Rare Diseases Symptoms Automatic Extraction

A new germline mutation in KIT associated with diffuse cutaneous mastocytosis in a Chinese family.

[cutaneous mastocytosis]

Diffuse cutaneous mastocytosis (DCM) is an extremely rare disease characterized by massive proliferation of mast cells infiltrating the entire skin. We report a Chinese family with indolent DCM, and detection of a new germline KIT mutation located in the fifth immunoglobulin-like loop of the KIT protein, which probably results in a gain-of-function effect and consequent overactivation of mast cells. Our report expands the knowledge of correlations between the genotype of KIT mutations and the phenotype of DCM.

Diseases presenting "which probably results in a gain-of-function effect and consequent overactivation of mast cells" symptom

  • cutaneous mastocytosis

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