A Large Follicular Adenomatoid Odontogenic Tumor Occupying the Maxillary Sinus: A Case Report.

Adenomatoid odontogenic tumour is a rare benign, odontogenic tumour with uncertain histogenesis. Whether it is a hamartoma or a neoplasm is still a controversial topic. It is usually associated with an unerupted maxillary canine. Here, we discuss a follicular adenomatoid odontogenic tumour in a young girl with uncommon features such as it arose from two unerupted teeth and partial resorption of the roots of other normal teeth. The tumour was large enough to completely occupy the maxillary sinus. It was treated with enucleation and curettage by lateral rhinotomy approach. Keywords: adenomatoid tumor; case reports; hamartoma; odontogenic cysts.

Intractable gelastic seizures during infancy: ictal positron emission tomography (PET) demonstrating epileptiform activity within the hypothalamic hamartoma.

Gelastic seizures comprise a very rare form of epilepsy. They present with recurrent bursts of laughter voices without mirth and are most commonly associated with the evolution of a hypothalamic hamartoma. The purpose of this article is to describe the second reported ictal fluorodeoxyglucose-positron emission tomography study in a unique case of an infant with intractable gelastic seizures since the neonatal period associated with a hypothalamic hamartoma. The patient presented at 4 months old with recurrent, almost persistent, gelastic seizures consisting of laughter bouts without mirth. The seizures were noticeable at the first week of life and increased in frequency to last up to 12 hours, namely status gelasticus. These gelastic fits were accompanied with focal motor seizures, including unilateral right-eye blinking and mouth twitching. Developmental mile-stones were intact for age. Magnetic resonance imaging of the cortex demonstrated a large hypothalamic hamartoma within the third ventricle, hampering cerebrovascular fluid drainage of the lateral ventricles. An electroencephalography was nondiagnostic. Ictal fluorodeoxyglucose-positron emission tomography demonstrated a large circumscribed hypermetabolic region within the location of the hypothalamic hamartoma, representing localized intense epileptiform activity. The infant became instantly free of all seizure types given minute doses of oral benzodiazepine (clonazepam) and remains completely controlled after 12 months. Her overall development remains intact. This ictal fluorodeoxyglucose-positron emission tomography is the second reported study verifying that the main source of the epileptic activity inducing gelastic seizures originates from the hypothalamic hamartoma itself; therefore, a complementary fluorodeoxyglucose-positron emission tomography study should be considered in any patient presenting with intractable gelastic seizures, especially in those associated with hypothalamic hamartoma, in order to localize the region of epileptiform activity amenable to surgical resection if intensive drug therapy fails.

Orthodontic therapy in patients with pericoronal hamartoma.

Pericoronal lesions are undesirable for dental eruption, and they are always associated with unerupted teeth. Pericoronal lesions are common and are usually treated by extraction of the permanent tooth. Pericoronal hamartoma is a special type of pericoronal lesion, and little information about it is available in the orthodontic literature. This report presents a patient with pericoronal hamartoma on the mandibular left permanent first molar who had orthodontic treatment. Because of the similarity of the radiographic radiolucency of pericoronal hamartoma and other lesions, a differential diagnosis must be made to avoid extraction of permanent teeth.

Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation.

OBJECTIVE: To describe a patient with a multifocal demyelinating motor neuropathy with onset in childhood and a mutation in phosphatase and tensin homolog (PTEN), a tumor suppressor gene associated with inherited tumor susceptibility conditions, macrocephaly, autism, ataxia, tremor, and epilepsy. Functional implications of this protein have been investigated in Parkinson and Alzheimer diseases. METHODS: We performed whole-exome sequencing in the patient's genomic DNA validated by Sanger sequencing. Immunoblotting, in vitro enzymatic assay, and label-free shotgun proteomic profiling were performed in the patient's fibroblasts. RESULTS: The predominant clinical presentation of the patient was a childhood onset, asymmetric progressive multifocal motor neuropathy. In addition, he presented with macrocephaly, autism spectrum disorder, and skin hamartomas, considered as clinical criteria for PTEN-related hamartoma tumor syndrome. Extensive tumor screening did not detect any malignancies. We detected a novel de novo heterozygous c.269T>C, p.(Phe90Ser) PTEN variant, which was absent in both parents. The pathogenicity of the variant is supported by altered expression of several PTEN-associated proteins involved in tumorigenesis. Moreover, fibroblasts showed a defect in catalytic activity of PTEN against the secondary substrate, phosphatidylinositol 3,4-trisphosphate. In support of our findings, focal hypermyelination leading to peripheral neuropathy has been reported in PTEN-deficient mice. CONCLUSION: We describe a novel phenotype, PTEN-associated multifocal demyelinating motor neuropathy with a skin hamartoma syndrome. A similar mechanism may potentially underlie other forms of Charcot-Marie-Tooth disease with involvement of the phosphatidylinositol pathway.

