Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature.

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. METHODS: A cross-sectional study in 21 pediatric HED patients was performed using available clinical and scalp dermatoscopic images, as well as pulled-hair samples for clinical evaluation, trichoscopic, and light microscopic analyses. RESULTS: Seventeen out of 21 patients (81%) were men. Twenty patients had straight hair. Sixteen patients had decreased hair density, 6 of whom had hair loss mainly in the temporal and occipital regions. Fourteen patients had hair whorls. On trichoscopy, we observed: single-hair follicular units (n = 19, 90%), scalp hyperpigmentation (n = 13, 62%), variable diameter of the hair shafts (n = 12, 57%), perifollicular scales (n = 8, 38%), scalp erythema (n = 8, 38%), and short curly pigtail hairs (n = 6, 29%). On light microscopy, findings included: hair shafts with irregular diameter (n = 7, 33%), heterogeneous hair color (n = 6, 29%), trichoptilosis (n = 2, 10%), and pili torti (n = 1, 5%). CONCLUSIONS: In this series, hair findings in HED were similar to those described in previous studies. However, we describe two new clinical and two trichoscopic findings: decreased hair density mainly in the temporal and occipital regions, oblique upwards occipital hair follicles orientation, angled hairs, and short curly pigtail hairs. These heterogeneous findings may reflect the multiple factors and signaling pathways that can be affected in these syndromes.

Are apoptosis-determining techniques useful to establish an early diagnosis of acute graft-vs-host disease in pediatric patients under treatment with multiple drugs?

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. Information was completed with apoptotic markers (transferase-mediated dUTP nick end-labeling [TUNEL], bcl-2, and caspase-3). RESULTS: The skin biopsy specimens of 32 patients with aGVHD and 11 with SDRs were included for study. Only the number of apoptotic keratinocytes per 10 high-power fields (hpf) showed a significant difference between both groups (P = 0.02); the presence of ≥4 apoptotic keratinocytes per 10 hpf was identified as the optimal cut-off point to discriminate aGVHD from SDRs. No SDRs cases had follicular apoptotic cells. TUNEL, bcl-2, and caspase-3 determination showed no difference between both groups. CONCLUSIONS: The presence of ≥4 apoptotic keratinocytes per 10 hpf (in aGVHD) and the absence of follicular apoptotic cells (in SDRs) might be a useful marker to distinguish between them.

Pulmonary nodules and nodular scleritis in a teenager with superficial granulomatous pyoderma gangrenosum.

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.

Rhabdomyomatous Mesenchymal Hamartoma: A Deep Subcutaneous Lesion in the Sternoclavicular Area.

Cutaneous rhabdomyomatous mesenchymal hamartoma (RMH) is a rare benign tumor composed of two or more types of mesenchymal-derived cells. RMHs are generally sporadic and independent, but they can be associated with congenital abnormalities. We report a subcutaneous case of RMH in the sternoclavicular area with two recurrences after complete surgical excision. The course is variable and can range from spontaneous resolution to repeated recurrences.

Dermoid cysts: a report of 75 pediatric patients.

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 located along the midline. Eight patients had symptoms other than changes in cyst size. Imaging studies were performed on 15 patients. Surgical excision was the primary treatment in all 75 cases. Neurosurgery and ophthalmology services were involved in the care of some patients. Histopathologic studies reported a foreign body giant cell reaction in 17 of the cysts. No recurrence was documented. DCs can remain stable for years, but they can become symptomatic as a result of enlargement and rupture or, more rarely, as a result of extension into surrounding tissues. Physicians should be aware that certain locations have a higher risk of DC extension, and adequate diagnostic investigations should be performed before their complete resection.

Ecthyma gangrenosum in pediatric patients: 10-year experience at the National Institute of Pediatrics.

BACKGROUND: Ecthyma gangrenosum (EG) usually results from the hematogenous seeding of the skin in the setting of bacteremia, mostly by Pseudomonas aeruginosa, especially in immunocompromised patients. It presents as erythematous-violaceous macules, or plaques with surrounding erythema before rapidly progressing to bullae and necrotic-ulcerative eschars. METHODS: We performed a retrospective chart review of EG patients diagnosed at the National Institute of Pediatrics. Data included demographics, underlying disease, cutaneous lesions, location, evolution, microbiologic, histopathologic findings, and treatment. Data were analyzed by descriptive statistics; Mann-Whitney U test and Fisher's exact test were used to evaluate differences between groups. RESULTS: Seventeen patients with a mean age of 12.5 (6-16) years were included. The most common underlying disease was acute lymphoblastic leukemia (59%), three patients were not immunocompromised (17%). A total of 18 episodes of EG were recorded, 10 (55%) were disseminated at presentation. Systemic manifestations included fever (100%), pain (88.9%), asthenia and adynamia (22.2%). P. aeruginosa was isolated in 10 (55%) cases, followed by Staphylococcus aureus in four. Three patients had sepsis at onset (17%). A comparison between localized versus disseminated, pseudomonal versus nonpseudomonal, and bacteremic versus nonbacteremic EG was performed with no statistical difference between any of the groups, except for longer treatment time for pseudomonal EG, and longer hospitalization days for both pseudomonal EG and bacteremia. CONCLUSIONS: Fever and pain in the setting of rapidly evolving necrotic lesions should prompt the clinical suspicion of EG and the installment of empiric treatment pending culture results.

