RESUMEN
An infant presented to the emergency department with sudden onset of rapidly progressing erythematous macules and distal oedema. The rash was striking in appearance, covering most of the body, which raised concern for pressing infectious (eg, meningococcaemia) and other serious aetiologies. Nevertheless, the infant remained playful and was overall stable and posed a diagnostic and management dilemma. After an extensive workup and multispecialty consultations, the patient was eventually diagnosed with acute haemorrhagic oedema of infancy, a benign leucocytoclastic vasculitis. The patient received no treatment and resolution of the rash occurred within 7 days of onset. Recognition of this condition and its benign nature can spare patients from an extensive workup and reduce anxiety for both family members and healthcare providers.
Asunto(s)
Edema/diagnóstico , Eritema/diagnóstico , Vasculitis Leucocitoclástica Cutánea/diagnóstico , Diagnóstico Diferencial , Femenino , Humanos , Vasculitis por IgA/diagnóstico , Lactante , Infecciones Meningocócicas/diagnósticoAsunto(s)
Lupus Eritematoso Sistémico/diagnóstico , Lupus Eritematoso Sistémico/tratamiento farmacológico , Linfadenopatía/diagnóstico , Convulsiones/diagnóstico , Adolescente , Anticonvulsivantes/uso terapéutico , Biopsia con Aguja , Enfermedad Crónica , Angiografía por Tomografía Computarizada/métodos , Diagnóstico Diferencial , Electroencefalografía/métodos , Servicio de Urgencia en Hospital , Humanos , Inmunohistoquímica , Lupus Eritematoso Sistémico/diagnóstico por imagen , Linfadenopatía/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Masculino , Medición de Riesgo , Convulsiones/diagnóstico por imagenRESUMEN
We report a case of subcorneal hematomas caused by excessive video game play in a 19-year-old man. The hematomas occurred in a setting of thrombocytopenia secondary to induction chemotherapy for acute myeloid leukemia. It was concluded that thrombocytopenia subsequent to prior friction from heavy use of a video game controller allowed for traumatic subcorneal hemorrhage of the hands. Using our case as a springboard, we summarize other reports with video game associated pathologies in the medical literature. Overall, cognizance of the popularity of video games and related pathologies can be an asset for dermatologists who evaluate pediatric patients.
Asunto(s)
Lesiones de la Cornea/etiología , Hematoma/etiología , Leucemia Mieloide Aguda/tratamiento farmacológico , Enfermedades de la Piel/etiología , Trombocitopenia/inducido químicamente , Juegos de Video/efectos adversos , Antineoplásicos/administración & dosificación , Antineoplásicos/efectos adversos , Mano , Humanos , Masculino , Adulto JovenAsunto(s)
Colorantes/efectos adversos , Dermatitis Alérgica por Contacto/etiología , Fenilendiaminas/efectos adversos , Tatuaje/efectos adversos , Adolescente , Colorantes/administración & dosificación , Dermatitis Alérgica por Contacto/diagnóstico , Dermatitis Alérgica por Contacto/patología , Femenino , Mano , Humanos , Fenilendiaminas/administración & dosificación , Prurito/etiologíaRESUMEN
The term Michelin tire baby (MTB), named for the cartoon mascot of the Michelin Tire Company, has been used to describe babies with multiple symmetric circumferential rings of folded skin. In those reported with this phenotype who had skin biopsies, pathology has shown nevus lipomatosis, smooth muscle hamartoma, degenerative collagen, and scarring. Others did not undergo biopsy or had normal skin. Many individuals with the MTB phenotype have had a variety of other congenital anomalies. I review the literature on MTB and the history of the designation Michelin tire baby Syndrome (MTBS). Because the term MTBS has been poorly defined or not defined at all, I propose strict criteria for diagnosis. In doing so, it is recommended that the syndrome be renamed to avoid further confusion.
