Search results for "Acrocyanosis"
showing 2 items of 2 documents
Expanding the clinical phenotype of patients with a ZDHHC9 mutation.
2013
In 2007, 250 families with X-linked intellectual disability (XLID) were screened for mutations in genes on the X-chromosome, and in 4 of these families, mutations in the ZDHHC9 gene were identified. The ID was either isolated or associated with a marfanoid habitus. ZDHHC9 encodes a palmitoyl transferase that catalyzes the posttranslational modification of NRAS and HRAS. Since this first description, no additional patient with a ZDHHC9 mutation has been reported in the literature. Here, we describe a large family in which we identified a novel pathogenic ZDHHC9 nonsense mutation (p.Arg298*) by parallel sequencing of all X-chromosome exons. The mutation cosegregated with the clinical phenotyp…
Kutane Manifestationen der essentiellen Thrombozyth�mie Erythromelalgie, isch�mische Akrozyanose, Livedo racemosa*
1995
A case report is presented to illustrate the cutaneous manifestations in essential thrombocythaemia. Knowledge of the related skin lesions may lead to earlier detection of this myeloproliferative disorder. Treatment may prevent severe haemorrhagic or thrombotic complications. Erythromelalgia is causally related to thrombocythaemia; prompt relief of painful symptoms after treatment with aspirin is typical.