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Pili annulati in a case of Rothmund–Thomson syndrome with a novel frameshift mutation in RECQL4

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subtype of Well’s syndrome or a separate disease entity. Absence of eosinophilic degranulation, flame figures and peripheral blood eosinophilia, as described in our case, speaks in favour of two distinct… Click to show full abstract

subtype of Well’s syndrome or a separate disease entity. Absence of eosinophilic degranulation, flame figures and peripheral blood eosinophilia, as described in our case, speaks in favour of two distinct entities. However, further studies investigating pathogenic mechanism of cutaneous eosinophilia are required to define EAE more precisely. Therapy of EAE still remains challenging. Hydroxychloroquine and chloroquine have been reported to be effective in EAE, most probably due to their ability to inhibit the chemotaxis of eosinophils. There are single reports describing good response to prednisolone, indomethacin, dapsone and ultraviolet B (UVB) therapy. In our patient, the disease resolved spontaneously, and 12 months later, a sustained remission was evident. The present case underlines that systemic symptoms may occur in EAE and that clinicopathological correlation plays a crucial role in distinguishing EAE from its differential diagnoses.

Keywords: rothmund thomson; case; pili annulati; case rothmund; thomson syndrome; annulati case

Journal Title: Journal of the European Academy of Dermatology and Venereology
Year Published: 2018

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