Basaloid follicular hamartoma associated with follicular mucinosis and inflammation

Abstract Basaloid follicular hamartoma is a benign, superficial malformation of hair follicles that can be mistaken both clinical and histopathologically for basal cell carcinoma. Basaloid follicular hamartoma has been linked to a mutation in the PTCH-1 gene, which is part of the same pathway involved in Gorlin-Goltz syndrome. Here we present a 9-year-old patient with an asymptomatic congenital lesion on the forehead, which increased in size over the years. Histopathology showed a basaloid follicular hamartoma associated with follicular mucinosis and inflammation. Gorlin-Goltz syndrome was ruled out by clinical examination.

Obstrucción colónica por pólipo hamartomatoso en una paciente pediátrica con esclerosis tuberosa / Bowel obstruction by hamartomatous polyp in a pediatric patient with tuberous sclerosis

La esclerosis tuberosa es una enfermedad autosómica dominante con gran variabilidad de expresión clínica. Se caracteriza por la presencia de tumores benignos en distintos órganos debidos a un desorden en la proliferación y diferenciación celular. Afecta, especialmente, la piel, el sistema nervioso central, el corazón y el riñón. El compromiso intestinal es infrecuente; afecta a adultos y compromete el colon sigmoide y el recto. En niños, hay solo dos casos descritos en la literatura; nuestra paciente sería el tercero. Presentamos a una paciente con esclerosis tuberosa, que comenzó, desde el mes de vida, con cuadros reiterados de suboclusión intestinal. La videocolonoscopía mostró una formación mamelonada que protruía hacia la luz del colon ascendente. Se realizó una hemicolectomía derecha. El informe anatomopatológico correspondió a un pólipo hamartomatoso. La evolución clínica y nutricional en el posquirúrgico fue muy favorable. Aunque poco frecuente, el pólipo hamartomatoso debe considerarse en el diagnóstico diferencial de oclusión intestinal en pediatría.

Tuberous sclerosis is an autosomal dominant disorder with a wide clinical spectrum of disease. It is characterized by development of benign tumors in multiple organs due to a disturbance in cellular growth and differentiation. It usually affects skin, brain, heart and kidney. Gastrointestinal involvement is rare and mainly restricted to adults and sigmoid colon and rectum. In children there are only two cases; our patient would be the third. We present a patient with tuberous sclerosis who began at the first month of life with repeated intestinal subocclusion. The videocolonoscopy showed a mass protruding into the lumen of the ascending colon. Right hemicolectomy was performed. The anatomopathological report corresponded to a hamartomatous polyp. The clinical and nutritional evolution in the postoperative period was very favorable. Although uncommon, the hamartomatous polyp should be considered in the differential diagnosis of intestinal occlusion in pediatrics.

Large Brunner's gland hamartoma with annular stricture causing gastric outlet obstruction

No abstract available.

Síndrome de nevo de Becker con características ictiosiformes / Becker's nevus syndrome with ichthyosiformes features

El nevo de Becker, es un hamartoma cutáneo benigno de etiología desconocida, que se presenta como una mácula hiperpigmentada de bordes geográficos. Por lo general, se ubica en la región torácica superior y su compromiso tiende a ser unilateral. Ocasionalmente el nevo de Becker se asocia a anomalías en el tejido óseo, muscular o cutáneo, siendo la ictiosis una característica muy infrecuente. La presencia de alguna de estas anomalías asociadas a un Nevo de Becker determina el síndrome del Nevo de Becker. Paciente de sexo masculino de 18 años, que consultó por un cuadro iniciado en la infancia, caracterizado por la aparición de manchas cafés, escamosas, pruriginosas que inicialmente se ubicaron en las extremidades inferiores y con el tiempo fueron apareciendo en tronco, región lumbar y glútea. Mediante la correlación clínico-patológica se llegó al diagnóstico de Nevo de Becker, con características ictiosiformes. Se realizaron estudios complementarios con ecocardiograma Doppler y radiografía de tórax, que resultaron normales y una ecotomografía Doppler color de tórax anterior que mostró una leve ginecomastia bilateral con discreto aumento del botón mamario derecho y una leve hipoplasia del pectoral mayor derecho diagnosticándose Síndrome de Nevo de Becker. La mayoría de los reportes de Síndrome de nevo de Becker describen anomalías como escoliosis o hipoplasia unilateral de la mama, con escasos reportes sobre ictiosis. Se reporta este caso por su presentación atípica con múltiples nevos de Becker, compromiso de hemicuerpo inferior y su asociación ictiosiforme poco descrita en la literatura.

