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OBJECTIVE: Hypothalamic hamartomas are congenital lesions that typically present with gelastic seizures, refractory epilepsy, neurodevelopmental delay, and severe cognitive impairment. Surgical procedures have been reported to be effective in removing the hamartomas, however, they are associated with significant morbidity. Therefore, it is not considered a safe therapeutic modality. Image-guided robotic radiosurgery (CyberKnife® Radiosurgery System) has been shown to provide good outcomes without lasting complications. METHODS: This series of cases describes the clinical, radiological, radiotherapeutic, and postsurgical outcomes of five patients with epileptic encephalopathies secondary to hypothalamic hamartomas who were treated with CyberKnife®. RESULTS: All patients exhibited refractory epilepsy with gelastic seizures and were unsuitable candidates for surgical resection The prescribed dose ranged between 16 and 25 Gy, delivered in a single fraction for four patients and five fractions for one patient while adhering strictly to visual pathway constraints. After radiosurgery, four patients maintained seizure control (one with an Engel class Ia, three with an Engel class 1d), and another presented sporadic, nondisabling gelastic seizures (with an Engel class IIa). After 24-26 months of follow-up, in three patients, their intelligence quotient scores increased. No complications were reported. SIGNIFICANCE: This report suggests that Cyberknife may be a good option for treating hypothalamic hamartoma, particularly in cases where other noninvasive alternatives are unavailable. Nevertheless, additional studies are essential in order to evaluate the effectiveness of the technique in these cases.
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Hamartoma , Doenças Hipotalâmicas , Radiocirurgia , Humanos , Radiocirurgia/métodos , Hamartoma/cirurgia , Hamartoma/complicações , Doenças Hipotalâmicas/cirurgia , Doenças Hipotalâmicas/complicações , Feminino , Masculino , Pré-Escolar , Criança , Epilepsia Resistente a Medicamentos/etiologia , Epilepsia Resistente a Medicamentos/cirurgia , AdolescenteRESUMO
Changes in the expression of nuclear ß-catenin are responsible for tumorigenesis. Beta-catenin acts synergistically with the TGF-ß/BMPs pathway. This interaction leads to greater dentin deposition and may explain the differences between distinct tooth morphologies and hamartomas. The aim of this study was to investigate the role of ß-catenin, BMP4 and TGF-ß in the development of odontomas. This cross-sectional, retrospective, immunohistochemical study evaluated 30 compound odontomas, 30 complex odontomas and 17 tooth germs. The results showed that BMP4 and TGF-ß were more immunoexpressed in the ectomesenchyme of complex odontomas (median = 33.7, p < 0.001; median = 76.4, p = 0.002, respectively). Higher immunoexpression of BMP4 and TGF-ß was also observed in the epithelium of tooth germs (median = 2.0, p < 0.001; median = 120.3, p < 0.001, respectively). TGF-ß and BMP4 showed a positive and significant correlation (p < 0.001). Both TGF-ß and BMP4 were positively correlated with nuclear ß-catenin in ectomesenchyme (p = 0.047 and p = 0.023, respectively). Developing teeth exhibited higher concentrations of the proteins studied in odontogenic epithelium, especially during the bud and cap stages. Higher immunoexpression in odontomas occurred mainly in the ectomesenchyme. We therefore suggest that changes in the ectomesenchyme can lead to the development of odontomas.
