Congenital Mastocytosis: Case Report and Review of the Literature

Turnbull, Lacie M; Calhoun, Darlene A; Agarwal, Vibhuti; Drehner, Dennis; Chua, Caroline

doi:10.7759/cureus.10565

Cited by 5 publications

(8 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Diagnostic markers (serum tryptase, serum and urine histamine, urine N-methylhistamine) in the present case were elevated blood tryptase, similar to cases reported by Heide et al [5], Chaudhary et al [6], Jenkinson et al [7], Mann et al [27], Walker et al [28], Duckworth et al [29], Koga et al [30], Lange et al [31], Ghiasi et al [32], Folch et al [34], and Turnbull et al [35] that reported elevated markers. However, urine N-methylhistamine was not performed in this case.…”

Section: Discussionsupporting

confidence: 86%

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

Olteanu,

Bataneant,

Puiu

et al. 2023

Genes

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionsupporting

confidence: 86%

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

Olteanu,

Bataneant,

Puiu

et al. 2023

Genes

View full text Add to dashboard Cite

show abstract

“…Furthermore, numerous studies have shown that rubbing and scratching of the skin, sudden temperature changes (such as hot baths or exposure to heat), teething, viral infections, or vaccinations may induce blistering or provoke other MC mediator-related symptoms [ 13 , 28 , 40 , 58 , 59 ]. A brief review of case reports on DCM, published since 1962, is presented in Table 2 [ 28 , 35 , 36 , 38 , 39 , 40 , 41 , 52 , 53 , 54 , 58 , 60 , 62 , 63 , 64 , 65 , 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 ].…”

Section: Clinical Presentation Of Diffuse Cutaneous Mastocytosismentioning

confidence: 99%

“…Furthermore, numerous studies have shown that rubbing and scratching of the skin, sudden temperature changes (such as hot baths or exposure to heat), teething, viral infections, or vaccinations may induce blistering or provoke other MC mediator-related symptoms [13,28,40,58,59]. A brief review of case reports on DCM, published since 1962, is presented in Table 2 [28,35,36,[38][39][40][41][52][53][54]58,60,[62][63][64][65][66][67][68][69][70][71][72][73][74][75][76][77][78][79][80][81]. As mentioned above, the familial occurrence of DCM has also been reported [52][53][54].…”

Section: Clinical Presentation Of Diffuse Cutaneous Mastocytosismentioning

confidence: 99%

Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease

Rydz,

Lange,

Ługowska-Umer

et al. 2024

IJMS

View full text Add to dashboard Cite

Mastocytosis is a heterogeneous disease characterized by the expansion and accumulation of neoplastic mast cells in various tissues. Diffuse cutaneous mastocytosis (DCM) is a rare and most severe form of cutaneous mastocytosis, which typically occurs in childhood. There have been reports of a familial DCM with specific gene mutations, indicating both sporadic and hereditary factors involved in its pathogenesis. DCM is associated with severe MC mediator-related symptoms and an increased risk of anaphylaxis. The diagnosis is based on the appearance of skin lesions, which typically show generalized thickening, erythroderma, blistering dermographism, and a positive Darier’s sign. Recognition, particularly in infants, is challenging due to DCMs resemblance to other bullous skin disorders. Therefore, in unclear cases, a skin biopsy is crucial. Treatment focuses on symptom management, mainly including antihistamines and mast cell stabilizers. In extremely severe cases, systemic steroids, tyrosine kinase inhibitors, phototherapy, or omalizumab may be considered. Patients should be equipped with an adrenaline autoinjector. Herein, we conducted a comprehensive review of literature data on DCM since 1962, which could help to better understand both the management and prognosis of DCM, which depends on the severity of skin lesions, intensity of mediator-related symptoms, presence of anaphylaxis, and treatment response.

show abstract

“…Mastocytosis is a heterogenous disorder characterized by accumulation of mast cells in diff erent tissues [1]. Mastocytosis may be limited to skin or it may involve bone marrow, liver, spleen and lymphatic tissue as systemic mastocytosis.…”

Section: Introductionmentioning

confidence: 99%

Anaphylaxis Accompanying Mastocytoma in Childhood: A Case Report

Rekabi,

Hashemi Moghaddam1

et al. 2023

J Biomed Res Environ Sci

View full text Add to dashboard Cite

Background: Mastocytosis is a heterogenous disorder characterized by accumulation of mast cells in different tissues. Mastocytosis may be limited to skin or it may involve bone marrow, liver, spleen and lymphatic tissue as systemic mastocytosis. Patients may also present with anaphylaxis. Here we report a six-year-old boy with atopic dermatitis, wheat anaphylaxis, and solitary mastocytoma. Case report: The dermatologic manifestations of atopic dermatitis appeared early in his first days of life and were all over his face with a dark red infiltrate, edema, small vesicles and severe itching. At the age of 3 months, the patient was fed with an ordinary milk formula for the first time, which immediately resulted in severe vomiting, generalized urticaria and angioedema of the lips and eyes, followed by lethargy and atony. The result of RAST test indicated allergy to wheat and cow’s milk. At the age of two years, his mother noticed a rubber-like skin lesion on his left arm with positive Darier sign. Laboratory tests were all within normal limits except IgE and serum tryptase which were 1425 IU/mL and 31 ng/ml, respectively. Conclusion: To conclude, Anaphylaxis may accompany cutaneous forms of mastocytosis even mastocytoma. Delayed diagnosis due to the lack of awareness may lead to recurrent life-threatening events, particularly in infancy when anaphylactic reactions are easily misdiagnosed as infants are not capable of expressing their symptoms.

show abstract

Congenital Mastocytosis: Case Report and Review of the Literature

Cited by 5 publications

References 15 publications

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

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

Diffuse Cutaneous Mastocytosis: A Current Understanding of a Rare Disease

Anaphylaxis Accompanying Mastocytoma in Childhood: A Case Report

Contact Info

Product

Resources

About