This could potentially be of importance in genetically differentiating between NFJS and DPR.The disruption of the KRT14 gene in DPR suggests this gene is important during the early development of dermatoglyphics and sweat glands. Because of the aforementioned genetic similarity between NFJS and DPR, some researchers have suggested treating the disorders as a single condition. Diagnosis
Diagnosis of DPR begins with review of a patients medical history, laboratory results, and clinical examination of symptoms. Biopsy and histopathological examination can be used to test for the presence of hyperkeratosis, parakeratosis, follicular plugging, and basal cell melanization, all indicators of DPR. Furthermore, abnormalities in skin pigmentation patterns as well as the presence of palmoplantar keratoderma with yellow tinting of the skin can indicate a possible case of DPR. Despite the presence of outward indicators, routine blood testing will not yield abnormal results. While the aforementioned symptoms of DPR are outwardly identifiable, DPR is a rare genetic disease that requires genetic analysis to yield a confirmed diagnosis.The Genetic Testing Registry lists 15 clinical genetic tests used in obtaining a diagnosis of this disorder. Two of these tests utilize Targeted Variant Analysis, thirteen utilize sequence analysis of the entire coding region, and seven utilize deletion and duplication analysis. The type of test ordered may depend on the clinicians judgement or access to specific testing methods. Management
To date, there is no medical treatment specific to DPR, however symptom management of palmoplantar hyperkeratosis as well as other, secondary symptoms is possible through the use of topical steroids, keratolytics, and emollients.
Furthermore, cold compresses can be used to treat blistering. Epidemiology
Since first being reported, only 12 cases of DPR have been described and diagnosed. Many studies and diagnoses have come from the same family, but a single case report was found in India. In a study conducted by Lugassy et al., the five families being studied were from geographically different places: one family, for example was Swiss, another was from the United States, and a third was from the United Kingdom. See also
List of cutaneous conditions caused by mutations in keratins

References


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