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Odontoma , Animais , Odontoma/veterinária , beta Catenina/metabolismo , Fator de Crescimento Transformador beta , Estudos Retrospectivos , Estudos TransversaisRESUMO
BACKGROUND: To investigate the incidence and demographic profile of hamartomatous, choristomatous, and teratoid lesions in a Brazilian population over a 49 years-period. METHODS: A retrospective cross-sectional study was performed, and data regarding demographic and clinical aspects were obtained from the medical records of a Brazilian referral center (1970-2019). The collected data were submitted to descriptive analysis and Pearson's chi-square, Fisher's exact, and Kruskal-Wallis tests (p ≤ 0.05). RESULTS: In a total of 16,412 medical records analyzed, 300 (1.83 %) were hamartomatous, 2 (0.01 %) choristomatous, and 1 (0.01 %) teratoid lesions. Hamartomas were most diagnosed in females and adults. Statistical significance was observed between hamartoma and age group (p < 0.001). Odontoma was the most frequent hamartomatous lesion. In choristomatous and teratoid lesions, there was no occurrence in males. The jaws were the most affected anatomical site by hamartoma. Choristomas were observed on the mandible and tongue, while a teratoid lesion was seen on the floor of the mouth. CONCLUSIONS: Low occurrence of choristomatous and teratoid lesions over hamartomatous lesions and a heterogeneous occurrence profile regarding sex, age group, and anatomic site were observed. Hamartomas are relatively common and benign conditions that may cause damage and require special care during dental treatment. Thus, the dentist needs to be able to identify and treat them appropriately. Likewise, although choristomas and teratomas present no risk to patients and have a lower occurrence than hamartomas, they also require treatment.
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Coristoma , Hamartoma , Teratoma , Humanos , Estudos Transversais , Feminino , Masculino , Pessoa de Meia-Idade , Teratoma/epidemiologia , Teratoma/diagnóstico , Teratoma/patologia , Estudos Retrospectivos , Hamartoma/epidemiologia , Hamartoma/diagnóstico , Hamartoma/patologia , Adulto , Brasil/epidemiologia , Coristoma/epidemiologia , Coristoma/diagnóstico , Coristoma/patologia , Adolescente , Idoso , Criança , Doenças da Boca/epidemiologia , Doenças da Boca/diagnóstico , Doenças da Boca/patologia , Pré-Escolar , Adulto Jovem , Neoplasias Bucais/epidemiologia , Neoplasias Bucais/diagnóstico , Neoplasias Bucais/patologia , Lactente , Incidência , Idoso de 80 Anos ou maisRESUMO
A hamartoma is a benign proliferation of typical mature cells specific to a particular anatomical site. In the oral cavity, they may occur as isolated cases or be associated with genetic syndromes. Oral-facial-digital syndrome type VI is a rare genetic disorder with an estimated incidence of one in 50,000-250,000 newborns. Here, we report a case of a 2-year-old boy diagnosed with oral-facial-digital syndrome type VI who was referred for evaluation of a bilateral and normochromic to slightly pinkish nodule on the lateral surface of the tongue. Clinically, the child presented hypotonia, low visual acuity, absence of oculocephalic reflex, delay in neuropsychomotor development, and polydactyly in the feet. Excisional biopsies of both sides of the tongue were performed using a 1.5 W high-power diode laser (wavelength of 980 nm), and histopathological analysis revealed abundant mature adipocytes predominantly arranged in lobules that mainly surrounded the minor salivary gland parenchyma. The surgical sites healed with no complications and the patient remains under follow-up for 10 months. Due to the limited literature on this syndrome and the frequent presence of tongue hamartomas in children, dentists need to be familiar with them.
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Hamartoma , Síndromes Orofaciodigitais , Doenças da Língua , Humanos , Hamartoma/patologia , Masculino , Síndromes Orofaciodigitais/patologia , Síndromes Orofaciodigitais/diagnóstico , Pré-Escolar , Doenças da Língua/patologia , Doenças da Língua/diagnóstico , BiópsiaRESUMO
A 56-year-old Brazilian woman sought dental care, presenting with multiple asymptomatic papillomatous lesions with a coalescent pattern and intermingled cobblestone-like clefts along the alveolar ridge and marginal and attached gingivae. Multiple whitish papules were also observed on the face, neck, and limbs. Incisional biopsies of these lesions were performed. Microscopically, the skin lesion revealed epithelial clear cells and intraepithelial keratinization with areas of orthokeratosis, while the gingival lesions showed a parakeratinized stratified squamous epithelium with collagenous connective tissue. These features were consistent with those of a trichilemmoma and fibroepithelial hyperplasia, respectively. This article illustrates a case of Cowden syndrome (CS), a rare multisystem genetic condition in which both cutaneous and mucosal tissues were affected. Fewer than 40 cases of CS with oral involvement affecting middle-aged adults have been documented hitherto.