Becker's nevus is a benign cutaneous hamartoma of unknown etiology; it appears as a hyperpigmented macula with geographical borders. Usually it is located in the upper thoracic region, unilaterally. Occasionally Becker nevus is associated with abnormalities in the bony, muscle or skin tissue, being ichthyosis an unusual feature. The presence of some of these anomalies associated with Becker´s nevus determine the Becker´s nevus syndrome. Male patient of 18 years old who had a clinical history that begun in childhood, characterized by the appearance of brown, scaly, itchy patch that initially were located in the lower extremities and eventually were appearing in the trunk, lumbar and gluteal area. The clinical-pathological correlation led us to the diagnosis of Becker´s nevus with ichthyosiform features. Additional studies were performed such as Doppler echocardiography and chest radiograph, both normal. Color Doppler ultrasonography of anterior chest showed a slight bilateral gynecomastia with discrete increase of the right breast and a slight hypoplasia of the right major pectoral, determining a Becker´s nevus syndrome. Most reports of Becker´s nevus syndrome described abnormalities such as scoliosis or unilateral breast hypoplasia, few cases have been reported with ichthyosis. This case is reported for its atypical presentation with multiple Becker´s nevus, compromise of the lower body and its ichthyosiform association, rarely described in the literature.

Hamartomas hipotalámicos: distintas formas de debut. Casos clínicos / Hypothalamyc hamartomas: different ways of clinical debut. Cases report

Los hamartomas hipotalámicos son malformaciones no neoplásicas de sustancia gris compuestas por neuronas hiperplásicas. Suelen ser lesiones pequenas localizadas en la base del cerebro, en el piso del tercer ventrículo y, generalmente, asintomáticas. Sin embargo, pueden ocurrir con alteraciones conductuales-cognitivas, crisis epilépticas y/o signos de pubertad precoz central en función de la localización en la que se encuentren. Se presentan dos pacientes de 2 años 8 meses y 7 años, con presencia de hamartomas hipotalámicos diagnosticados tras el estudio de pubertad precoz central. La paciente de menor edad presenta, además, crisis gelásticas, típicamente asociadas a hamartomas hipotalámicos. Tras los hallazgos clínicos y radiológicos, se trataron con análogos de gonadotropinas, y se observó una regresión de los signos puberales y una no progresión del tamano de los hamartomas.

Hypothalamic hamartomas are benign tumors of gray substance composed by hyperplasic neurons. They are usually asymptomatic small masses with extensions into the third ventricular cavity. In some instances they can cause cognitive behavioral alterations, seizures and/or central precocious puberty depending on the location. Here we present two cases of central precocious puberty due to hypothalamic hamartomas at 2(8/12) and 7 years of age. The younger patient also presents gelastic seizures, typically associated with hypothalamic hamartomas. After the clinical and radiological findings, they started treatment with GnRH analogues and a regression of the puberty signs without progression in the hamartomas size was observed.

A rare case of perineal hamartoma associated with cryptorchidism and imperforate anus: case report / Caso raro de hamartoma perineal associado a criptorquidia e ânus imperfurado: relato de caso

A full-term male neonate with anorectal anomaly and external perineal anomalies was referred to our service. Physical examination showed an epithelized perineal mass with cutaneous orifices, which had urine fistulization, hipotrofic perineal musculature, bilateral congenital clubfoot, hipospadic urethra, criptorquidy bilateral with nonpalpable testis and imperforate anus. A colostomy was constructed immediately after birth. The child underwent excision of perineal mass, bilateral orchidopexy, Duplay neourethroplasty and coloanal anastomosis at 3 months of age. The histopathological examination of the perineal mass revealed a hamartoma.

Recém-nascido a termo do sexo masculino encaminhado ao nosso serviço por anomalia anorretal e anomalias perineais externas. O exame físico revelou massa perineal epitelizada, com orifícios cutâneos que apresentavam saída de urina, musculatura perineal hipotrófica, pé torto congênito bilateral, uretra hipospádica, criptorquidia bilateral com testículos não palpáveis e ânus imperfurado. Logo após o nascimento, o paciente foi submetido à colostomia. Aos 3 meses de idade, a criança foi submetida à excisão da massa perineal, orquidopexia bilateral, neouretroplastia a Duplay e anastomose coloanal. A análise anatomopatológica da massa perineal indicou hamartoma.

