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Abstract: Ichthyosis bullosa of Siemens is a genodermatosis, which presents in childhood with mild blistering and hyperkeratosis. The heterogenous clinical presentation may lead to misdiagnosis, even in the presence of a strong family history. Genetic testing and counselling may help in diagnosis and treatment.
We describe a patient with overlapping clinical features of Muckle–Wells syndrome and neonatal‐onset multisystem inflammatory disease with an absence of mutation in exon 3 of the CIAS1/PYPAF1/NALP3 gene. Myelodysplasia and cerebrovascular accident were additional features in this patient, which to our knowledge have not been previously described in association with these disorders. The urticarial...
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