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Home , Mastocytosis, Urticaria pigmentosa

Dermatology Reports 2021; volume 13:9021

Diffuse cutaneous , diffuse cutaneous masquerading as linear IgA mastocytosis (DCM), , Correspondence: Tuntas Rayinda, Department and teleangiectacia macularis eruptive of Dermatology and Venereology, Faculty of bullous dermatosis of child- Medicine, Public Health, and Nursing, perstans.4,5 Diffuse cutaneous mastocy- hood Universitas Gadjah Mada, Yogyakarta, tosis is rare form of pediatric mastocy- Indonesia. tosis, and can manifest as an eruption E-mail: [email protected] Tuntas Rayinda, Dyah Ayu Mira of papules, erythematous plaques, bul- Oktarina, Retno Danarti lae, and erythroderma followed by Key words: cutaneous mastocytosis, bullous Department of Dermatology and 6 mastocytosis, chronic bullous disease of child- thickening and pigmentation changes. hood, linear IgA dermatosis of childhood. Venereology, Faculty of Medicine, Public The diagnosis of DCM in children, Health and Nursing, Universitas Gadjah especially those presenting as bullous Acknowledgements: Authors would like to Mada, Yogyakarta, Indonesia eruption (namely, diffuse bullous cuta- thank the staff in Klinik Bahasa for the proof- neous mastocytosis), is a challenge for reading and language editing. clinicians and symptoms can mimic Contributions: The authors contributed equally. Abstract other bullous eruptions. Other than DCM, the bullous eruption in infants Conflict of interest: The authors declare no Diffuse cutaneous mastocytosis is a potential conflict of interest. rare form of cutaneous mastocytosis and children can also develop in either that can appear in heterogeneous clini- acquired or inherited bullous disorders, Funding: None. cal presentations, including eruption of such as linear IgA bullous dermatosis in papules, erythematous plaques, blisters, childhood (LABD), staphylococcal Ethics approval: Approved. scalded skin syndrome, juvenile bul- and erythroderma. We report a 1.5- Consent to publication: Received. year-old boy who presented with itchy lous pemphigoid, and epidermolysis only wheals and blisters spreading on his bullosa simplex. Availability of data and materials: Available body. The patient was initially man- We present a DCM case in a child from the authors. aged as a linear IgA bullous dermatosis initially managed as LABD because of Please cite this article as: Rayinda T, of childhood (LABD) because of the its similar clinical symptoms and fea- tures of linear IgA deposits on the base-useOktarina DAM, Danarti R. Diffuse cutaneous similarity of clinical symptoms and the mastocytosis masquerading as linear IgA bul- presenting of linear IgA deposits at the ment membrane in direct immunofluo- lous dermatosis of childhood. Dermatol Rep basement membrane. Due to the devel- rescence (DIF) examinations. This case 2021;13:9021. opment of urticarial plaque after the report emphasizes the importance of comprehensive clinical, histological Received for publication: 21 November 2020. resolution of the blisters, the diagnosis Revision received: 18 January 2021. of diffuse cutaneous mastocytosis was and DIF examinations in managing Accepted for publication: 20 January 2021. made based on clinical, histopathologi- children with acquired bullous erup- cal (hematoxylin-eosin, Giemsa, and tion. Moreover, clinicians should con- This work is licensed under a Creative sider DCM as one of the differential Commons Attribution-NonCommercial 4.0 toluidine blue staining), and direct International License (CC BY-NC 4.0). immunofluorescent examinations (IgA, diagnoses of infants or children pre- IgG, IgM, C3). The symptoms were senting with bullous lesions. ©Copyright: the Author(s), 2021 improved following and Licensee PAGEPress, Italy Dermatology Reports 2021; 13:9021 oral treatment. doi:10.4081/dr.2021.9021 Case Report Non-commercial urticaria with unknown causes. There Introduction A 1.5-year-old boy was brought to was no family history with a similar Mastocytosis is a group of diseases our center with blisters on his face and condition. with clinical symptoms caused by mas- body, starting three days before the Dermatological examination sive infiltration of mast cells in various admission. Six days earlier, the patient revealed tense blisters with clear fluid tissues, including skin, blood, gastroin- had fever, cough, and runny nose. The in various sizes scattered on the face testinal, cardiovascular, and muscu- patient was treated with paracetamol and back. Several skin-colored papules loskeletal systems.1 Nettleship first and amoxicillin for two days by a gen- and skin erosions were also found on described the disease entity in 1889 as eral practitioner (GP). After the fever his body (Figure 1). Nikolsky’s sign, a rare form of urticaria.2 Mastocytosis receded, flaccid blisters developed on Darier sign, and dermographism were has a prevalence of 1 in 10,000 popula- his face and body. negative during examination. Neither tion, and the incidence ranges from 5 to In past medical history, the patient enlargement nor 10 cases per million individuals per had experienced a similar complaint hepatosplenomegaly were found. year in the United States.3 one month before. At that time, the Based on clinical examination, the Cutaneous mastocytosis is the most complaint was not treated and he self- working diagnosis established at that common form of mastocytosis in chil- improved within two weeks. The time was LABD, and the therapy given dren and has several forms, including patient also had a history of recurrent was normal saline (0.9% sodium chlo-