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Síndrome do Hamartoma Múltiplo , Papiloma , Dermatopatias , Neoplasias Cutâneas , Adulto , Pessoa de Meia-Idade , Feminino , Humanos , Síndrome do Hamartoma Múltiplo/complicações , Síndrome do Hamartoma Múltiplo/patologia , Neoplasias Cutâneas/patologia , Gengiva/patologia , PTEN Fosfo-Hidrolase/genéticaRESUMO
Background: Lhermitte-Duclos disease (LDD) or dysplastic gangliocytoma of the posterior fossa is a slow-growing and extremely rare mass lesion that involves the Purkinje neurons and the granular layer of the cerebellum. It is characterized by specific neuroradiological features and secondary hydrocephalus. However, documentation of surgical experience is scarce. Case Description: A 54-year-old man with LDD manifesting as progressive headache is presented with vertigo and cerebellar ataxia. Magnetic resonance imaging demonstrated a right cerebellar mass lesion with the characteristic "tiger-striped appearance." We decided to perform partial resection with reduction of tumor volume improving symptomatology as a result of the mass effect in the posterior fossa. Conclusion: Surgical resection is a good alternative for the management of LDD, especially when neurological compromise exists due to mass effect.
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Pallister - Hall syndrome is a rare malformation that involves the presence of a suprasellar hamartoma and associated malformations. Prenatal diagnosis is also rare, and few cases have been reported using magnetic resonance imaging (MRI). A 35-year-old G5P2A2 woman at the 35th week of gestation was referred to our service. Fetal MRI showed an isointense image in the suprasellar region, pushing the brainstem up and backward, and compressing the vermis and cerebellum on T2-weighted images. On T1-weighted images, the hypointense signal of the tumor was similar to that of the brain parenchyma. Ultrasound images showed a suprasellar mass, which was more echogenic than the normal cerebral parenchyma, posteriorly pushing the brain stem, with involvement of the vermis of the tumor and compression of the posterior fossa. Three-dimensional reconstruction using MRI scan data showed a space view of the tumor and its relationships with the other brain tissues allowing better understanding by parents and multidisciplinary team.
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Los hamartomas pancreáticos (HP) son lesiones no neoplásicas extremadamente inusuales y representan < 1% de todos los hamartomas. Además, existe una variante distintiva denominada Hamartoma Lipomatoso Pancreático (HLP), que es aún más raro, con solo 5 casos, incluyendo el presente reporte, descritos en la literatura. HLP carecen de características específicas y clínicamente puede ser confundido con otras lesiones lipomatosas pancreáticas, como lipoma, lipomatosis pancreática, PEComa, liposarcoma y tumores malignos con componentes lipomatosos. El presente reporte describe un caso de HLP en un paciente varón de 70 años, que aquejaba de dolor y masa abdominal, preoperatoriamente diagnosticado como tumor neuroendocrino de bajo grado no funcionante pancreático. Subsecuentemente, fue sometido a enucleación laparoscópica del tumor. El reporte patológico postoperatorio y los estudios de inmunohistoquímica confirmaron el diagnóstico de HLP.
Pancreatic hamartomas (PH) are extremely unusual non-neoplastic tumor-like lesions and accounts for <1% of all hamartomas. Moreover, there is a distinct variant of PH denominated Pancreatic lipomatous hamartoma (PLH), that is even rarer, with only 5 cases, including the present case, reported in the literature. PLH lacks well-defined features and clinically can be mistaken with other lipomatous lesions of the pancreas, including lipoma, pancreatic lipomatosis, PEComa, liposarcoma, and malignant tumors with lipomatous components. Here, we describe a case of PLH in a 70-year-old male with abdominal pain and a lesion, which was preoperatively diagnosed as a pancreatic no functional low-grade neuroendocrine tumor, and subsequent underwent a laparoscopic enucleation of the tumor. The postoperative pathology and immunohistochemical analyses confirmed the diagnosis of PLH.
