ABSTRACT
Of the patients with epidermal nevi, 10-18% may have disorders of the eye, nervous, and musculoskeletal systems. A predisposition to malignant neoplasms in ectodermal and mesodermal structures may also be found. There are six different epidermal nevus syndromes described so far: Proteus, congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome, phakomatosis pigmentokeratotica, sebaceous nevus, Becker nevus, and nevus comedonicus. Thirty-five patients with epidermal nevus syndrome seen at the National Institute of Pediatrics in Mexico City during a 31-year period are described. This syndrome represented 7.9% of 443 patients with epidermal nevi; its relative frequency was 1 case per 11,928 pediatric patients and 1 case per 1080 dermatologic patients. Nine epidermal nevus syndrome patients (26%) had Proteus syndrome. Sebaceous nevus syndrome was found in six patients (17%), while the nevus comedonicus syndrome was found in three (8%). Two patients were diagnosed with phakomatosis pigmentokeratotica and one patient with congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome. This is the first report of phakomatosis pigmentokeratotica and congenital hemidysplasia with ichthyosiform nevus and limb defect syndrome in Mexican patients. One patient had an inflammatory linear verrucous epidermal nevus with systemic involvement. Thirteen patients (37%) had keratinocytic nevi with systemic involvement. We propose the keratinocytic nevus syndrome to be defined as the association of a keratinocytic nevus with neuronal migration and/or musculoskeletal disorders in addition to a higher risk for mesodermal neoplasms.
Subject(s)
Abnormalities, Multiple/epidemiology , Nevus/epidemiology , Skin Neoplasms/epidemiology , Child , Female , Humans , Longitudinal Studies , Male , Mexico/epidemiology , Prevalence , Retrospective Studies , SyndromeABSTRACT
Dermatitis artefacta is a factitious disorder in which there is deliberate conscious production of skin lesions. There are only a few reports that evaluate instances of dermatitis artefacta in the pediatric population. The aim of this retrospective study was to assess the characteristics of patients with this disorder who were seen at the National Institute of Pediatrics in Mexico City. The records of all patients diagnosed with dermatitis artefacta from January 1980 to December 1999 were analyzed. There were 29 patients (25 females, 4 males). The upper limbs and the face were the most commonly involved areas. Superficial erosions were the most frequent initial event, and residual lesions consisted of scars and crusts. Time taken to diagnosis was on average 10 months. Half of the patients were lost to follow-up. No correlation was found between the length of time from the disease onset to diagnosis, the type of lesions, and the clinical outcome. Twelve patients had an associated systemic disorder. The possible association with chronic disease has not been sufficiently stressed and demonstrates the importance of providing psychological support for these patients. Psychiatric diagnoses were anxiety, depression, and personality disorder. No correlation was found between the psychiatric diagnosis and the outcome of dermatitis artefacta. A young age at presentation, which has been considered important as a favorable prognostic sign, could not be demonstrated in our patients.
Subject(s)
Dermatitis/psychology , Factitious Disorders/psychology , Adolescent , Child , Child, Preschool , Dermatitis/diagnosis , Dermatitis/epidemiology , Dermatitis/therapy , Diagnosis, Differential , Factitious Disorders/diagnosis , Factitious Disorders/epidemiology , Factitious Disorders/therapy , Female , Humans , Infant , Male , Mexico/epidemiology , Retrospective StudiesABSTRACT
Nearly 200 cases of phakomatosis pigmentovascularis (PPV) have been reported worldwide, most of them of Japanese origin. There are 5 types and 10 subtypes of PPV. Its etiology might be explained by the twin spotting phenomenon. The relative frequency of PPV at the National Institute of Pediatrics was 5.8 per 100,000 pediatric patients and 0.634 per 100,000 dermatological patients. We report 24 cases of PPV with an average follow up of 5 years and the following findings: PPV type II A in 4 male and 2 female patients with melanosis bulbi in 3 and glaucoma in 1. PPV type II B in 7 male and 11 female patients, with melanosis bulbi in 9, glaucoma in 9, iris mammillations in 2, Sturge Weber syndrome in 6 female patients, and Klippel-Trenaunay syndrome in 2 males, hemifacial, hemicorporal, or limb hypertrophy without venous insufficiency in 6 female and 4 male patients. During the follow-up time of 60 months, progressive fading of melanotic and vascular macules were observed in 7 patients. No other types of PPV were found. Systemic involvement in PPV was related to the body surface area affected by the vascular macules. Ectodermal and mesodermal migration disorders might be involved in the pathogenesis of PPV.