[page 4] [Dermatology Reports 2021; 13:9021] Case Report ride) gauze dressing on the top of bul- lae followed by silver sulfadiazine 1% cream applied twice daily to areas experiencing erosion. At this appoint- ment, skin was considered, but the parents refused. Four months later, the patient came back with the appear- ance of rashes that felt very itchy. The lesions had emerged on the chest and spread to the back and extremities. At this appointment, no new blisters had developed. Dermatology examination revealed wheals and hyperpigmented patches, distributed on the face, chest, back, and abdomen (Figure 1). The patient was still managed as LABD and was given methylprednisolone 4 mg tablets twice daily for seven days and cetirizine 2.5 mg daily. Two weeks later, the symptoms were improved, but there were still new Figure 1. Clinical picture of the patient at initial visit: blisters and erosion distributed on erythematous wheals on the back, face, the trunk (A), and the development of new urticarial plaques after blisters resolution (B). and chest. During the examination, only use

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Figure 2. Histopathology staining with hematoxylin-eosin (A1, A2), Toluidine blue (B1, B2), and Giemsa (C1, C2), showed massive infiltration of mast cells in the epidermis and dermis.

[Dermatology Reports 2021; 13:9021] [page 5] Case Report more erythematous patches and wheals linear IgA deposits the basement mem- mature mast cells and triggers the were found with hyperpigmented brane. The staining for IgM, IgG, and release of mast cells’ mediators. In patches distributed on the face, chest, C3 were negative (Figure 3). about 60% to 80% of mastocytosis back, and abdomen. There were no Based on the clinical and support- cases, somatic mutations of the gene signs of Darier nor dermographism. At ing examination, the diagnosis of cuta- encoding the Kit protein cause this point, the parents agreed to give neous mastocytosis was made in this autocrine dysregulation and activation consent for the skin biopsy procedure patient. The therapy given was ceti- of Kit in the absence of the SCF for the patient. rizine 2.5 mg per day and topical mois- ligand.7,8 The excessive activation of Histopathological examination with turizer. Two weeks later, there were no Kit protein leads to the involvement of hematoxylin-eosin (HE) staining from new lesions had developed, and the internal organs other than the skin.7 urticarial lesions taken from the back treatment was continued with the appli- Most of the patients with cutaneous area showed basket weave-type ortho- cation of topical moisturizer twice mastocytosis do not meet all of the cri- keratosis, spongiosis, acanthosis, and daily. However, new blisters reap- teria for systemic mastocytosis, in elongation of rete-ridge in the epider- peared one week later. The patient went which there is a massive infiltration of mis. Infiltration of inflammatory cells, to a GP and received oral prednisone in various organs, including consisting of lymphocytes, a few 2.5 mg per day for one month. Up to the bone marrow and . Although eosinophils, histiocytes, and a large two weeks after the patient stopped tak- internal organ involvement is rare, number of mast cells, was found in the ing oral prednisone, there was no any cutaneous mastocytosis is often accom- upper dermis, perivascular, and sur- sign of relapse. panied by gastrointestinal symptoms rounding the skin appendages. Neither and .7 We did not find any a subepidermal cleft nor any neutrophil sign of internal organ involvement in were seen. Additional staining using Discussion and Conclusions our case. Giemsa and toluidine blue showed a Skinonly biopsy is crucial in diagnosing Cutaneous mastocytosis is a disease large number of mast cells in the der- cutaneous mastocytosis. caused by the release of mast cell medi- mis layer (Figure 2). These findings Histopathological examination of ators and/or mast cell infiltration in the support the diagnosis of cutaneous DCM reveals a large number of mast skin tissue. Physiologically, stem cell mastocytosis. usecell infiltrations in the perivascular, factors (SCF) binding to the Kit recep- DIF examination using IgA, IgM, interstitial, or nodular patterns found in tor in the extracellular area activate IgG, and complement antibodies (C3) the upper papillary and reticular der- mast cells. This binding increases the was done on the patient’s skin tissue mis.9 In our case, histopathological proliferation and extends the lifespan of taken from the same area and revealed examination showed abundant mast cell infiltration, mainly in the upper dermis. Thus, the diagnosis of cuta- neous mastocytosis could be con- firmed. The clinical findings in our patient are consistent with DCM and the histopathologic examination supported the diagnosis. However, we did not per- form bone marrow analysis, KIT muta- tion, and serum to exclude sys- Non-commercial temic involvement of mastocytosis. Theoharides and colleagues suggested that children presenting with skin lesions typical for DCM without any clinical signs of hepatosplenomegaly and lymphadenopathy do not require bone marrow biopsy and evaluation.7 In contrast, mastocytosis in adults is often associated with systemic involvement. Of note, patients with systemic masto- cytosis may not show any skin involve- ment.7,10 Lange and colleagues suggest- ed that serum tryptase evaluation is necessary as a consideration before per- forming bone marrow biopsy in pedi- Figure 3. Immunofluorescent staining showed linear Immunoglobulin A (IgA) deposi- atric mastocytosis cases.11 tion in the basement membrane. At the early onset, we managed our