Avanços na etiologia, no diagnóstico e no tratamento da puberdade precoce central / Advances in the etiology, diagnosis and treatment of central precocious puberty

O início da puberdade caracteriza-se pelo aumento de amplitude e frequência dos pulsos do hormônio secretor de gonadotrofinas (GnRH) após um período de relativa supressão hormonal durante a infância. A reemergência da secreção pulsátil do GnRH resulta em aumento na secreção de gonadotrofinas, hormônio luteinizante (LH) e folículo estimulante (FSH), pela hipófise anterior e consequente ativação gonadal. A ativação prematura do eixo hipotálamo-hipófise-gonadal resulta em puberdade precoce dependente de gonadotrofinas, também conhecida como puberdade precoce central (PPC), e se caracteriza pelo desenvolvimento dos caracteres sexuais secundários antes dos 8 anos nas meninas e 9 anos nos meninos. O início do desenvolvimento puberal provém da interação complexa de fatores genéticos, nutricionais, ambientais e socioeconômicos. O diagnóstico clínico da PPC baseia-se em reconhecimento de desenvolvimento puberal progressivo, concentrações púberes de LH em condição basal e/ou após estímulo com GnRH e avanço de idade óssea. A ressonância magnética de encéfalo é útil no estabelecimento de diagnóstico diferencial entre as formas orgânica ou idiopática. Os análogos de GnRH de ação prolongada representam o tratamento de escolha da PPC. O componente genético da PPC foi recentemente fortalecido pela evidência de mutações no gene MKRN3, localizado no braço longo do cromossomo 15, em crianças com PPC familial. Nessa revisão, dados clínicos e terapêuticos da PPC serão amplamente discutidos, visando à atualização e à conduta criteriosa dessa condição clínica de grande relevância na endocrinologia pediátrica.

The onset of puberty is first detected as an increase in the amplitude and frequency of pulses of gonadotropin-releasing hormone (GnRH) after a quiescent period during childhood. The reemergence of pulsatile GnRH secretion leads to increases in the secretion of the gonadotropins, luteinizing hormone (LH), and follicle-stimulating hormone (FSH) by the pituitary gland, and the consequent activation of gonadal function. Early activation of the hypothalamic–pituitary–gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty (CPP), which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. CPP is diagnosed on the basis of clinical signs of progressive pubertal development before the age of 8 years in girls and 9 years in boys, pubertal basal and/or GnRH-stimulated LH levels, and advanced bone age. Magnetic resonance imaging of the central nervous system is essential for establishing the CPP form as organic or idiopathic. Depot GnRH-analogues represent the first-line of therapy in CPP. Very recently, the genetic component of CPP was demonstrated by the evidence that the deficiency of the MKRN3 gene, located on long arm of chromosome 15, causes familial CPP in humans. In this current review, clinical and therapeutic aspects of the CPP will be discussed, contributing to adequate diagnosis and criterious approach of this relevant condition of pediatric endocrinology.

Spectral-domain Optical Coherence Tomography of Combined Hamartoma of the Retina and Retinal Pigment Epithelium in Neurofibromatosis

A 5-year-old girl was diagnosed with neurofibromatosis type 2 (NF-2) due to multiple neurofibromas, cafe-au-lait spots, and schwannomas of the brain. During ophthalmologic evaluation, a posterior subcapsular cataract and a gray-green colored subretinal lesion were found in right eye. Fluorescein angiography (FA) revealed a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). At age 9, she underwent cataract surgery. At this time FA and spectral-domain optical coherence tomography (SD-OCT) were taken. The SD-OCT showed an elevated hyperreflective mass in the retina with prominent attenuation of the inner and outer retina, but minimal attenuation in the photoreceptor layers. The underlying retina appeared to be disorganized and thick (791 microm). This is the first case report of SD-OCT imaging of a CHRRPE associated with NF-2 in a pediatric patient. By using SD-OCT in this patient, we could obtain detailed tumor characteristics, and SD-OCT may be helpful in the diagnosis and management of CHRRPE.

Ileocolorectal intussusception due to caecal hamartoma / Intususcepción íleocolorectal causada por hamartoma de ciego

Although 75% of intussusceptions occur within the first two years of life, they can also develop in teenage years. This is a case report of a 13-year old boy with an ileocolorectal intussusception from a large caecal hamartoma (10 x 6 x 2 cm3) adjacent to the ileocaecal valve. Partial resection of the ascending colon and terminal ileum was performed, and the pathology of the resected mass revealed a hamartoma. Ileocolorectal intussusception secondary to hamartoma represents a particularly rare event in the paediatric population. With early surgical intervention, this patient's outcome was uneventful.

