Marimar Saez-de-Ocariz

Marimar Saez-de-Ocariz
Instituto Nacional de Pediatría | INP · Department of Dermatology

About

109
Publications
30,730
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937
Citations
Citations since 2017
47 Research Items
485 Citations
2017201820192020202120222023020406080100120
2017201820192020202120222023020406080100120
2017201820192020202120222023020406080100120
2017201820192020202120222023020406080100120
Introduction

Publications

Publications (109)
Article
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 an...
Article
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Alopecia areata (AA) represents an underrecognized burden in Latin America (LA), severely impacting quality of life (QoL). This impact is exacerbated by limited access to specialized dermatologic care and therapies for AA within and among nations. Many of the unmet needs for AA globally also exist in LA. The region has geographic, ethnic, cultural,...
Article
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...
Article
Background: 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 collec...
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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 pathophysiolo...
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The genus Helicobacter 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 H. cinaedi and H. bilis. Such infections are difficult to control and have a...
Article
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. Bronchio...
Article
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 capill...
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Menkes disease (MD) is a rare X-linked recessive neurodegenerative disorder caused by mutations in the ATP7A gene, with a high mortality rate within the first 3 years of life. It typically affects males and is characterized by impaired copper distribution and malfunction of several copper-dependent enzymes. Patients develop progressive muscle hypot...
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Background Oral ivermectin is a safe broad spectrum anthelminthic used for treating several neglected tropical diseases (NTDs). Currently, ivermectin use is contraindicated in children weighing less than 15 kg, restricting access to this drug for the treatment of NTDs. Here we provide an updated systematic review of the literature and we conducted...
Preprint
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We present the case of a male infant diagnosed with IPEX (immune dysregulation, polyendocrinopathy, enteropathy, and X-linked) syndrome who presented a generalized rash with a BCG site reaction several months after vaccination. In our patient this dermatological manifestation might be secondary to immune dysregulation, given the important role of T...
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I Generalidades La piel funciona como barrera entre el cuerpo y el medio ambiente al prevenir la pérdida de líquidos y electrolitos, regular la temperatura corporal y proteger contra infecciones y diversos estímulos mecánicos, térmicos, y ambientales. Además, es esencial para el sentido del tacto y la síntesis de vitamina D.1-4En el niño la piel es...
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Background Kawasaki disease (KD) is an acute systemic vasculitis that predominantly affects patients younger than five 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 presentation...
Article
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La dermatitis atópica es la enfermedad cutánea inflamatoria más común, afecta principalmente a los niños (prevalencia de 20%) y suele iniciarse antes de los 5 años (90%).1 El curso clínico es crónico y genera recidiva; dos tercios de los pacientes se controlan en la etapa adulta.2 La fisiopatología resulta de la interacción de factores genéticos, i...
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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...
Preprint
Full-text available
Background: Degos-like disease has been associated with several rheumatologic conditions such as systemic lupus erythematosus, antiphospholipid syndrome, systemic sclerosis and rheumatoid arthritis. Case presentation: Seven-year-old girl with low weight, height and body mass index who presented with swollen eyelids with ptosis, suggestive cutaneous...
Preprint
Full-text available
Background Oral ivermectin is a safe broad spectrum anthelminthic used for treating several neglected tropical diseases (NTDs). Currently, ivermectin use is contraindicated in children weighing less than 15 kg, restricting access to this drug for the treatment of NTDs. Here we provide an updated systematic review of the literature and we conducted...
Article
Griscelli syndrome type 2 (GS2) features silvery‐grey hair, bronzed skin and immunodeficiency.1 The only curative treatment for GS2 is haematopoietic stem cell transplantation (HSCT) which corrects the immune and haematologic defects with persistence of oculocutaneous abnormalities.
Article
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Rationale: 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. Coex...
Article
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 ch...
Article
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 f...
Article
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Rosacea is a chronic relapsing inflammatory skin and ocular disease, with typical onset between the ages of 30 and 60 years, and several associated comorbidities (1, 2). It has been linked to the dysregulation of the innate and adaptive immune responses(3). To date, a genetic cause for early‐onset rosacea has only been described in two unrelated fa...
Article
Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defective phagocytic NADPH oxidase, causing a complete lack or significant decrease in the production of microbicidal reactive oxygen metabolites. It mainly affects male children; however, there are scarce reports of adult females diagnosed with X-linked-CGD attributed to a...
Article
Background: Autoinflammation and phospholipase Cγ2-associated antibody deficiency and immune dysregulation (APLAID) is an exceedingly rare monogenic autoinflammatory disease. To date, only five cases have been reported with four distinct pathogenic mutations. Objectives: We present a novel case of APLAID, corroborated by molecular analysis, with...