Less common clinical manifestations of atopic dermatitis: prevalence by age.

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. This observational, cross-sectional, comparative study included 131 children younger than 18 of both sexes with AD who attended the clinics of the Dermatology Department of the National Institute of Pediatrics in Mexico City. Patients were examined to determine the presence of infrequent clinical manifestations of AD during infancy, preschool and school age, and adolescence and stratified according to sex, age, and number of clinical signs. A chi-square test was used to detect differences according to age and sex. Logistic regression analysis was also performed. The main findings according to age were genital dermatitis and papular-lichenoid dermatitis variant in infants; atopic feet, prurigo-like, nummular pattern, and erythroderma in preschool and school-aged children; and eyelid eczema and nipple dermatitis in adolescents. The risk of development of nipple dermatitis and eyelid eczema increased with age, and the development of genital dermatitis decreased with age. The knowledge of the prevalence of less common clinical manifestations of AD according to age in different populations might be helpful in diagnosing incipient cases of AD.

The Human Skin Microbiome in Selected Cutaneous Diseases.

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. A better delineation of the human microbiome and its interactions with the innate and adaptive immune systems could lead to a better understanding of these diseases, as well as the opportunity to achieve new therapeutic modalities. The present review centers on the most recent knowledge on skin microbiome and its participation in the pathogenesis of several skin disorders: atopic and seborrheic dermatitis, alopecia areata, psoriasis and acne.

Bronchiolitis Obliterans With Anti-Epiplakin Antibodies in a Boy With Paraneoplastic Pemphigus.

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. Recent advances have associated the presence of anti-epiplakin antibodies with the development of BO in adult patients. Here we describe the first pediatric patient in whom the association of anti-epiplakin antibodies and BO have been reported so far.

Congenital cutaneous angioleiomyoma.

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 angioleiomyoma.

Infantile hemangioma: an update in the topical and systemic treatments.

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. Unfortunately, some of the IH develop complications, resulting in functional impairment, pain and disfigurement. The decision to start treatment and the choice of the best therapeutic option (topic or systemic) should be individualized depending on several factors: the size of the lesion, the location, the presence of complications such as ulceration, the risk of scarring or disfigurement, the age of the patient, the rate of growth or regression at the time of diagnosis, the risks and benefits of the treatment, the availability of the medication, the costs, and the experience of the attending physician.

Los hemagiomas infantiles (HI) son los tumores de tejidos blandos más frecuentes de la infancia. Se caracterizan por un crecimiento significativo durante los primeros meses de vida, seguido de una involución lenta y espontánea a lo largo de un periodo que puede durar algunos años. Usualmente, la regresión de la mayor parte del tumor termina a los 4 años de edad. Sin embargo, algunos de los HI desarrollan complicaciones, lo que resulta en alteraciones funcionales, dolor y desfiguramiento. La decisión de administrar tratamiento a un paciente con HI y elegir la mejor opción terapéutica para ese paciente (tratamiento tópico o sistémico) debe ser individualizada, dependiendo de varios factores: el tamaño de la lesión, la localización, la presencia de complicaciones como ulceración, el riesgo de cicatrización o desfiguramiento, la edad del paciente, la tasa de crecimiento o de involución al momento del diagnóstico, los riesgos y beneficios de administrar el tratamiento, la disponibilidad del medicamento, los costos y la experiencia del médico tratante.

Keratosis lichenoides chronica in pediatric patients: a different disease?

Keratosis lichenoides chronica (KLC) is a rare acquired disease of adulthood, of unknown etiology, characterized by keratotic parallel linear lesions, retiform plaques, and keratotic, often follicular papules, chronicity and lichenoid histopathologic features. KLC of pediatric onset is considered extremely rare. Its features and relationship to adult onset KLC are unknown. We studied 8 cases of pediatric-onset KLC in the literature and 6 personal cases and compared them with 40 reported adult-onset KLC patients. The following features characterize pediatric-onset KLC: familial occurrence; probable autosomal recessive inheritance; early or congenital onset with facial erythemato-purpuric macules; forehead, eyebrow, and eyelash alopecia; pruritus; and a low frequency of other cutaneous and systemic abnormalities. Pediatric-onset KLC may represent a different disease or a subset of adult-onset KLC, with special genetic and clinical characteristics. Determining its precise nosology will have prognostic and therapeutic implications.

Necrotizing fasciitis: report of 39 pediatric cases.