Aunque el 75% de las intususcepciones ocurren en los primeros dos años de vida, pueden también desarrollarse en el período de la adolescencia. Éste es el reporte del caso de un niño de 13 años con una intususcepción ileocolorectal a partir de un hamartoma de ciego de gran tamaño (10 x 6 x 2 cm3) adyacente a la válvula ileocecal. Se realizó una resección parcial del colon ascendente y el íleo terminal, y la patología de la masa resecada reveló un hamartoma. La intususcepción íleocolorectal derivada secundariamente a partir de un hamartoma, representa un caso particularmente raro dentro de la población pediátrica. Una intervención quirúrgica temprana, hizo posible que este paciente tuviera una evolución clínica sin graves consecuencias.

Cholangiocarcinoma arising in von Meyenburg complexes / 대한간학회지

No abstract available.

Disturbed Osteoblastic Differentiation of Fibrous Hamartoma Cell from Congenital Pseudarthrosis of the Tibia Associated with Neurofibromatosis Type I

BACKGROUND: Fibrous hamartoma is the key pathology of congenital pseudarthrosis of the tibia (CPT), which was shown to have low osteogenicity and high osteoclastogenicity. This study further investigated the mechanism of impaired osteoblastic differentiation of fibrous hamartoma cells. METHODS: Fibroblast-like cells were obtained from enzymatically dissociated fibrous hamartomas of 11 patients with CPT associated with neurofibromatosis type I (NF1). Periosteal cells were also obtained from the distal tibial periosteum of 3 patients without CPT or NF1 as control. The mRNA levels of Wnt ligands and their canonical receptors, such as Lrp5 and beta-catenin, were assayed using reverse transcriptase PCR (RT-PCR). Changes in mRNA expression of osteoblast marker genes by rhBMP2 treatment were assayed using quantitative real time RT-PCR. Changes in mRNA expression of transcription factors specifically involved in osteoblastic differentiation by rhBMP2 treatment was also assayed using quantitative real-time RT-PCR. RESULTS: Wnt1 and Wnt3a mRNA expression was lower in fibrous hamartoma than in tibial periosteal cells, but their canonical receptors did not show significant difference. Response of osteoblastic marker gene expression to rhBMP2 treatment showed patient-to-patient variability. Col1a1 mRNA expression was up-regulated in most fibrous hamartoma tissues, osteocalcin was up-regulated in a small number of patients, and ALP expression was down-regulated in most fibrous hamartoma tissues. Changes in mRNA expression of the transcription factors in response to rhBMP2 also showed factor-to-factor and patient-to-patient variability. Dlx5 was consistently up-regulated by rhBMP2 treatment in all fibrous hamartoma tissues tested. Msx2 expression was down-regulated by rhBMP2 in most cases but by lesser extent than control tissue. Runx2 expression was up-regulated in 8 out of 18 fibrous hamartoma tissues tested. Osterix expression was up-regulated in 2 and down-regulated in 3 fibrous hamartoma tissues. CONCLUSIONS: Congenital pseudarthrosis of the tibia appears to be caused by fibrous hamartoma originating from aberrant growth of Nf1 haploinsufficient periosteal cells, which failed in terminal osteoblastic differentiation and arrested at a certain stage of this process. This pathomechanism of CPT should be targeted in the development of novel therapeutic biologic intervention.

Spinal cord hamartoma with pseudopancreatic cyst.

A 2-year-old boy presented with weakness of both lower limbs with bladder and bowel involvement and history of frequent falls. Magnetic resonance imaging of the spine revealed a T2 altered signal intensity enhancing mass lesion seen in the spinal epidural space extending from sixth cervical to fourth thoracic vertebrae, which was compressing the adjacent spinal cord. Histopathology of the lesion was suggestive of hamartoma. A brief review of the literature including its embryogenesis is discussed here. The child subsequently developed pseudopancreatic cysts possibly because of repeated falls leading to blunt trauma abdomen.

