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Mucous membrane pemphigoid is a rare autoimmune disease affecting mucosal surfaces. Pediatric cases are exceptionally rare, one subtype being vulvar pemphigoid. Juvenile vulvar pemphigoid can be challenging to diagnose due to its rarity and subtle initial symptoms. We present a case of an 8-year-old girl successfully diagnosed early in the disease course via histopathology, and immunofluorescence. Detecting MMP can be complex due to variations in epitope binding typically not included in commercial ELISA assays, necessitating comprehensive workup. Missed diagnosis may lead to progression to systemic involvement with severe consequences; thus, timely diagnosis and treatment are crucial.
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INTRODUCTION: Mercaptopurine (6MP) and methotrexate (MTX) are commonly used for maintenance chemotherapy for acute lymphoblastic leukemia (ALL). These medications have been associated with various side effects such as myelosuppression, colitis, and thyroiditis in addition to numerous cutaneous adverse events. Cutaneous side-effects most reported include mucositis, alopecia, xerosis, and pruritus. We report an interesting case of hand-foot syndrome to 6MP in a child on maintenance therapy for B-cell ALL from an alteration in medication metabolism. CASE: We report a 10-year-old male on maintenance chemotherapy for pre-Bcell ALL who presented to the hospital with worsening oral lesions and erythematous, fissured plaques on the palms and soles. Maintenance therapy consisted of IV vincristine and 5-day pulse of steroids every 12 weeks, daily 6MP, and weekly MTX, which were increased to ≥ 150% of standard dosing due to persistent absolute neutrophil counts > 1500. Metabolites obtained on admission demonstrated elevated 6MMP metabolites at 35,761 (normal < 5700). TPMT and NUDT15 enzyme activity were normal and no alterations in genotyping were discovered. OUTCOME: Patient's oral chemotherapy, including both 6MP and MTX, were stopped and allopurinol 100â mg daily was initiated, which lead to overall improvement. DISCUSSION: Clinical findings of acute mucositis and worsening of hand-foot syndrome, in the setting of inadequate myelosuppression in a child on maintenance therapy for ALL should raise concerns to consider altered metabolism pathway leading to toxic metabolite buildup. Allopurinol can play in improving cutaneous manifestation and chemotherapeutic dosing in patients with altered metabolism.
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Síndrome Mano-Pie , Mercaptopurina , Metotrexato , Mucositis , Humanos , Masculino , Síndrome Mano-Pie/etiología , Niño , Metotrexato/efectos adversos , Metotrexato/uso terapéutico , Mucositis/inducido químicamente , Mercaptopurina/efectos adversos , Mercaptopurina/uso terapéutico , Mercaptopurina/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Leucemia-Linfoma Linfoblástico de Células Precursoras/tratamiento farmacológico , Vincristina/efectos adversos , Vincristina/uso terapéutico , Antimetabolitos Antineoplásicos/efectos adversosRESUMEN
Dupilumab is an interleukin-4 receptor antagonist important in the treatment of refractory atopic dermatitis (AD), particularly among pediatric patients. Two boys with a history of AD and cardiac transplant who developed psoriasiform dermatitis in response to dupilumab therapy are reported. These patients paradoxically developed an immune-mediated adverse drug reaction despite taking systemic immunosuppressive agents. While the literature suggests possible pathomechanisms for psoriasiform dermatitis despite immunosuppression, further research is necessary to better characterize this unique and unexpected phenomenon.
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Anticuerpos Monoclonales Humanizados , Dermatitis Atópica , Trasplante de Corazón , Humanos , Anticuerpos Monoclonales Humanizados/efectos adversos , Anticuerpos Monoclonales Humanizados/uso terapéutico , Masculino , Dermatitis Atópica/tratamiento farmacológico , Psoriasis/tratamiento farmacológico , Niño , Inmunosupresores/efectos adversos , Inmunosupresores/uso terapéuticoRESUMEN
Purpose of Review: This review highlights recent developments in the field of pediatric allergic contact dermatitis (ACD) and patch testing. We will review updates on the pathophysiology of contact dermatitis, discuss new contact allergens, explore the impact of dupilumab on patch testing, and provide pearls for the diagnosis and management of ACD in children. Recent Findings: ACD is not a single immunologic phenomenon but rather has contributions from multiple inflammatory pathways. Emerging contact allergens include ingredients found in "slime" toys, glucose monitors and insulin pumps, and electronic equipment. Data thus far suggests that patch testing results are generally reliable in the face of concurrent dupilumab use. Summary: ACD is likely underrecognized and underdiagnosed in pediatric patients, including infants and young children. Providers should keep patient-specific factors and emerging trends in mind when addressing suspected ACD, consider contact dermatitis when they encounter challenging cases of atypical, refractory, or chronic dermatitis, and feel comfortable performing patch testing in children.
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Blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare, aggressive hematologic malignancy that can present with multiorgan involvement including the skin. While this entity accounts for 0.1% of all cutaneous lymphomas in adults, fewer than 90 pediatric cases have been described in the literature. We present three cases of pediatric BPDCN, highlighting the variable cutaneous and clinical presentation.
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Neoplasias Hematológicas , Neoplasias Cutáneas , Niño , Células Dendríticas , Humanos , PielRESUMEN
We report a case of a patient with ectodermal dysplasia attributed to a heterozygous 321C>A mutation in WNT10A who developed overlying autoimmune mediated hair loss. To the best of our knowledge this is the first reported case of alopecia areata in a patient with WNT10A heterozygous ectodermal dysplasia. This case highlights the importance of considering multiple pathways of hair loss in patients with underlying genetic defects and raises the possibility of a shared genetic predisposition.
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Alopecia Areata/etiología , Displasia Ectodérmica/complicaciones , Niño , Displasia Ectodérmica/genética , Femenino , Heterocigoto , Humanos , Mutación , Fenotipo , Proteínas Wnt/genéticaAsunto(s)
Eritema Multiforme/tratamiento farmacológico , Etanercept/administración & dosificación , Inmunosupresores/administración & dosificación , Adolescente , Niño , Preescolar , Estudios de Cohortes , Eritema Multiforme/patología , Exantema/tratamiento farmacológico , Exantema/patología , Femenino , Humanos , Masculino , Mycoplasma pneumoniae/aislamiento & purificación , Estudios RetrospectivosAsunto(s)
Leucemia-Linfoma Linfoblástico de Células Precursoras B/diagnóstico , Enfermedades Cutáneas Infecciosas/diagnóstico , Neoplasias Cutáneas/diagnóstico , Adolescente , Diagnóstico Diferencial , Ingle , Humanos , Masculino , Recurrencia Local de Neoplasia/complicaciones , Recurrencia Local de Neoplasia/diagnóstico , Recurrencia Local de Neoplasia/patología , Obesidad/complicaciones , Leucemia-Linfoma Linfoblástico de Células Precursoras B/complicaciones , Leucemia-Linfoma Linfoblástico de Células Precursoras B/patología , Neoplasias Cutáneas/complicaciones , Neoplasias Cutáneas/patologíaRESUMEN
Infantile hemangiomas (IH) are a common benign tumor of infancy, most being uncomplicated and not requiring therapy. Some IH may require treatment; the pediatric provider must be familiar with morphology, distribution, natural history, and associations of IH. Several treatment options are available for IH: current standard of care, oral propranolol. Other therapies include wound care; topical beta-blocker therapy for small, superficial, and uncomplicated IH; treatment of IH residua. In addition to functional compromise and other complications, potential for permanent deformity and eventual psychosocial stigmatization are important when considering the need for treatment of IH in a neonate or infant.