnosis of ARCI. Providing care to patients in austere environments can present numerous medical challenges. A provider cannot be expected to be able to diagnose and treat every disease and disorder alone, especially if there is a language barrier. Telemedicine can help close the gap in knowledge, particularly when presented with a challenging case. With a novel presentation, simply taking a photograph and e-mailing a consultant can quickly augment one's medical acumen, ensuring appropriate diagnosis and treatment.

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