Publications by authors named "Marimar Saez-De-Ocariz"

Background: Transfusion-associated graft-versus-host disease (TA-GVHD) is a rare, usually fatal complication of blood transfusion.

Objective: To describe the characteristics of TA-GVHD in children.

Methods: The clinical records of pediatric patients diagnosed with TA-GVHD between January 2007 and December 2021 were reviewed.

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  • The study focuses on DOCK8 deficiency (DOCK8-Def), detailing the clinical, immunological, and genetic traits of affected patients.
  • A review of 11 patients revealed that all exhibited eczema and recurrent infections, with common issues including bronchiectasis and food allergies, while some experienced rare complications like tuberculosis and neurological syndromes.
  • The research emphasizes the importance of early diagnosis of DOCK8-Def, as it can lead to better treatment options such as hematopoietic stem cell transplantation (HSCT).
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  • - Ecthyma gangrenosum (EG) is a skin condition mainly caused by Pseudomonas aeruginosa infections in immunocompromised patients, presenting with reddish-purple spots that can progress quickly to severe skin ulcers.
  • - A study analyzed 17 EG patients, revealing that many had underlying conditions like acute lymphoblastic leukemia; most presented with systemic symptoms like fever and pain, and P. aeruginosa was the most commonly isolated bacteria.
  • - The findings suggest that if a patient shows fever and pain with rapidly worsening skin lesions, physicians should suspect EG and start treatment without waiting for lab results.
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Pachydermodactyly (PDD) is an uncommon and benign digital fibromatosis of unknown etiology. It is characterized by a fusiform swelling of the medial and lateral sides of the fingers, with unspecific histopathological features of an increased number of fibroblasts, collagen, and mucin deposit in the dermis. Due to its rarity, PDD could be misdiagnosed as rheumatic arthropathies, which could lead to unnecessary immunosuppressant treatments.

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A 7-year-old girl presented with a 2-year history of recurrent blisters on the skin and oral mucosa. The patient was otherwise healthy, and her family history was unremarkable for any dermatologic or other medical disease. Examination revealed multiple tense vesicles, milia, and atrophic scars present over the extensor surface of the extremities and erosions on the oral mucosa (Figure 1).

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The cutaneous form of Rosai-Dorfman disease is very rare in childhood. The clinical spectrum is highly variable and histopathological study with immunohistochemistry is essential for the diagnosis. We present the case of a 3-year-old boy with the diagnosis of cutaneous Rosai-Dorfman disease and review the pediatric cases published in the literature.

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Atopic dermatitis (AD) is a systemic, multifactorial disease that causes significant morbidity and health care burden in Latin America (LA). Data on AD are scarce in LA. Lack of disease registries and non-standardized study methodologies, coupled with region-specific genetic, immunological, and environmental factors, hamper data collection.

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The human skin harbors a wide variety of microbes that, together with their genetic information and host interactions, form the human skin microbiome. The role of the human microbiome in the development of various diseases has lately gained interest. According to several studies, changes in the cutaneous microbiota are involved in the pathophysiology of several dermatoses.

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The genus is classified into two main groups according to its habitat: gastric and enterohepatic. Patients with X-linked agammaglobulinemia (XLA) appear to be associated with invasive infection with enterohepatic non-Helicobacter pylori species (NHPH), mainly and . Such infections are difficult to control and have a high potential for recurrence.

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Morphea and facial capillary malformations (port-wine stains) are distinct conditions that can affect the pediatric population. Early localized morphea mimicking a capillary malformation is an uncommon clinical presentation. We present two new cases of girls, aged 2 and 3 years, who presented with erythematous patches, initially diagnosed as capillary malformations, which were later diagnosed as morphea.

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Paraneoplastic pemphigus is a rare and severe autoimmune blistering disease characterized by a recalcitrant and severe mucositis, and polymorphic cutaneous lesions, associated with benign and malignant neoplasms. Paraneoplastic pemphigus is caused by production of autoantibodies against various epidermal proteins involved in cell adhesion. Bronchiolitis obliterans (BO) is one of the leading causes of mortality in these patients.

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  • - Menkes disease (MD) is a rare genetic disorder that primarily affects boys, leading to severe neurological issues and high mortality, especially within the first three years of life due to copper distribution problems.
  • - A key characteristic of MD is hair shaft dysplasia, specifically a condition called pili torti, which becomes more visible in the first year of life and can be detected with microscopic examination.
  • - This report highlights a case where trichoscopy (using a dermatoscope) proved to be more effective than traditional light microscopy in identifying the hair shaft defects associated with MD in a Hispanic male infant.
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  • Ivermectin is a safe and effective treatment for several tropical diseases but is not recommended for children under 15 kg, limiting access to necessary care.
  • A systematic review and individual-level patient data meta-analysis were conducted on past studies from 1980 to 2019 to evaluate the drug’s safety in this demographic.
  • Out of 1,088 treated children, only 1.4% experienced mild, self-limiting adverse events, indicating that the risks associated with ivermectin in this group are minimal.
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Background: Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects patients younger than 5 years. In the absence of an available, affordable diagnostic test, detailed clinical history and physical examination are still fundamental to make a diagnosis.

Methods: We present five representative cases with KD-like presentations: systemic onset juvenile idiopathic arthritis, mycoplasma-induced rash and mucositis, staphylococcal scalded skin syndrome, BCGosis, and the recently described multisystemic inflammatory syndrome in children (MIS-C) associated with the severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) virus.

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Introduction: Hypohidrotic ectodermal dysplasia (HED) is a genetic condition typified by alterations in skin structures including sweat glands, hair, nails, and teeth. Hair findings in HED have been poorly characterized in larger series.

Objective: To characterize scalp and hair findings of patients with HED clinically and with trichoscopy and light microscopy.

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Kawasaki disease (KD) is an acute vasculitis of small and medium vessels; whereas systemic lupus erythematosus (SLE) is a chronic systemic autoimmune disease. Their presentation is varied and not always straightforward, leading to misdiagnosis. There have been case reports of lupus onset mimicking KD and KD presenting as lupus-like.

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Background/objectives: Acute graft-versus-host disease (aGVHD) is a serious condition after allogeneic hematopoietic stem cell transplantation (HSCT), frequently involving skin, gut, and liver. It can be difficult to diagnose early, yet this is vital for adequate management. We sought to identify initial clinical and histopathological features in children with suspected GVHD and the association with clinical course and outcomes.

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Background: There are no pathognomonic histopathological features to distinguish acute graft-vs-host disease (aGVHD) from skin drug reactions (SDRs) in pediatric patients with multiple drug regimens that have received blood transfusions and/or transplants. We aimed to determine if the addition of apoptosis markers is helpful to distinguish aGVHD from SDRs in these patients.

Methods: Skin biopsy specimens from patients with a clinical diagnosis of aGVHD or SDRs were evaluated for the presence of apoptotic bodies, satellitosis, interface damage, vasculitis, and inflammatory infiltrate on H&E stain.

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Infantile hemagiomas (IH) are the most common soft tissue tumors in infancy. They are characterized by significant growth during the first months of life, followed by slow spontaneous involution over the ensuring years. The process of involution takes several years, but usually the regression of most of the tumors ends at 4 years of age.

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