ABSTRACT
Lipofibromatous hamartoma (LFH) is a rare fibrofatty tumor of adipocytes within peripheral nerves, affecting mainly children. It typically presents as a palpable mass surrounding the nerves of the upper limbs, causing pain and neurological deficits in the affected nerve distribution. We report the case of a child with a 2-years presentation of a mass in the right wrist associated with pain and paresthesia, who underwent investigation with magnetic resonance imaging (MRI). It showed thickening of the median nerve with spaghetti-like appearance associated with lipomatous tissue in a coaxial cable-like pattern, both features characteristic of LFH. This case illustrates the importance of MRI in the differential diagnosis of limb masses in the pediatric population.
Subject(s)
Humans , Child , Median Neuropathy/diagnostic imaging , Fibroma/diagnostic imaging , Hamartoma/diagnostic imaging , Median Neuropathy/therapy , Fibroma/therapy , Hamartoma/therapy , Lipoma/therapy , Lipoma/diagnostic imagingABSTRACT
Abstract: Tuberous sclerosis complex is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Due to the wide phenotypic variability, the disease is often not recognized. Tuberous sclerosis complex affects one in 10,000 newborns and most patients are diagnosed during the first 15 months of life. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International Tuberous Sclerosis Complex Consensus Conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumor suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. The treatment of tuberous sclerosis complex consists, mainly, in management of the symptoms caused by hamartomas and in prevention of organ failure. Multidisciplinary approach is recommended, in order to obtain better clinical outcomes.
Subject(s)
Humans , Tuberous Sclerosis/diagnosis , Hamartoma/diagnosis , Tuberous Sclerosis/genetics , Tuberous Sclerosis/therapy , Sirolimus/therapeutic use , Hamartoma/genetics , Hamartoma/therapy , Immunosuppressive Agents/therapeutic use , MutationABSTRACT
El Hamartoma Angiomatoso Ecrino /HAE) es una malformación combinada: vascular y ecrina, benigna, poco frecuente, que se presenta al nacimiento o en la infancia, ubicada generalmente en las extremidades. Es de crecimiento lento, proporcional al crecimiento del niño, generalmente único. Se presenta habitualmente como una placa o nódulo de color rojo, violáceo o color piel. Puede presentar dolor, hipertricosis e hiperhidrosis local, características que lo diferencian de otras malformaciones vasculares. A la histología se observa un aumento de glándulas ecrinas, maduras, en la dermis, acompañadas de acúmulos de vasos sanguíneos (capilares) dilatados. El tratamiento de elección del HAE es la resección quirúrgica. Describimos dos casos de HAE diagnosticados en un periodo de tres años en el Servicio de Dermatología del Hospital Barros Luco-Trudeau.
Subject(s)
Female , Adult , Humans , Hamartoma/pathology , Sweat Gland Neoplasms/pathology , Skin/pathology , Diagnosis, Differential , Eccrine Glands/pathology , Hamartoma/congenital , Hamartoma/diagnosis , Hamartoma/therapy , Sweat Gland Neoplasms/congenital , Sweat Gland Neoplasms/diagnosis , Sweat Gland Neoplasms/therapyABSTRACT
AIMS: Thirty-seven patients with intracranial cavernomas managed in our department are retrospectively analyzed. MATERIALS AND METHODS: The data of 37 patients with cavernoma who were admitted to our department between 1995 and 2003 were reviewed retrospectively. There were 30 male and 7 female patients with a median age of 26 years (range, 9-57 years). Four cases were treated surgically, 13 were treated by stereotactic radiosurgery (SRS) and the remainder were managed conservatively. RESULTS: New hemorrhage or additional neurological deficits were not observed in the surgically treated cases, 12 patients who underwent SRS and the other patients who were followed up. One of the 13 patients treated by SRS, underwent microsurgery due to increased seizure frequency. One of the patients treated surgically died on the 11th postoperative day. CONCLUSION: Clinical observation should be the choice of management for patients without new or progressive neurological deficits, without two or more hemorrhages and in patients where the seizures are controlled with drugs. Surgery is the first choice for the cavernomas located in the non-eloquent locations. Radiosurgery may be an alternative for patients having deep-seated and eloquent area located cavernomas and for patients not willing or suitable for surgery.
Subject(s)
Adolescent , Adult , Brain Diseases/therapy , Child , Fatal Outcome , Female , Hamartoma/therapy , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Multiple Sclerosis/complications , Radiosurgery , Retrospective StudiesABSTRACT
We report a six-month-old male infant with mesenchymal hamartoma of the liver which was left untreated. Repeat CT scan 1 year later showed regression and calcification of the tumor. The child is well 3 years later.
Subject(s)
Hamartoma/therapy , Humans , Infant , Liver Diseases/therapy , MaleABSTRACT
Os autores, constatando ser o nevo comedônico dermatose rara relacionada à malformaçäo do folículo pilossebáceo, relatam um caso em que o comprometimento da regiäo mandibular direita de uma menina feodérmica de sete anos acarretou exuberantes repercussöes psicossociais. Apresentam revisäo dos aspectos mais relevantes dessa insólita entidade nosológica congênita e expöem as razöes da ulterior conduta cirúrgica adotada
Subject(s)
Humans , Female , Child , Epidermis/pathology , Hamartoma/psychology , Mandible , Nevus/etiology , Acne Vulgaris/diagnosis , Administration, Cutaneous , Keratolytic Agents , Darier Disease/diagnosis , Dermabrasion , Diagnosis, Differential , Hamartoma/complications , Hamartoma/surgery , Hamartoma/therapy , Nevus/classificationABSTRACT
Se presenta el caso de un paciente masculino de 8 años de edad con un tumor retiniano, discutiendo el diagnóstico diferencial entre el retinoblastoma y el hamartoma astrocítico de retina, así como el tratamiento con crioterapia.
Subject(s)
Child , Humans , Male , Retinal Diseases/therapy , Retinoblastoma/diagnosis , Orbital Neoplasms/physiopathology , Cryotherapy , Hamartoma/therapyABSTRACT
Presentamos el caso de un lactante menor de 3 meses de edad, con antecedente de infección respiratoria recurrente y con una tumoración sólida localizada en mediastino medio; la cual se vizualizó en la radiografía de tórax posterior (P.A.) Fue sometido a toracotomía exploradora izquierda, encontrándose una tumoración sólida que ocupaba el 50 por ciento del lóbulo superior del pulmón izquierdo . Se realizó resección de los segmentos apical, posterior y anterior sin complicaciones y se logró preservar el segmento lingular. Su evolución postoperatoria ha sido satisfactoria. Este es el primer caso referente a esta patología que se publica en la literatura hondureña.