We found a match
Your institution may have rights to this item. Sign in to continue.
- Title
Comment on "Cutaneous mastocytosis in a child with a de novo GNB1 mutation".
- Authors
Ramírez, Claudia Guerrero; Azaña Defez, José Manuel; Clemente, Sara Plata; Sanz, Pablo López; Córdoba, Silvia Manso
- Abstract
This article discusses a case of cutaneous mastocytosis in a child with a de novo GNB1 mutation. The patient, a 2-year-old girl with global developmental delay, presented with skin lesions on her left cervical region and left thigh. A skin biopsy confirmed the diagnosis of non-Langerhans cell histiocytosis. The article also mentions other cases of GNB1 encephalopathy associated with cutaneous mastocytosis. The authors emphasize the importance of performing a biopsy for an accurate diagnosis.
- Subjects
NON-langerhans-cell histiocytosis; LANGERHANS-cell histiocytosis; MAST cell disease; SKIN biopsy; DEVELOPMENTAL delay
- Publication
Pediatric Dermatology, 2023, Vol 40, Issue 6, p1164
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/pde.15279