Fibrolipomatous hamartoma in a patient with tuberous sclerosis: report of a case.

Tuberous sclerosis is a rare congenital disorder with an incidence of 1 in 6000 births. The classic triad is seizure, mental deficiency, and angiofibromas. Orofacial manifestations include fibrous hyperplasia, hemangioma, bifid uvula, cleft lip and palate, macroglossia, high arched palate, and enamel defects. Benign tumors of the jaws including desmoplastic fibroma, calcifying odontogenic tumor, and odontogenic myxoma have been recently reported in tuberous sclerosis. This case report adds fibrolipomatous hamartoma of the mandible to this list.

Case report: a hamartoma presenting as a giant oesophageal polyp.

Giant oesophageal polyp (GOP) is a very rare intraluminal tumour. It is usually a benign, fibrovascular polyp arising from the proximal third of the oesophagus. We describe a patient with such a polyp but with a histological diagnosis of hamartoma. Regurgitation of the polyp into the mouth, which can lead to asphyxia, is a feared complication. A barium swallow and oesophagoscopy are the common diagnostic procedures. The site of the polyp and its volume often define the method of resection.

Leiomyomatous hamartoma of the posterior tongue: a case report.

A case of a rare leiomyomatous hamartoma arising in the posterior tongue of a sixteen-month-old male is reported. There has been no recurrence following simple excision and presenting symptoms of choking on swallowing have resolved. Most other leiomyomatous hamartomas in the upper aerodigestive tract have been reported in Japanese patients and have involved the maxillary gingiva and hard palate.

Oral manifestations of Schimmelpenning syndrome: case report and review of literature.

Schimmelpenning syndrome (SS) is characterised by specific skin manifestations, skeletal defects, and central nervous system abnormalities. Here, the SS is briefly reviewed, and the oral and dental manifestations are described in a patient whose medical findings were previously published and included severe hypophosphatemic rickets. Significant oral and dental features included papillomatous lesions of the gingiva, hemihyperplasia (hemihypertrophy) of the tongue, bone cysts, aplasia of teeth, enlarged pulp chambers, hypoplastic or absent enamel, and an odontodysplasia-like permanent tooth.

[Cowden's disease]. / Enfermedad de Cowden.

We report a typical case of Cowden disease or Multiple Hamartoma Syndrome in a 32 year old female without a family history of this illness. The patient suffered bilateral fibrocystic disease of the breast, having been subjected to mastectomy because of carcinomatous degeneration. She complained of gastric symptoms, and the x-ray examination showed multiple polyposis. On physical examination an asymptomatic thyroid nodule was noted. The skin showed multiple wart-like lesions, lichenoid papules, localized hyperkeratosis and pigmented spots. She had many papillomas in her mouth a rasberry tongue and bilateral perleches.

A missense mutation accelerating the gating of the lysosomal Cl-/H+-exchanger ClC-7/Ostm1 causes osteopetrosis with gingival hamartomas in cattle.