Article
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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. Unfortunat...
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BACKGROUND: Morphea is an inflammatory disease with diffuse thickening and hardening of the skin. It is common in children and it has been reported that as many as 40% have extracutaneous articular and neurological manifestations, vascular and ocular disorders, and gastrointestinal or respiratory symptoms.RATIONALE: There are no studies of associat...
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El acné juvenil o acné vulgar es una enfermedad inflamatoria crónica que afecta a la unidad pilosebácea. La producción de sebo por las glándulas sebáceas, secundaria al estímulo hormonal, condiciona un proceso obstructivo del conducto pilosebáceo por retención de sebo y células anormales seguido de un proceso inflamatorio. Generalmente es de inicio...
Article
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El uso prolongado de esteroides tópicos en niños se puede asociar con efectos adversos locales y sistémicos. Se presenta el caso de una paciente de seis meses de edad con síndrome de Cushing iatrogénico y sarna costrosa tras el uso de betametasona al 0.05% en el área del pañal. La sarna costrosa es una variedad de escabiosis que tiene la particular...
Article
BACKGROUND: Congenital melanocytic nevi (CMN) are nevomelanocyticproliferations presents at birth. On the basis of their size theyare small (< 1.5 cm), medium (1.5 to 19.5 cm) and giant (> 20 cm).Giant congenital melanocytic nevi (GCMN) are associated withneurocutaneous melanosis, melanoma and psychosocial alterations.OBJECTIVE: To determine the as...
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Prolonged use of topical corticosteroids in children may be associated with both local and systemic adverse effects. We report a case of a 6-month-old female who developed Cushing's syndrome and crusted scabies due to misuse of betamethasone in the diaper area for three months. Crusted scabies is a form of scabies that has the particularity of bein...
Article
We report a case of primary osteoma cutis associated with Albright's hereditary osteodystrophy in an 8-years 5-month-old boy. Primary osteoma cutis is a frequent early clinical manifestation and may be the presenting sign of genetic disorders that, besides other manifestations, present as a regular feature cutaneous ossification. Dermatologists sho...
Article
Morphoea, also known as localized scleroderma, is a disorder characterized by excessive collagen deposition leading to thickening of the dermis and/or subcutaneous tissues. Intravenous IgG therapy has induced improvement in some fibrotic conditions. The primary indication for subcutaneous IgG (SCIG) is in primary immunodeficiency disorders as repla...
Article
Superficial granulomatous pyoderma gangrenosum, a rare variant of pyoderma gangrenosum, has been considered to be the most benign form of the disease. We present the case of a 15-year-old boy with pulmonary involvement and nodular scleritis associated with this unusual type of pyoderma gangrenosum and discuss its differential diagnosis.
Article
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La dermatitis irritativa por pañal (DPi) es una enfermedad de etiología multifactorial, caracterizada por inflamación en el área cubierta por el pañal. Constituye la principal causa de consulta en lactantes y preescolares, con una prevalencia que oscila entre 40 y 50% de los pacientes en estos grupos de edad, y un pico máximo de presentación entre...
Article
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El cruzar en nuestra existencia con un ser humano como el Dr. Ramón Ruiz Maldonado, hombre culto, sensato, ingenioso y maestro en toda la extensión de la palabra, ilumina y deja huella. Cuando llega el momento de su partida, por una enfermedad prolongada que minó su cuerpo y terminó por encarcelar su mente, la sensación de vacío y nostalgia es inev...
Article
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Langerhans cell histiocitosis is a neoplasm of myeloid origin characterized by a clonal proliferation of cd1a+/cd207+ cells. This proliferation and accumulation may present in any organ; therefore, the disease varies in clinical presentation, ranging from localized involvement to a widely-disseminated life-threating disease. Since cutaneous manifes...
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INTRODUCCIÓN: una meta a alcanzar en los niños que usan pañal es mantener una piel intacta dentro del área cubierta por éste y así evitar la dermatitis por pañal. OBJETIVO: comparar la eficacia de dos tipos de pañal para prevenir o tratar la dermatitis por pañal. MATERIALES Y MÉTODOS: ensayo clínico aleatorizado en lactantes de 6 a 12 meses de ed...
Article
Epidermolysis bullosa (eb) is the term used to define a group of genetic diseases characterized by mechanic fragility of the skin. It is caused by a variety of mutations in several genes that codify for dermal-epidermal junction proteins, which leads to formation of blisters and skin and mucosal erosions, as well as multiple other systemic alterati...