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patient as LABD due to the similarity and H1 antihistamines, oral disodium Med Assoc J 2005;7:320-2. of skin lesions. Nevertheless, following cromolyn, and 2.Nettleship E. Rare form of urticaria. the blister resolution, urticarial plaques antagonists can be considered as drug Br Med J 1869;2:323–4. developed at the same locations as the choices for severe to moderate pediatric 3.Brockow K. Epidemiology, progno- former lesions. The absence of a cutaneous mastocytosis.15 Oral gluco- sis, and risk factors in mastocytosis. subepidermal cleft with infiltration of corticoid is recommended for diffuse Immunol Clin North Am neutrophilic inflammatory cells and the cutaneous disease refractory to topical 2014;34:283–95. presence of many mast cell infiltrating treatment, but the supporting evidence 4.Méni C, Bruneau J, Georgin- in the histopathology examination is scarce.16 In our case, the symptoms Lavialle S, et al. Paediatric masto- excluded the diagnosis of LABD. improved after the administration of cytosis: a systematic review of 1747 Linear IgA deposition on the base- antihistamines and moisturizer. Oral cases. Br J Dermatol ment membrane is a key finding from corticosteroid given by a GP for one 2015;172:642–51. direct immunofluorescent examination month resulted in a good therapeutic 5.Neri I, Guareschi E, Guerrini V, in LABD.12 Various inflammatory der- response as well. Patrizi A. Familial teleangiectasia matoses, such as dermatitis herpeti- Cutaneous mastocytosis commonly macularis eruptiva perstans. Pediatr formis and Henoch-Schoenlein purpu- occurs in early life and can improve Dermatol 2005;22:488–9. ra, and bullous lupus erythematosus, during puberty. Generally, this disorder 6.Valent P, Akin C, Sperr WR, et al. can also exhibit IgA deposition. Even is benign and has a favorable progno- Mast cell proliferative disorders: though the role of IgA in the subepider- sis.17 Nevertheless, 15-30% of cuta- current view on variants recognized mal blister formation remains unclear, neous mastocytosis in children will per- by the World Health Organization. it is assumed to involve neutrophilic sist in adults and have systemic Hematol Oncol Clin North Am 13 infiltration mediated by IgA. involvement.18 In our patient, improve- 2003;17:1227-41. Interestingly, in our patient, DIF exam- ment occurred after administration of only7.Theoharides TC, Valent P, Akin C. ination revealed linear deposits of IgA antihistamines, but complaints returned Mast Cells, mastocytosis, and relat- on the basement membrane. Whether when the drug was stopped. After ed disorders. N Engl J Med the IgA deposition is caused by the receiving oral from a 2015;373:163–72. inflammatory process in cell mast GP for one month, the skin use lesions 8.Komi DEA, Rambasek T, Wöhrl S. of coincidence with improved and did not recur within two Mastocytosis: from a molecular LABD remains unknown. Slavescu and weeks after discontinuation of oral cor- point of view. Clin Rev Alerg colleagues have reported a case of bul- ticosteroids. Antihistamines act as a Immunol 2017;54:397-411. lous cutaneous mastocytosis accompa- competitive antagonist on 9.Wolff K, Komar M, Petzelbauer P. nied by findings of IgM deposits in the receptors and help the stabilization of Clinical and histopathological 14 basement membrane. Nevertheless, mast cell activity.19 Whereas, corticos- aspects of cutaneous mastocytosis. until now, there is no