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Cutis verticis gyrata (CVG) is classified as primary or secondary according to the absence or presence of underlying soft tissue abnormalities. We report an infant with Turner syndrome (TS) who in addition presented with CVG on the scalp. The skin biopsy revealed a hamartoma-like lesion. We reviewed the clinical and histopathological findings of the 13 reported cases of congenital CVG in patients with TS, including ours. In 11 of them, CVG was localized on the skin of the scalp, mainly on the parietal region, and in two, on the forehead. Clinically, CVG had a flesh-colored aspect, with absent or sparse hair, and was not progressive. CVG was classified as primary in four patients who had skin biopsy and it was attributed to the intrauterine lymphedema of TS. However, histopathology in two of these patients identified dermal hamartoma as a secondary cause of CVG, and in three others, including ours, there were hamartomatous changes. Although further studies are required, previous findings support the proposal that some CVG may instead be dermal hamartomas. This report alerts clinicians to recognize CVG as a low-frequency manifestation of TS, but also to consider the possible co-occurrence of TS in all female infants with CVG.
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Doenças do Tecido Conjuntivo , Hamartoma , Anormalidades da Pele , Síndrome de Turner , Lactente , Humanos , Feminino , Síndrome de Turner/complicações , Síndrome de Turner/diagnóstico , Síndrome de Turner/genética , Pele , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/complicações , Couro Cabeludo , Doenças do Tecido Conjuntivo/complicações , Hamartoma/complicaçõesRESUMO
Central airway obstruction refers to the occlusion of more than 50% of the trachea, main stem bronchi, or lobar bronchus. It can potentially become a life-threatening condition. Pulmonary hamartomas (PH) are rare tumors with an incidence of 0.25%, constituting about 8% of all benign lung neoplasms. Only 10% of PH occur endobronchially, while the remaining appear peripherally. We present the case of a women with an endobronchial hamartoma that required emergent resection by bronchoscopy. This is 44-year-old woman, with a history of an endobronchial mass on the right main stem bronchus (RMSB) without histopathological diagnosis or surgical management. She presented with a history of chronic cough and expectoration. Upon admission, a chest X-ray was performed, showing opacities of the right lung and amputations of the RMSB. Bronchoscopy was performed and a tumor-like mass that occludes the RMSB was found, with valve effect causing intermittent occlusion. In anesthetic induction, she presents severe airway obstruction and cardiorespiratory arrest. During resuscitation maneuvers, the lesion that was obstructing the light is seen and resection was performed with electrocautery and cryotherapy probes. Histopathological report described an endobronchial chondromesenchymal hamartoma, with no signs of malignancy. The control X-ray showed adequate re-expansion of the right lung. In conclusion, although endobronchial hamartoma has a low incidence and has a slow growth rate, it can manifest as severe airway obstruction. To achieve a complete resection of an endobronchial lesion, both rigid and/or flexible bronchoscopy plus multimodal interventions are recommended.
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Broncopatias , Hamartoma , Neoplasias Pulmonares , Humanos , Feminino , Adulto , Broncopatias/diagnóstico , Broncopatias/etiologia , Broncopatias/cirurgia , Broncoscopia , Brônquios/patologia , Neoplasias Pulmonares/complicações , Hamartoma/complicações , Hamartoma/diagnóstico , Hamartoma/cirurgiaRESUMO
La ET es un trastorno multisistémico autosómico dominante que se caracteriza por displasia celular y tisular en varios órganos (cerebro, corazón, piel, ojos, riñones, pulmones) que constituyen una fuente importante de morbilidad y mortalidad. Las manifestaciones comunes incluyen tubérculos corticales, nódulos subependimarios, astrocitomas subependimarios de células gigantes, convulsiones, rabdomiomas cardíacos, AML renales, hamartomas retinianos, linfangioleiomiomatosis pulmonar, angiofibromas faciales, manchas de hojas de ceniza, parches de Shagreen, discapacidad intelectual y trastorno del espectro autista. Se presenta a continuación la resolución de un caso problema grave de una paciente que llega a la consulta al hospital público, con severa incapacidad para mantener la permeabilidad de la válvula nasal externa, a expensas de formación harmartomatosa grave, de años de evolución, fétida y sangrante, decidiéndose tomar conducta quirúrgica urgente y agresiva dada las condiciones de la lesión, la poca colaboración de la paciente y el contexto familiar de la misma que presenta además trastornos conductuales asociados a manifestaciones neurológicas de la enfermedad (retraso madurativo)
ET is an autosomal dominant multisystem disorder characterized by cellular and tissue dysplasia in several organs (brain, heart, skin, eyes, kidneys, lungs) that constitute a major source of morbidity and mortality. Common manifestations include cortical tubercles, subependymal nodules, subependymal giant cell astrocytomas, seizures, cardiac rhabdomyomas, renal AML, retinal hamartomas, pulmonary lymphangioleiomyomatosis, facial angiofibromas, ash leaf spots, shagreen patches, intellectual disability, and autism spectrum disorder. This paper presents the resolution of a serious problem case of a patient who attends the consultation of a public hospital, with severe inability to maintain the patency of the external nasal valve, at the expense of severe harmartomatous formation, of many years of evolution, fetid and bleeding, deciding to undertake urgent and aggressive surgical conduct given the conditions of the lesion, the lack of collaboration of the patient and the family context of the same, which also presents behavioral disorders associated with neurological manifestations of the disease (maturational delay).