Article
World Health Organization defines child abuse as the abuses and negligence in childhood and adolescence, more frequently in children younger than three years old. Near 90% of the children that suffer physical abuse have cutaneous manifestations. The dermatologist is the most trained in diagnosis and he can differentiate similar skin conditions. The...
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Se ha demostrado que la educación terapéutica contribuye eficazmente a prevenir complicaciones y a mejorar el cumplimiento del tratamiento, que aumenta la calidad de vida en numerosas enfermedades crónicas.
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Los exantemas de la infancia son erupciones cutáneas localizadas o generalizadas que pueden ser causados por virus, bacterias, medicamentos o estar asociados con enfermedades sistémicas. La mayoría de los exantemas en la infancia son diagnosticados y tratados por el médico de atención primaria y por el pediatra, por lo que es deseable que ambos est...
Article
Childhood exanthems are cutaneous eruptions localized or generalized that can be caused by virus, bacteria, drugs, or be associated to systemic diseases. Most exanthems are initially diagnosed and treated by pediatricians, therefore it's important that they know these diseases in both, classic and atypical forms.
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Se denomina fotoprotección al conjunto de medidas que se pueden instaurar con el fin de proteger a la piel de la agresión producida por la exposición a los rayos solares. Incluye medidas físicas de evitación y el uso de fotoprotectores con el objetivo de prevenir posibles daños de la radiación ultravioleta en la piel.1
Chapter
Cutaneous lupus erythematosus may present with acute, subacute, and chronic lesions. It affects all races, but children of color are at greater risk of developing cutaneous lupus. Acute cutaneous lupus erythematosus may produce mid-facial or disseminated lesions and is a common feature of systemic lupus erythematosus (SLE). Subacute cutaneous lupus...
Chapter
Acquired diffuse hyperpigmentation in children secondary to metabolic disorders can be divided into nutritional diseases, endocrinological disorders, and metabolic causes. Although pigmentation is categorized as diffuse, it is often accentuated in some areas. Adequate approach of diffuse hyperpigmentation may lead to the early diagnosis of a specif...
Article
Background: There is increasing concern to determine if the regular use of sunscreens results in vitamin D deficiency. Information provided by basic studies and clinical trials is controversial. Objective: To determine if the use of sunscreens decreases the serum levels of vitamin D. Material and method: A systematic review was done which included...
Article
Topical corticosteroids are the most frequently used drugs in dermatology. Their success depends on the adequate evaluation of the patient, on an accurate clinical diagnosis, the site of the skin and the special response of the dermatoses. Topical corticosteroids are classified by their strength, the same molecule will have different strengh depend...
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Eczema herpeticum is an acute dermatosis, caused by the cutaneous dissemination of herpes simplex virus in patients with atopic dermatitis and other skin diseases. It constitutes a dermatologic emergency and a potential life-threatening complication in these patients. Clinically, patients present with a disseminated vesicular eruption which progres...
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Antecedentes: la pitiriasis rosada es un exantema agudo diseminado de etiología desconocida y duración prolongada. Se caracteriza por placas eritematosas con un collarete de escama periférica. Aunque el cuadro clínico es aparatoso para el paciente y el familiar, la pitiriasis rosada es involutiva y generalmente remite sin secuelas. Frecuentemente e...
Article
Background: Pityriasis rosea is an acute disseminated rash of unknown etiology and prolonged duration, characterized by erythematoussquamous plaques. Despite having an ostentatious clinical picture for both the patient and family, it is self-limited and usually resolves without sequelae. Pityriasis rosea is often erroneously diagnosed as mycosis an...
Article
Trisomy 13, or Patau syndrome, is a chromosomal disorder that can occur in complete, partial, or mosaic forms. Mosaicism is observed in 6% of individuals with trisomy 13 and, in contrast to the complete form, has wide phenotypic variability, longer survival, and in some patients an unusual skin pigmentary pattern similar to phylloid hypomelanosis....
Article
Background: Dystrophic calcinosis is associated with juvenile dermatomyositis and systemic sclerosis. Clinical diagnosis is performed through the detection of subcutaneous, hard nodules. Conventional radiographic studies may demonstrate calcium deposits, however, with very early lesions X-rays may prove insufficient. There are a few studies where s...
Article
Background: Infantile hemangioma is the most frequent vascular tumor in childhood, affecting 3% to 10% of infants. It is more common in girls, preterm or low-weight for birth neonates, and neonates of mothers with multiple pregnancies, placental abnormalities or history of pre-eclampsia. Clinical features of infantile hemangiomas depend on the phas...
