When Mast Cells Run Amok: A Comprehensive Review and Case Study on Severe Neonatal Diffuse Cutaneous Mastocytosis

Author:

Olteanu Emilian-Gheorghe12ORCID,Bataneant Mihaela34,Puiu Maria56,Chirita-Emandi Adela56ORCID

Affiliation:

1. Research Center for Pharmaco-Toxicological Evaluations, Faculty of Pharmacy, “Victor Babes” University of Medicine and Pharmacy, Piaţa Eftimie Murgu Nr. 2, 300041 Timisoara, Romania

2. Center for Research and Innovation in Personalized Medicine of Respiratory Diseases, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania

3. Discipline of Pediatrics, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania

4. Department of Oncology and Hematology, Clinical Emergency Hospital for Children “Louis Turcanu”, 300041 Timisoara, Romania

5. Discipline of Genetics and Center of Genomic Medicine, “Victor Babes” University of Medicine and Pharmacy, 300041 Timisoara, Romania

6. Regional Center of Medical Genetics Timis, Clinical Emergency Hospital for Children “Louis Turcanu”, 300041 Timisoara, Romania

Abstract

Neonatal diffuse cutaneous mastocytosis (NDCM) is defined as the infiltration of the epidermis by a clonal proliferation of mast cells, observed at birth, without initial signs of systemic involvement. The typical driver mutation is in the KIT gene. We report a rare case of a boy, born at term, already presenting at birth with generalized subcutaneous nodules on the face, scalp, trunk, back, hands, and feet. The spleen, liver, and inflammatory markers were normal at birth. Tryptase was significantly elevated. A bone marrow biopsy showed no mast cell involvement at age 2 months. A punch biopsy at age 2 months revealed CD117-positive cells diffusely infiltrating the skin, with subsequent DNA NGS sequencing for the formalin-fixed paraffin embedded tissue (FFPE) identifying the pathogenic NM_000222.3:c.1504_1509dup; p.(Ala502_Tyr503dup) variant in the KIT gene previously associated with cutaneous mastocytosis. At 2 years follow-up, he had splenomegaly and multiple cervical and inguinal adenopathy, while the skin nodules persisted, especially on the scalp with accompanying pruritus. He received oral and local sodium cromoglycate, oral antihistamines, antibiotic cream for skin infection, and iron supplementation; however, compliance to treatment was relatively low. The prognosis is difficult to predict, as he developed systemic involvement, failure to thrive, and mild psychomotor delay. A case aggregation of NDCM reported in the literature was performed to provide a comprehensive overview of this rare pathology, to better understand the prognosis. NDCM is a life-threatening disease with severe complications. Almost half had severe complications, such as mast hepatosplenomegaly, adenopathy, bacterial infections, mast cell leukaemia, and systemic involvement.

Publisher

MDPI AG

Subject

Genetics (clinical),Genetics

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