Asunto(s)
Cutis Laxo/congénito , Hamartoma/diagnóstico , Anomalías Cutáneas/diagnóstico , Terminología como Asunto , Cutis Laxo/diagnóstico , HumanosRESUMEN
We report a patient with generalized smooth muscle hamartoma who presented with many of the variety of congenital anomalies that have been reported in babies with multiple symmetric circumferential rings of folded skin known as Michelin tire baby (MTB) syndrome, but our patient did not show the MTB phenotype. This constellation of findings in the absence of the MTB phenotype has not been previously reported.
Asunto(s)
Hamartoma/diagnóstico , Músculo Liso/patología , Enfermedades Musculares/diagnóstico , Anomalías Múltiples , Cutis Laxo/congénito , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Anomalías CutáneasRESUMEN
Aplasia cutis congenita (ACC), congenital absence of skin, is most common on the scalp but may rarely occur on the trunk and limbs. It is a physical finding that can occur in isolation or as part of a heterogeneous group of syndromes. It can affect localized to widespread areas of absent or atrophic, scarred skin at birth. We report a case of ACC of the distal right forearm associated with radial dysplasia in a newborn boy. According to the Frieden classification of ACC, this case, along with other similar reported cases, highlights the need to adjust the classification scheme commonly used for ACC so that it reflects the associated limb abnormalities with ACC of the extremities. Only five cases describing the association of radial dysplasia with ACC of the arm were found in the literature. Greater awareness of this association may allow for early intervention and better outcomes in children with ACC of the extremities.
Asunto(s)
Displasia Ectodérmica/clasificación , Displasia Ectodérmica/patología , Antebrazo , Radio (Anatomía)/anomalías , Displasia Ectodérmica/terapia , Humanos , Recién Nacido , Masculino , Radiografía , Radio (Anatomía)/diagnóstico por imagen , Cuidados de la Piel/métodosRESUMEN
Myeloid sarcoma is a rare tumor of immature myeloid cells in an extramedullary site. Myeloid sarcoma may present in a variety of locations; skin is one of the common sites. It may precede or occur concurrently with acute myeloid leukemia, chronic myeloid leukemia, other forms of myeloproliferative disorders/myelodysplastic syndrome or de novo. We report a case of a 4-month-old female who presented with cutaneous lesions without evidence of leukemia, determined to be de novo myeloid sarcoma. She had erythematous nodules in multiple skin sites. Biopsy revealed a diffuse atypical mononuclear cell infiltrate involving the entire dermis and extending to the subcutis. The infiltrate was diffusely positive for lysozyme, CD43, CD15, CD33, CD68 and CD117 and was negative for CD3, CD20, CD34, CD56, CD79a, CD99, myeloperoxidase, desmin, chromogranin and synaptophysin, supporting a diagnosis of myeloid sarcoma. No leukemic involvement was found on evaluation of peripheral blood or bone marrow aspiration. Chromosomal abnormalities were found at chromosomes 7, 10 and 11. The skin lesions resolved following multiple chemotherapy courses, then recurred requiring additional treatment. De novo myeloid sarcoma involving skin without evidence of leukemia can occur in an infant and may present a diagnostic challenge.
Asunto(s)
Antígenos CD/biosíntesis , Regulación de la Expresión Génica , Proteínas de Neoplasias/biosíntesis , Sarcoma Mieloide , Neoplasias Cutáneas , Resultado Fatal , Femenino , Humanos , Lactante , Sarcoma Mieloide/metabolismo , Sarcoma Mieloide/patología , Sarcoma Mieloide/terapia , Neoplasias Cutáneas/metabolismo , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/terapiaRESUMEN
We report a 4-year-old boy who presented with multiple pruritic, annular, erythematous plaques on the lower extremities of 1 week's duration. Histopathology of an affected area revealed a dense dermal infiltrate of eosinophils and flame figures without evidence of vasculitis. A diagnosis of eosinophilic cellulitis (EC), or Wells syndrome, was made. The patient had an excellent response to topical and systemic steroids following 1 week of treatment. This case appeared to be idiopathic, as there was no cause identified such as arthropod bites or tinea infection. The patient's EC cleared and has not had a recurrence.