Chloride-proton exchange by the lysosomal anion transporter ClC-7/Ostm1 is of pivotal importance for the physiology of lysosomes and bone resorption. Mice lacking either ClC-7 or Ostm1 develop a lysosomal storage disease and mutations in either protein have been found to underlie osteopetrosis in mice and humans. Some human disease-causing CLCN7 mutations accelerate the usually slow voltage-dependent gating of ClC-7/Ostm1. However, it has remained unclear whether the fastened kinetics is indeed causative for the disease. Here we identified and characterized a new deleterious ClC-7 mutation in Belgian Blue cattle with a severe symptomatology including perinatal lethality and in most cases gingival hamartomas. By autozygosity mapping and genome-wide sequencing we found a handful of candidate variants, including a cluster of three private SNPs causing the substitution of a conserved tyrosine in the CBS2 domain of ClC-7 by glutamine. The case for ClC-7 was strengthened by subsequent examination of affected calves that revealed severe osteopetrosis. The Y750Q mutation largely preserved the lysosomal localization and assembly of ClC-7/Ostm1, but drastically accelerated its activation by membrane depolarization. These data provide first evidence that accelerated ClC-7/Ostm1 gating per se is deleterious, highlighting a physiological importance of the slow voltage-activation of ClC-7/Ostm1 in lysosomal function and bone resorption.

Fibromatosis arising in association with neuromuscular hamartoma of the mandible.

Aggressive fibromatosis is a benign but locally-aggressive tumor, which most often affects the muscles of the shoulder, the pelvic girdle, and the thigh. It usually affects adolescents and young adults. Desmoplastic fibroma, considered the bone counterpart of soft tissue fibromatosis, is a rare tumor that usually affects the metaphyseal or diaphyseal portions of long bones or, less commonly, the jaw. Neuromuscular hamartoma, a rare developmental lesion composed of mature elements of both striated muscle and nerve, is usually diagnosed in infants and children and affects large nerve trunks. Rarely, it can affect the head and neck region. Occasional cases showing an association between aggressive fibromatosis and neuromuscular hamartoma have been reported in the literature. Here we present a unique case of an adult patient with desmoplastic fibroma of the mandible in association with neuromuscular hamartoma.

Dental hardware complicating diagnosis in refractory gelastic epilepsy secondary to hypothalamic hamartoma.

Hypothalamic hamartomas (HH) are developmental malformations of the hypothalamus associated with a potentially treatable epileptic encephalopathy, characterized by early onset gelastic seizures, the later development of multiple seizure types and progressive cognitive and behavioral decline. Surgical treatment of HH can lead to seizure control and improvement in the cognitive-behavioral syndrome. Video-EEG telemetry (VET) is often necessary to characterize the semiology of the seizures, but there are no specific interictal or ictal EEG pattems that will confirm the diagnosis. Magnetic resonance imaging (MRI) can identify HH and define their anatomy, but the imaging findings may be subtle and susceptible to artifactual contamination. We present a patient with intractable gelastic epilepsy in whom the diagnosis of HH was initially missed due to failure to recognize the clinical syndrome and contamination of the MRI images with dental hardware artifact. VET confirmed the clinical diagnosis and the HH was identified on MRI after the dental hardware was removed. VET should be performed to confirm seizure semiology in patients with suspected gelastic epilepsy. Establishing this diagnosis can subsequently direct the appropriate neuroradiological evaluation for HH and surgical treatment of these lesions.

Pancreatic hamartoma and SAPHO syndrome: a case report.

We report the first case of an association of pancreatic hamartoma with SAPHO syndrome mimicking disseminated bone metastases. A 46 year old male with intermittent back pain for 10 years, relieved by NSAIDs and desquamation erythemathous palmo-plantar eruption one year before, presented with symptoms of duodenal stenosis, a cystic tumor at the head of the pancreas and osteoformative (hyperostosis) and osteodestructive (osteitis) lesions of the clavicle, mandible, lumbar spine. The bone lesions resembled bone metastases, but an inflammatory infiltrate and fibrosis were found on the excisional biopsy of left clavicle, compatible with the SAPHO syndrome. The pancreatic tumor grew rapidly and showed a histological aspect of malignancy at laparoscopy. A cephalic duodenopancreatectomy was performed, but the histological findings established the diagnosis of pancreatic hamartoma. Several months later, the bone Tc99m scintigraphy was normal.

Cleft palate associated with hamartomatous bifid tongue. Report of two cases.