reported case of teroids can decrease the number of Leuk Res 2001;25:519–28. linear IgA deposition on the basement mast cells in vitro, but they do not have 10. Alvarez-Twose I, Vañó-Galván S, membrane in patients with cutaneous any effect on the release of degranulat- Sánchez-Muñoz L, et al. Increased mastocytosis. ed mast cells products.20 serum baseline tryptase levels and The management of cutaneous mas- In summary, we report a DCM case extensive skin involvement are pre- tocytosis in children is comprised of of an otherwise healthy 1.5-year-old dictors for the severity of mast cell non-pharmacological and pharmaco- boy who was initially managed as activation episodes in children with logical therapies. Non-pharmacological LABD. The diagnosis of DCM was mastocytosis. Allergy management includes avoidingNon-commercial various confirmed by clinical and histopatho- 2012;67:813–21. triggers such as skin friction, exposure logical examinations using HE, 11. Lange M, Zawadzka A, Schrörs S, to high temperatures such as hot baths, Giemsa, and toluidine blue staining. et al. The role of serum tryptase in and vigorous physical activities. Other This case underscores that DCM the diagnosis and monitoring of known precipitating factors include should be admitted as a differential pediatric mastocytosis: a single- fever, teething, diet, vaccinations, and diagnosis of an acquired bullous erup- center experience. Postepy substances that can trigger mast cell tion in infants or children and can pres- Dermatol Alergol 2017;34:306–12. degranulation such as non-steroidal ent with bullous eruptions alongside 12. Haneef NS, Ramachandra S, Metta anti-inflammatory drugs, anticholiner- the linear IgA deposition on the base- AK, Srujana L. Chronic bullous dis- gics, , narcotics, polymyxin B ment membrane that imitates LABD. ease of childhood with IgG predom- sulfate, and alcohol.1 inance: What is the locus standi? Pharmacological management of Indian J Dermatol 2012;57:285–7. pediatric mastocytosis includes topical 13.Zone JJ, Egan CA, Taylor TB, References and systemic therapies. For topical Meyer LJ. IgA autoimmune disor- treatment, corticosteroid cream can be 1.Ben-Amitai D, Metzker A, Cohen ders: development of a passive used along with the local care of skin HA. Pediatric cutaneous mastocyto- transfer mouse model. J Investig with a moisturizer. Treatment with H1 sis : a review of 180 Patients. Isr Dermatology Symp Proc

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2004;9:47–51. 16. Worobec AS. Treatment of systemic Graziano FM. Mechanisms of anti- 14. Slavescu KC, Chiorean R, Danescu, mast cell disorders. Hematol Oncol and mast cell stabilizers S, et al. Diffuse cutaneous bullous Clin North Am 2000;14:659–87. in ocular allergic . mastocytosis with IgM deposits at 17. Klaiber N, Kumar S, Irani AM. dermo–epidermal junction. J Cutan Mastocytosis in children. Curr Curr Drug Targets Inflamm Allergy Pathol 2015;43:263–9. Allery Asthma Rep 2017;17:80. 2002;1:167–80. 15. Cardet JC, Akin C, Lee MJ. 18. Bulat V, Mihić LL, Situm M, et al. 20. Belvisi MG. Regulation of inflam- Mastocytosis: update on pharma- Most common clinical presenta- matory cell function by corticos- cotherapy and future directions. tions of cutaneous mastocytosis. Expert Opin Pharmacother Acta Clin Croat 2009;48:59–64. teroids. Proc Am Thorac Soc 2013;14:2033–45. 19. Cook EB, Stahl JL, Barney NP, 2004;1:207–14.

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