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Humanos , Feminino , Adulto , Esclerose Tuberosa/patologia , Angiofibroma/terapia , Hamartoma/patologia , Cavidade Nasal/lesõesRESUMO
BACKGROUND: Hamartomatous polyp of the palatine tonsil is a rare benign tumor poorly recognized by clinicians and pathologists. We present a novel case report and provide a literature review about this diagnosis, highlighting its clinicopathological features and treatment modalities. METHODS: We herein report a case of a 22-year-old female patient who complained of a foreign body sensation in her throat. She presented with a pedunculated polyp attached to her right palatine tonsil, which was noticed 15 years ago. An excisional biopsy was performed under local anesthesia, and the microscopic aspect confirmed the diagnosis of the hamartomatous polyp of the palatine tonsil. The literature review was performed using the "palatine tonsil polyps" term in PubMed and Google Scholar. Only English-language publications showing clinical and microscopic descriptions were selected as inclusion criteria. RESULTS: As in our case report, this poorly understood lesion usually presents as a solitary, unilateral pedunculated mass attached to the palatine tonsil surface with nonspecific symptoms. The literature shows less than 100 cases reported, which reveals a lesion preference for male and young adult patients. Microscopically, it is characterized by disorganized proliferation of the connective tissue components indigenous to the involved site, with variable lymphangiectasia, which accounts for the diversity of the diagnostic term and its unknown incidence. Its treatment consists of excision of the polyp with or without tonsillectomy, and no recurrence or malignant transformation of these polyps has been reported. CONCLUSION: The hamartomatous polyp of the palatine tonsil is challenging due to its rarity and lack of standardization of the terminology used in the literature. Including this diagnosis in the 5th edition of the World Health Organization Classification for Head and Neck Tumors is expected to contribute to a better understanding of this pathology.
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Hamartoma , Pólipos , Neoplasias Tonsilares , Tonsilectomia , Feminino , Adulto Jovem , Humanos , Masculino , Adulto , Tonsila Palatina/patologia , Neoplasias Tonsilares/patologia , Hamartoma/patologia , Pólipos/patologia , Pólipos/cirurgiaRESUMO
Happle-Tinschert syndrome is a rare genodermatosis caused by a postzygotic mutation in SMO gene. The most recognized clinical findings include segmentally arranged basaloid follicular hamartomas, nevoid hypertrichosis, linear atrophoderma, and hypopigmentation or hyperpigmentation following Blaschko lines associated with osseous, dental, and cerebral alterations. We report three additional cases, two of which lacked the pathognomonic basaloid follicular hamartomas, with genetic confirmation and detailed clinical characterization and describe new cutaneous features of this infrequent syndrome.
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Condrodisplasia Punctata , Hamartoma , Hiperpigmentação , Anormalidades da Pele , Humanos , Animais , Ouriços , Hiperpigmentação/diagnóstico , Hiperpigmentação/genética , FenótipoRESUMO
RESUMEN El hamartoma de músculo liso es una malformación cutánea poco común y benigna, congénita o adquirida. En la bibliografía se describen otras enfermedades superpuestas, como la melanosis de Becker, especialmente en el caso de lesiones con hipertricosis e hiperpigmentación. Describimos a un paciente masculino de 21 años con hamartoma de músculo liso adquirido, que es una manifestación rara y con pocos reportes descritos. Destacamos la necesidad de valorar una posible asociación con la melanosis de Becker, enfatizando que los aspectos clínicos, aun con la histopatología, no siempre permiten la individualización.