Congenital tumours of the tongue may have a detrimental effect on the simultaneously developing adjacent structures. Palate formation may be affected as it develops in the same period of organogenesis as the tongue. We present two such rare cases of cleft palate with tumour of the dorsal tongue as the probable causative factor. To analyse such an entity, it is necessary to understand the embryogenesis of the palate and tongue. The management and possible elucidation of the occurrence with respect to the developmental phases of tongue and palate are detailed in brief.

Intracranial compound odontome.

An exceedingly rare case of an extragnathic odontome is described arising within the brain. A 10-year-old boy complained of progressive frontal headache for 5 years. Axial computerized tomography the head revealed a solid, calcified lesion with well-defined borders localized in the sellar and suprasellar region composed of multiple calcified structures resembling teeth. The diagnosis was compound odontome. Physical examination and blood analysis revealed hypopituitarism. The patient was submitted for radical tumour resection. He developed persistent diabetes insipidus, hypothyroidism and adrenal insufficiency for which appropriate replacement therapy has been necessary. This case demonstrates that an odontogenic lesion may arise in brain tissues due to the embryological relationship between primordial stomodeum and Rathke's pouch. Its development could be associated with endocrine disturbances.

Review of linear epidermal nevus with oral mucosal involvement--series of five new cases.

INTRODUCTION: Linear epidermal nevi are sporadic hamartomatous alterations of the epidermis and superficial dermis that clinically appear as verrucous papules and plaques distributed in a linear pattern following Blaschko's lines. Their extent varies from unilateral involvement (nevus unius lateris) to extensive bilateral involvement (ichthyosis hystrix). Oral mucosal lesions have rarely been described. AIMS: We review the literature, focusing on the rare intraoral manifestations of linear epidermal nevus. CASE SERIES: We present a series of five new cases with oral mucosal involvement. Four cases had associated cutaneous lesions and one case had oral lesions exclusively. Histopathologic evaluation of lesional tissue in four cases showed hyperkeratosis, acanthosis, epithelial hyperplasia, and papillomatosis. Dental abnormalities, consisting of enamel hypoplasia and congenitally missing teeth, were noted in one patient adjacent to the oral lesions.

Amelogenesis imperfecta, rough hypoplastic type, dental follicular hamartomas and gingival hyperplasia: report of a case from Central America and review of the literature.

We report on a black male patient from Central America with amelogenesis imperfecta, rough hypoplastic type, dental follicular hamartomas, and gingival hyperplasia. Although previous reports have described this association of amelogenesis imperfecta with hyperplastic follicular hamartomas or central odontogenic fibroma-like lesions in blacks from South Africa, we have noticed non-black patients in the literature with similar findings.

Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.

We report on a 23-week fetus with a hypothalamic hamartoma, lobar holoprosencephaly, right anophthalmia, and facial asymmetry, features which are consistent with the holoprosencephaly-diencephalic hamartoblastoma (HDH) association. In an attempt to better delineate HDH, we reviewed 19 published patients with similar features. The HDH clinical spectrum ranges from classic holoprosencephaly with micro/anophthalmia, multiple additional findings in non-contiguous structures and early lethality, to isolated microforms of holoprosencephaly. Associated cephalic features mainly include cortical/neuronal migration defects (39%), meningeal anomalies (28%), brainstem/posterior fossa malformations (22%), dysmorphic ears (41%), facial asymmetry (35%), and hypoplastic mandible (29%). Fifty-three percent of patients have additional extra-cephalic malformations, for example, vertebral/rib segmentation defects (50%), hypo/aplastic lungs (38%), congenital heart defect (29%), and urinary anomalies (29%). HDH shows etiological heterogeneity, that is, teratogenic exposure, chromosome imbalances, autosomal recessive as well as dominant "de novo" mutations. Several features could directly result from a disruptive sequence caused by an early hamartoma which alters the development of forebrain, hindbrain, meninges, and 1st-2nd branchial arches, although the pleiotropic action of genetic/environmental factors cannot be excluded. HDH does not emerge as a distinct syndrome, but other hypotheses, including separate conditions within a common pathway and the developmental field defect theory, are discussed.