Article
Olmsted syndrome, first described in 1927, is a diffuse palmoplantar keratoderma associated with other abnormalities. This condition starts with periorificial erythema followed by progressive perioral hyperkeratosis running in parallel with palmo-plantar keratoderma. To date there is no cure, but oral retinoids may improve general care and quality...
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Hydroa vacciniforme-like lymphoma (HVLL) is an Epstein-Barr virus (EBV)-positive T-cell lymphoproliferative disorder of childhood that occurs mainly in Central and South America and Asia. We present the clinicopathological features of 20 Mexican children with HVLL with a median age of 8 years at diagnosis (range, 1-15). All patients presented with...
Article
A 33 year-old woman presented with numerous 3- to 5-mm red-brown and yellow-brown dome-shaped nodules, primarily located on the scalp, dorsal aspects of the forearms, and lower extremities (Figure 1 and Figure 2). Her lesions started to appear 5 years prior to her consultation with increasing number and without spontaneous regression. Findings from...
Article
Dermoid cysts (DCs) are benign cutaneous tumors that tend to persist and grow. The aim of this study was to examine the clinicopathologic features of congenital DCs. We present a case series of 75 children with a clinicopathologic diagnosis of DC. Seventy-two cysts were located on the head, one on the neck, and two on the trunk. Six cysts were loca...
Article
Background: Transient myeloproliferative disorder (TMD) affects up to 10% of patients with Down syndrome (DS). A small proportion of newborns are asymptomatic and only manifest circulating blast cells, with or without leukocytosis, while others present with hepatomegaly, splenomegaly, serous effusions, and liver fibrosis. Few cases in the literatu...
Article
The common manifestations of atopic dermatitis (AD) appear sequentially with involvement of the cheeks in infancy, flexural extremities in childhood, and hands in adulthood. Although less common clinical manifestations are well described, they have not been the subject of epidemiologic studies to describe their prevalence in specific age groups. Th...
Article
This paper reports the case of a 15 months-old female with a giant juvenile xanthogranuloma on the scalp. The lesion was solitary with no extracutaneous involvement. This report highlights the spontaneous regression of giant juvenile xanthogranulomas leaving minimal sequelae. Therapeutic intervention such as surgical management is rarely required.
Article
Congenital cutaneous angioleiomyoma is an extremely rare benign smooth muscle tumor. We present a case of a firm, painful subcutaneous mass noticed at birth on the left leg that on surgical excision proved to be an angioleiomyoma. Prognosis is good, and recurrences are uncommon. To our knowledge, this is the second report of a congenital angioleiom...
Article
Full-text available
Rarely, systemic lupus erythematosus (SLE) presents with bullous lesions due to severe edema and hydropic degeneration of the basal layer, or as a subepidermal blistering disease. Here, we describe two Mexican teenagers, one with SLE with blisters and another with bullous SLE. We also discuss the mechanisms and clinical implications of lesion forma...
Chapter
Normal pigmentation is a complex biological process and in the human, at least 127 different genes have been identified (Bennett and Lamoreaux 2003). Colour loci are the genetic loci in which mutations can affect pigmentation of the hair, skin, and/or eyes.
Chapter
Phakomatosis pigmentovascularis (PPV) is defined as the coexistence of a widespread vascular (usually capillary) nevus (nevus flammeus) and an extensive pigmentary nevus (usually of the Mongolian spot type or blue/slate/grey oculo-cutaneous melanocytosis) associated to a variety of other cutaneous nevus (e.g., anaemicus, epidermal nevus, telangiect...
Article
There are two types of tyrosinemia: tyrosinemia type 1 due to fumarylacetoacetase deficiency which is a hepatorenal form without skin abnormalities, and tyrosinemia type II or Richner—Hanhart Syndrome due to hepatic cytosolic aminotransferase deficiency, which is the oculocutaneous form of the disease we will discuss in this chapter.
Article
Lipofibromatous hamartoma of nerve (LFHN) is a very uncommon benign lipomatous tumor with specific clinicopathological characteristics which may present with or without macrodactyly. This tumor-like lesion is composed of fibrous and fatty tissues arising from the epi- and perineurium that surrounds and infiltrates the major nerves and their branche...
Chapter
Keratitis-ichthyosis-deafness (KID) syndrome is a genetically determined disorder of keratinization, a congenital ichthyosiform dermatosis with additional extracutaneous features (keratitis and deafness). Because of the association of ichthyosis or ichthyosiform dermatosis with central and/or peripheral nervous system involvement, KID syndrome has...