ABSTRACT Smooth muscle hamartoma is a rare and benign cutaneous malformation, congenital or acquired. Overlapping other diseases is described in the literature, such as Becker's Melanosis, especially in the case of lesions with hypertrichosis and hyperpigmentation. We describe here a 21-year-old male patient with acquired smooth muscle hamartoma, which is a rare manifestation and with few reports described. We emphasize the need to assess a possible association with Becker's melanosis, emphasizing that clinical aspects, even when reconciled with histopathology, do not always allow for individualization.
RESUMO O hamartoma de músculo liso é uma malformação cutânea benigna e rara, de natureza congênita ou adquirida. A sobreposição à outras doenças é descrita na literatura, como a melanose de Becker, especialmente em caso de lesões com hipertricose e hiperpigmentação. Descrevemos aqui, quadro de paciente masculino de 21 anos, com hamartoma de músculo liso adquirido, que é uma manifestação rara e com poucos relatos descritos. Ressaltamos a necessidade de avaliar possível associação com a melanose de Becker, enfatizando que nem sempre os aspectos clínicos, mesmo quando conciliados com a histopatologia, permitem a individualização.
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BACKGROUND: Respiratory epithelial adenomatoid hamartoma (REAH) is a sinonasal glandular overgrowth arising from the surface respiratory epithelium and invaginating into the stroma. Clinically, it appears as a polypoid mass that may cause nasal obstruction, anosmia, and epistaxis. The presence of cartilaginous and/or osseous areas move the lesion to a chondro-osseous respiratory epithelial (CORE) hamartoma subtype. Scattered small seromucinous glands may be observed between typical REAH glands and when it is the only feature, it represents seromucinous hamartoma (SH). The molecular pathogenesis of REAH has been poorly explored and remains unclear. Given that KRAS, BRAF, and EGFR mutations have been detected in a variety of sinonasal tumors, we aimed to assess these mutations in REAH and SH. METHODS: Ten REAH (including one CORE subtype), in addition to two SH cases, were Sanger sequenced by standard techniques. The targeted regions included KRAS exons 2-4 (encompassing hotspots codons 12, 13, 61, and 146), BRAF exons 11 and 15 (spanning the V600 codon), and EGFR exons 19 and 20. RESULTS: All REAH and SH samples showed wild-type sequences for KRAS, BRAF, and EGFR genes. CONCLUSION: Our results demonstrate a lack of KRAS, BRAF, or EGFR pathogenic variants with further evaluation of REAH and SH needed to elucidate driver genetic events.
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Adenoma , Hamartoma , Humanos , Proteínas Proto-Oncogênicas B-raf/genética , Proteínas Proto-Oncogênicas p21(ras)/genética , Mucosa Respiratória/patologia , Adenoma/patologia , Hamartoma/genética , Hamartoma/diagnóstico , Hamartoma/patologia , Receptores ErbB/genética , Diagnóstico DiferencialRESUMO
Folliculocystic and collagen hamartoma (FCCH) is a rare entity with only 18 reported cases worldwide. Of them, most are found in patients diagnosed with tuberous sclerosis complex (TSC). FCCH has distinctive histopathologic features, including collagen deposition in the dermis, perifollicular fibrosis, and comedones with keratin-containing cysts lined by infundibular epithelium. We report three patients with a definitive TSC clinical diagnosis in whom clinical, histopathologic, and molecular features were studied to establish if there exists a genotype-phenotype correlation. The molecular results showed different heterozygous pathogenic variants (PV) in TSC2 in each patient: NM_000548.4:c.5024C>T, NG_005895.1:c.1599+1G>T, and NM_000548.4:c.2297_2298dup, to our knowledge; the latter PV has not been reported in public databases. The same PVs were identified as heterozygous in the tumor tissue samples, none of which yielded evidence of a TSC2 second hit. Because all FCCH patients with available molecular diagnosis carry a pathogenic genotype in TSC1 or TSC2, we suggest that FCCH should be considered as a new and uncommon diagnostic manifestation in the TSC consensus international diagnostic criteria. The early recognition of FCCH by clinicians could prompt the identification of new TSC cases. Interestingly, our molecular findings suggest that one of the patients described herein is a probable case of somatic mosaicism.