Cystic adenomatoid malformation: Unusual cause of neonatal respiratory distress

Cystic adenomatoid malformation is a unilateral hamartomatous lesion that generally presents as marked respiratory distress within the first days of life. This disorder account for 95% of cases of congenital cystic lung disease. We report on a newborn male baby, a product of normal vaginal delivery following uneventful, full term pregnancy born to a healthy, multigravida Jordanian mother. The baby was admitted to neonatal intensive care unit immediately after delivery with respiratory distress. Chest ultrasound revealed a multicystic fluid filled mass lesion in the right lower lobe consistent with the diagnosis of adenomatoid malformation later confirmed by histopathology. The baby underwent surgical excision of the mass lesion that was confined to the right lower lobe. The baby did very well postoperatively and was discharged home in good condition; he is now two years old healthy, asympytomatic and growing normally. Evidence indicates long term prognosis, depending on the amount of normal lung tissue left after surgical resection, is generally good

Coexistencia de un hamartoma vascular vesical y carcinoma papilar urotelial: reporte de un caso / Coexistence of a urinary bladder vascular hamartoma and urotelial papilar carcinoma: case report

El hamartoma de la vejiga urinaria es una entidad infrecuente, no hemos encontrado casos reportados en la literatura asociado a carcinoma papilar del urotelio; ambos se pueden presentar como una masa solevantada de la mucosa y es necesario el examen histopatológico para diferenciarlos. Presentamos el caso de un hombre de 73 años de edad en el que coexisten ambas entidades.

The hamartoma of urinary bladder is a infrecuent entity, we have not found case in the literature associated to urotelial papilar carcinoma, both can appear a tumor mass and the histopathology examination is necessary to differentiate them. The differential diagnosis between both tumors needs to the histopathology testing. We present a case of 73 years male in which both entities coexist.

Hamartoma hipotalámico asociado a dos quistes aracnoideos: a propósito de un caso / Hypothalamic hamartoma associated with arachnoid cyst: report of a case

Hypothalamic hamartomas are heterotopias of the nervous tissue which are similar to the grey matter of the hypothalamus. They may cause precocious puberty and/or gelastic seizures. We present the case of a patient who began her pubertal development at the age of 9 months. Cranial magnetic resonance imaging showed a hypothalamic hamartoma associated with middle cranial fossa and pineal region arachnoid cysts, a very rare association.

Los hamartomas hipotalámicos son heterotopias de tejido nervioso que se asemejan a la sustancia gris del hipotálamo. Pueden causar pubertad precoz y/o crisis gelásticas. Presentamos el caso de una paciente que a los 9 meses de edad comenzó desarrollo puberal y que en la resonancia magnética craneal se objetivó un hamartoma hipotalámico asociado a dos quistes aracnoideos, uno en fosa craneal media y otro en región pineal, asociación que es muy infrecuente.

Tuberous sclerosis with portal vein thrombosis, protein C and S deficiency.

A 29-year-old lady with a bad obstetric history and portal vein thrombosis, presented to the Skin OPD for facial lesions. On examination, angiofibromas on face, shagreen patch and periungual fibromas were observed. She also had dental pits and a retinal hamartoma. Investigations revealed hamartomas in the brain and kidney. Hematological work-up showed protein C and S deficiency with Factor V Leiden positivity. Except for the cutaneous symptoms, the patient did not have any clinical manifestations in other organs affected by tuberous sclerosis. A similar association of tuberous sclerosis with protein C deficiency has been reported in only one case in literature.

Fatal bilateral congenital mesenchymal hamartoma of the chest wall.

The authors reported a newborn female baby, 36 weeks gestational age, 2680 gms who developed respiratory distress at 2 hours after birth. Her chest roentgenograms showed a normal-sized heart, sparse lung markings and bilateral masses involving the posterior 6th to 8th ribs. Thoracotomy with partial removal of the left chest mass was performed when she was 12 hours age. Postoperatively, the baby developed progressive respiratory distress and expired at 29 hours-age. Autopsy revealed bilateral nodular masses arising from the inner side of the posterior aspect of the 6th to 8th ribs, measuring 6 x 5 x 4 cm (right) and 7 x 6 x 4 cm (left). The cut surfaces showed multicystic spaces containing blood. Histologically, many blood filled spaces with walls of fibroblasts, cartilage and bone tissue were noted. The diagnosis was mesenchymal hamartoma of the chest wall. Mesenchymal hamartoma of the chest wall usually arises from the posterior or lateral portions of the rib and usually involves many ribs. Multi focal lesions and bilaterality are rare. The clinical presentation can be asymptomatic, mild or severe respiratory distress. Surgical resection is the treatment of choice.