Subject(s)
Sturge-Weber Syndrome/epidemiology , Sturge-Weber Syndrome/genetics , Child , Child, Preschool , Eye Diseases, Hereditary/complications , Eye Diseases, Hereditary/epidemiology , Female , Glaucoma/complications , Glaucoma/epidemiology , Humans , Incidence , Infant , Infant, Newborn , Male , Medical Records , Mexico/epidemiology , Retrospective Studies , Seizures/complications , Seizures/epidemiology , Sturge-Weber Syndrome/classification , Sturge-Weber Syndrome/complications , Sturge-Weber Syndrome/pathologyABSTRACT
An infant with self-healing, multifocal cutaneous infantile myofibromatosis with leg-length discrepancy as a sequela is reported. This condition should be suspected in infants with one or more firm or hard nodules in the skin, subcutaneous tissue, bone, muscle, or viscera. The histopathologic picture is diagnostic. Treatment and prognosis depend on the extension and location of the tumors.
Subject(s)
Myofibromatosis/complications , Skin Neoplasms/complications , Diagnosis, Differential , Female , Humans , Infant , Leg Length Inequality , Myofibromatosis/diagnosis , Sarcoma/diagnosis , Skin Neoplasms/diagnosisABSTRACT
Due to the presence of two different clones of cells in early embryogenesis, numerous congenital and acquired dermatoses have a linear distribution following the lines of Blaschko. Acquired inflammatory skin diseases are rarely observed in linear patterns. Our patient was born with macrocephaly, left eye glaucoma, and a left facial and contralateral corporal hemihypertrophy, cerebral dysgenesis, and skeletal abnormalities. Hypopigmented S-shaped linear macules on the trunk and linear streaks on the arms and legs were compatible with hypomelanosis of Ito. At 5 years of age the patient presented with an erythematous follicular exanthem compatible with scarlet fever exclusively in the lines of Blaschko. This fact suggests a genetic mosaicism.
Subject(s)
Exanthema/complications , Hypopigmentation/complications , Hypopigmentation/genetics , Mosaicism/genetics , Streptococcal Infections/complications , Streptococcus pyogenes/isolation & purification , Child, Preschool , Exanthema/drug therapy , Exanthema/genetics , Female , Humans , Penicillins/therapeutic use , Skin Physiological Phenomena/genetics , Streptococcal Infections/diagnosis , Streptococcal Infections/drug therapy , Streptococcal Infections/geneticsABSTRACT
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.
Subject(s)
Fasciitis, Necrotizing/diagnosis , Age Factors , Bacterial Infections/diagnosis , Bacterial Infections/etiology , Bacterial Infections/mortality , Bacteriological Techniques , Cause of Death , Child , Child, Preschool , Cross-Sectional Studies , Fasciitis, Necrotizing/etiology , Fasciitis, Necrotizing/mortality , Female , Humans , Incidence , Infant , Infant, Newborn , Male , Pseudomonas aeruginosa/pathogenicity , Risk Factors , Sex Factors , Survival RateABSTRACT
BACKGROUND: Exanthems in children often represent a diagnostic challenge. PURPOSE: To determine the concordance between pediatric and dermatological diagnoses of exanthems. DESIGN: Prospective study. PROCEDURE: Exanthems that appeared in hospitalized pediatric patients were diagnosed by pediatricians. Pediatric dermatologists, by consensus, either confirmed or modified the diagnoses. Whenever possible, laboratory tests were used to confirm the final clinical diagnoses. Age and evolution were compared with the Kruskal-Wallis test; the kappa coefficient was used to determine concordance. SETTING: Institutional tertiary referral pediatric care center. RESULTS: Concordance between pediatric and dermatological diagnoses was found in only 44 patients. When pediatric and dermatological diagnoses of exanthems were classified, the concordance between both diagnoses was very low (kappa = 0.165). CONCLUSIONS: Pediatric specialists, other than dermatologists, failed to diagnose common skin diseases. This may be a consequence of insufficient training in dermatology by medical schools and pediatric residency.