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Hamartoma , Esclerose Tuberosa , Humanos , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Esclerose Tuberosa/complicações , Proteína 2 do Complexo Esclerose Tuberosa/genética , Proteína 1 do Complexo Esclerose Tuberosa/genética , Hamartoma/diagnóstico , Hamartoma/genética , Colágeno , MutaçãoRESUMO
The etiology of central precocious puberty (CPP) is multiple and heterogeneous, including congenital and acquired causes that can be associated with structural or functional brain alterations. All causes of CPP culminate in the premature pulsatile secretion of hypothalamic GnRH and, consequently, in the premature reactivation of hypothalamic-pituitary-gonadal axis. The activation of excitatory factors or suppression of inhibitory factors during childhood represent the 2 major mechanisms of CPP, revealing a delicate balance of these opposing neuronal pathways. Hypothalamic hamartoma (HH) is the most well-known congenital cause of CPP with central nervous system abnormalities. Several mechanisms by which hamartoma causes CPP have been proposed, including an anatomical connection to the anterior hypothalamus, autonomous neuroendocrine activity in GnRH neurons, trophic factors secreted by HH, and mechanical pressure applied to the hypothalamus. The importance of genetic and/or epigenetic factors in the underlying mechanisms of CPP has grown significantly in the last decade, as demonstrated by the evidence of genetic abnormalities in hypothalamic structural lesions (eg, hamartomas, gliomas), syndromic disorders associated with CPP (Temple, Prader-Willi, Silver-Russell, and Rett syndromes), and isolated CPP from monogenic defects (MKRN3 and DLK1 loss-of-function mutations). Genetic and epigenetic discoveries involving the etiology of CPP have had influence on the diagnosis and familial counseling providing bases for potential prevention of premature sexual development and new treatment targets in the future. Global preventive actions inducing healthy lifestyle habits and less exposure to endocrine-disrupting chemicals during the lifespan are desirable because they are potentially associated with CPP.
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Doenças Hipotalâmicas , Puberdade Precoce , Humanos , Puberdade Precoce/diagnóstico , Puberdade Precoce/genética , Hormônio Liberador de Gonadotropina/metabolismo , Doenças Hipotalâmicas/complicações , Hipotálamo , Puberdade , Ubiquitina-Proteína Ligases/metabolismoRESUMO
Los hamartomas son lesiones epiteliales de tipo benigno caracterizados por una proliferación de células típicas del tejido originario con distribución y organización diferente a la común. El hamartoma nasal es una lesión poco frecuente, que suele ser un hallazgo casual en la biopsia. Presentamos una serie de 4 pacientes diagnosticados de hamartoma del epitelio respiratorio, que clínicamente se presentan como pólipos u obstrucciones a nivel de cavum bilaterales
The hamartoma are epithelial lesions categorized as benign which are known for being a proliferation of typical cells of the original tissue but with unusual distribution and organisation. The nasal hamartoma is a short known lesion, which typically is found as a causal discovery. Below we present a series of 4 patients diagnosed with hamartoma of respiratory epithelium that are presented clinically as polyps or cavum bilateral obstruction.
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Humanos , HamartomaRESUMO
Los nevus apocrinos puros son hamartomas de las unidades pilosebáceas caracterizadas por proliferaciones benignas de glándulas apocrinas maduras, la cual es una descripción microscópica realizada en los reportes de patología sin que se nombre el diagnóstico exacto. Considerando además, los diagnósticos diferenciales clínicos y la baja frecuencia de este diagnóstico, presentamos un caso clínico y una revisión del tema
Pure apocrine nevi are hamartomas of the pilosebaceous units characterized by benign proliferations of mature apocrine glands, which is a microscopic description made in pathology reports without the exact diagnosis being named. Considering the clinical differential diagnoses and its low frequency, we present a case report and a review of the literature on this topic