Asunto(s)
Celulitis (Flemón)/diagnóstico , Celulitis (Flemón)/tratamiento farmacológico , Eosinofilia/diagnóstico , Eosinofilia/tratamiento farmacológico , Pierna , Administración Tópica , Corticoesteroides/administración & dosificación , Preescolar , Fármacos Dermatológicos/administración & dosificación , Humanos , Masculino , Pomadas , Resultado del TratamientoRESUMEN
Branchial cleft anomalies are rare developmental defects of the neck, with an estimated 2% to 3% being bilateral. Although most are isolated findings, some are associated with syndromes. We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated in branchio-oculo-facial (BOF) syndrome. Magnetic resonance imaging (MRI) revealed a thyroglossal duct cyst at the base of the tongue. To our knowledge, this is the first reported case of BOF syndrome presenting concomitantly with a thyroglossal duct cyst.
Asunto(s)
Síndrome Branquio Oto Renal/patología , Quiste Tirogloso/patología , Síndrome Branquio Oto Renal/genética , Humanos , Lactante , Imagen por Resonancia Magnética , Masculino , Mutación , Quiste Tirogloso/genética , Lengua , Factor de Transcripción AP-2/genéticaRESUMEN
Circumscribed acral hypokeratosis is a disorder characterized by areas of erythematous depressed skin with distinct histopathological findings typically found on the palmar and plantar surfaces. Most patients are middle-aged women who report a multiyear history. We present an 10-year-old African American boy who had an asymptomatic, irregularly shaped erythematous lesion on his left medial foot that had been present since birth. A biopsy showed an abrupt, well-demarcated decrease in the thickness of the stratum corneum layer, with no parakeratosis, that was consistent with a diagnosis of circumscribed hypokeratosis. This represents the first pediatric and congenital case of circumscribed hypokeratosis reported. We review the literature and discuss the ramifications of a congenital case on understanding the etiology of circumscribed hypokeratosis.
Asunto(s)
Epidermis/patología , Dermatosis del Pie/congénito , Dermatosis del Pie/patología , Queratinocitos/patología , Queratosis/patología , Niño , Humanos , MasculinoRESUMEN
Transient myeloproliferative disorder (TMD) is a hematologic abnormality usually associated with Down syndrome that may present with a skin eruption in addition to typical systemic findings. We report a case of a patient with TMD and a vesiculopustular eruption without the phenotypic characteristics of Down syndrome who was found to have mosaic trisomy 21. Mutations of the globin transcription factor 1 gene, GATA1, are associated with both TMD and acute megakaryocytic leukemia. Transient myeloproliferative disorder typically presents with pancytopenia, hepatosplenomegaly, and immature circulating white blood cells, and affects approximately 10% of neonates with Down syndrome. These abnormalities rapidly regress within the first few months of life. However, 20% to 30% of neonates with Down syndrome and TMD later develop leukemia. The tumor antigen PRAME (preferentially expressed antigen in melanoma) may serve as a marker for leukemic transformation. We report an illustrative case to alert clinicians about this uncommon cause of vesiculopustular eruption in a neonate without the phenotypic characteristics of Down syndrome and review the clinical findings and laboratory studies that aid in accurate diagnosis.
Asunto(s)
Trastornos Mieloproliferativos/complicaciones , Enfermedades Cutáneas Vesiculoampollosas/etiología , Femenino , Humanos , Recién Nacido , Trastornos Mieloproliferativos/genética , Enfermedades Cutáneas Vesiculoampollosas/patologíaRESUMEN
We report here a case of bilateral trichomegaly associated with alopecia areata in a 3-year-old girl, healthy except for mild atopic dermatitis. Trichomegaly is a rare condition and, in many cases, is a side effect of medication such as ophthalmic solution prostaglandin analogs and epidermal growth factor receptor inhibitors. Trichomegaly has also been associated with acquired medical conditions such as HIV, systemic lupus erythematosus, anorexia nervosa, porphyria cutanea tarda, hypothyroidism, and dermatomyositis. In very rare circumstances, trichomegaly has been described as part of congenital conditions such as Oliver-McFarlane syndrome. We believe that the development of bilateral trichomegaly in conjunction with alopecia areata in this patient represents a novel finding as it occurred in the absence of any significant health problems, congenital abnormalities, or medications.