Subject(s)
Dermatology/methods , Exanthema/diagnosis , Pediatrics/methods , Adolescent , Child , Child, Preschool , Humans , Infant , Infant, Newborn , Prospective StudiesABSTRACT
Introducción. Objetivo: identificar las principales manifestaciones mucocutáneas que presentaron los pacientes pediátricos infectados por virus de inmunodeficiencia humana-síndrome de inmunodeficiencia adquirida (VIH-SIDA) atendidos en un hospital pediátrico de la Ciudad de México. Material y métodos. Estudio retrospectivo, en el cual se revisaron los expedientes de los pacientes con diagnóstico de SIDA o VIH positivos en el período comprendido del 1 de enero de 1988 al 31 de diciembre de 1997, atendidos en el Instituto Nacional de Pediatría. Recabándose la siguiente información: sexo, edad, lugar de residencia, forma de adquisición del VIH-SIDA y padecimientos cutáneos durante su evolución.Resultados. Se revisaron los expedientes de 149 pacientes con VIH-SIDA; 76 fueron del sexo masculino y 73 del femenino. La edad promedio fue de 4.4 años con variación de 1 día a 17 años. El 70 por ciento adquirió la infección por vía vertical, 25 por ciento por transfusión y 0.6 por ciento por vía sexual. Se diagnosticaron 251 dermatosis; las manifestaciones mucocutáneas predominantes fueron de origen infeccioso con 192 (77 por ciento) diagnósticos: candidiasis oral en 93 (49 por ciento), dermatitis por pañal con Candida 29 (15 por ciento), infecciones virales en 43 (22 por ciento), infecciones bacterianas en 20 (10 por ciento) e infecciones parasitarias en 3 (2 por ciento). Las manifestaciones cutáneas no infecciosas representaron 59 (23 por ciento) diagnósticos predominando la xerosis, la tricomegalia de pestañas y la dermatitis atópica. Conclusión. Las manifestaciones más frecuentes en pacientes con VIH-SIDA son mucocutáneas. Generalmente se trata de padecimientos comunes con gravedad inusual, presentación atípica, recurrencia y pobre respuesta al tratamiento habitual. Estas características deben alertar al pediatra sobre la posibilidad de VIH-SIDA subyacente.
Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Child, Preschool , Adolescent , Skin Diseases , HIV , Child , Acquired Immunodeficiency Syndrome/physiopathology , Pyoderma , Candidiasis, Oral , Chickenpox , Diaper RashABSTRACT
Introducción. La enfermedad de orina con olor a jarabe de arce (EOJA), fue descrita por primera vez en 1954 por Menkes; se caracteriza por cuadro neurológico progresivo, orina con olor a caramelo y muerte inexplicable. La herencia es autosómica recesiva y la mayor incidencia se observa en población Menonita. El defecto metabólico consiste en deficiencia de descarboxilación oxidativa de los Ó-cetoácidos de cadena ramificada, derivados de los aminoácidos esenciales leucina, isoleucina y valina, que tiene como consecuencia incremento de Ó-cetoácidos en líquidos y células corporales. Casos clínicos. Reportamos tres pacientes con EOJA, de las variedades clásica e intermedia, quienes presentaron manifestaciones cutáneas llamativas en algún momento de su evolución. Conclusiones. La EOJA no produce manifestaciones cutáneas "per se", y se considera que estas son secundarias a déficit carenciales por el tratamiento
Subject(s)
Child , Humans , Male , Maple Syrup Urine Disease/diagnosis , Maple Syrup Urine Disease/physiopathology , Skin ManifestationsABSTRACT
Se informa el caso de porfiria eritropoyética congénita en una niña; las alteraciones se presentaron en piel, dientes y orina; presentó además como problema asociado sordera. En los exámenes realizados hubo aumento de coproporfirinas y uroporfirinas en orina así como la presencia de porfirinas en haces