BACKGROUND: Necrotizing fasciitis (NF) is a severe, life-threatening soft tissue infection. General features and risk factors for fatal outcome in children are not well known. OBJECTIVE: To characterize the features of NF in children and the risk factors for fatal outcome. DESIGN: Retrospective, comparative, observational, and longitudinal trial. SETTING: Dermatology department of a tertiary care pediatric hospital. PATIENTS: All patients with clinical and/or histopathological diagnosis of NF seen from January 1, 1971, through December 31, 2000. MAIN OUTCOME VARIABLES: Incidence, age, sex, number and location of lesions, preexisting conditions, initiating factors, clinical and laboratory features, diagnosis at admission, treatment, evolution, sequelae, and risk factors for fatal outcome. RESULTS: We examined 39 patients with NF (0.018% of all hospitalized patients). Twenty-one patients (54%) were boys. Mean age was 4.4 years. Single lesions were seen in 30 (77%) of patients, with 21(54%) in extremities. The most frequent preexisting condition was malnutrition in 14 patients (36%). The most frequent initiating factor was varicella in 13 patients (33%). Diagnosis of NF at admission was made in 11 patients (28%). Bacterial isolations in 24 patients (62%) were polymicrobial in 17 (71%). Pseudomonas aeruginosa was the most frequently isolated bacteria; gram-negative isolates, the most frequently associated bacteria. Complications were present in 33 patients (85%), mortality in 7 (18%), and sequelae in 29 (91%) of 32 surviving patients. The significant risk factor related to a fatal outcome was immunosuppression. CONCLUSIONS: Necrotizing fasciitis in children is frequently misdiagnosed, and several features differ from those of NF in adults. Immunosuppression was the main factor related to death. Early surgical debridement and antibiotics were the most important therapeutic measures.

Medallion-like dermal dendrocyte hamartoma: a new clinically and histopathologically distinct lesion.

Dermal dendrocyte hamartomas are extremely rare; only two examples have been described with clinical features different from our cases and with incomplete immunohistochemical characterization. We report three female patients presenting a medallion-shaped, well-defined, slightly atrophic and asymptomatic congenital lesion. All 3 patients showed a fusiform-cell proliferation. Immunohistochemistry was positive for CD34, factor XIIIa, and fascin. Electron microscopy showed typical features of dermal dendrocytes. We believe that the lesions described represent a new, clinically and histopathologically distinct lesion originating in dermal dendrocytes. We propose to name it medallion-like dermal dendrocyte hamartoma.

Hemangioma infantil: actualización del tratamiento tópico y sistémico / Infantile hemangioma: an update in the topical and systemic treatments

Resumen Los hemagiomas infantiles (HI) son los tumores de tejidos blandos más frecuentes de la infancia. Se caracterizan por un crecimiento significativo durante los primeros meses de vida, seguido de una involución lenta y espontánea a lo largo de un periodo que puede durar algunos años. Usualmente, la regresión de la mayor parte del tumor termina a los 4 años de edad. Sin embargo, algunos de los HI desarrollan complicaciones, lo que resulta en alteraciones funcionales, dolor y desfiguramiento. La decisión de administrar tratamiento a un paciente con HI y elegir la mejor opción terapéutica para ese paciente (tratamiento tópico o sistémico) debe ser individualizada, dependiendo de varios factores: el tamaño de la lesión, la localización, la presencia de complicaciones como ulceración, el riesgo de cicatrización o desfiguramiento, la edad del paciente, la tasa de crecimiento o de involución al momento del diagnóstico, los riesgos y beneficios de administrar el tratamiento, la disponibilidad del medicamento, los costos y la experiencia del médico tratante.

Abstract 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. Unfortunately, some of the IH develop complications, resulting in functional impairment, pain and disfigurement. The decision to start treatment and the choice of the best therapeutic option (topic or systemic) should be individualized depending on several factors: the size of the lesion, the location, the presence of complications such as ulceration, the risk of scarring or disfigurement, the age of the patient, the rate of growth or regression at the time of diagnosis, the risks and benefits of the treatment, the availability of the medication, the costs, and the experience of the attending physician.

Neonatal vesiculopustular eruption associated with transient myeloproliferative disorder: report of four cases.

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 literature also have skin manifestations, described as crusted, erythematous, vesiculopustular eruptions occurring mainly on the face, with spreading to the trunk and extremities. MATERIALS AND METHODS: Four patients with DS and TMD were studied due to the presence of cutaneous eruptions. Systemic involvement, work-up, and follow-up were documented for each patient. Our results were compared with the previously reported cases. RESULTS: All patients were males, with ages ranging from 1 to 20 days at the time of diagnosis. In three patients, the eruption was papulopustular, and two of them also had vesicles. In one patient, lesions resembled bullous impetigo. In all, the lesions involved the face, followed by the extremities in three and the trunk in two patients. Pathergy phenomena was present in one patient. Hepatomegaly and a leukemoid reaction were present in all patients. Bone marrow showed an M7 immunophenotype in three patients and normal cellularity in one. Follow-up ranged from 2 to 11 months, during which the patients were healthy. CONCLUSIONS: Recognition of the cutaneous eruptions associated with TMD in neonate patients with DS may lead to early diagnosis and avoidance of unnecessary chemotherapy. However, because leukemia may develop later, careful follow-up is mandatory in all cases.