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Abstract: Basaloid follicular hamartoma (BFH) is a rare, benign follicular neoplasm which typically presents as brown to skin-colored papules on the face, scalp, and trunk. Histologically, BFH consists of cords and strands of basaloid cells forming cystic structures with scant stroma and should be distinguished from infundibulocystic basal cell carcinoma to avoid overly aggressive treatment. Although BFH has been found to be associated with distinct syndromes, including alopecia, myasthenia gravis, and cystic fibrosis, there is often clinical, histopathologic, and genetic overlap with nevoid basal cell carcinoma syndrome (NBCCS). In this article, we describe a case of a 13-year-old patient with NBCCS who presented with multiple BFHs and propose that it its inclusion into the diagnostic criteria for NBCCS be considered., Competing Interests: The authors declare no conflicts of interest., (Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.)

Background: We describe a continuous monitoring method aimed at preserving nerve function during biopsy of lesions on the oculomotor nerve using stimulation of the oculomotor nerve proximal to the lesion., Case Description: A 5-year-old girl with a recurrent left oculomotor nerve palsy and contrast-enhancing left oculomotor nerve mass on magnetic resonance imaging underwent a biopsy of the lesion to aid in its diagnosis. At the time of surgery, needle electrodes were inserted into the superior and inferior rectus muscles percutaneously, and cotton-covered electrodes were implanted into the oculomotor nerve proximal to the lesion. Compound muscle action potentials of the oculomotor nerve were measured continuously by monopolar stimulation. The lesion was mapped by direct stimulation, and the unresponsive area was excised. The amplitude of the compound muscle action potentials decreased during the resection but recovered postoperatively. After resection of the lesion, the compound muscle action potentials remained the same as they were preoperatively. No obvious postoperative oculomotor nerve palsy was observed., Conclusions: This method of continuous monitoring of the function of the oculomotor nerve is simple to use and is suitable for lesions in close proximity to the oculomotor nerve., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Objectives: To assess the site and histopathology of polyps at the first revision surgery for recurrent nasal polyposis (NP) after radical ethmoidectomy (nasalization)., Study Design: Retrospective study., Methods: Between January 2008 and December 2015, a total of 62 patients having undergone revision surgery for recurrent NP after nasalization were included. The site and histology of the recurrence of polyps were analyzed according to operative and pathological reports., Results: Histology showed classical inflammatory nasal polyps (CINP) in 91% of nasal cavities at primary surgery versus respiratory epithelial adenomatoid hamartoma (REAH) or REAH associated to CINP in 54.8% at revision surgery (P < .0001). Polyps were principally observed in the ethmoidal complex in 70% of nasal cavities during primary surgery and in the olfactory clefts in 88.7% during revision surgery (P < .0001). The mean interval between nasalization and first revision surgery was 8.8 ± 4.4 years (0.4-21.7 years). This interval was significantly shorter for grade 3 polyps, polyps removed from both ethmoidal complex and olfactory cleft at primary surgery, association of CINP and REAH at primary surgery, and when primary surgery had preserved the middle turbinates., Conclusion: Polyp recurrences after nasalization were mainly observed in the olfactory clefts and can be different histological features: inflammatory polyps, respiratory epithelial adenomatoid hamartoma, or a combination of both., Level of Evidence: 4 Laryngoscope, 130:2098-2104, 2020., (© 2019 The American Laryngological, Rhinological and Otological Society, Inc.)

Background: Spectral domain optical coherence tomography (SD-OCT) is proposed as a way of predicting the development and likelihood of retinal astrocytic hamartoma (RAH) in tuberous sclerosis complex (TSC) in elderly patients., Case Presentation: This report describes a case of RAH in TSC in an elderly patient. The patient was a 62-year-old woman and experienced pain in the lower left abdomen for two years. Bilateral renal angiomyolipoma, multiple hepatic angiomyolipoma and multiple pulmonary nodules were demonstrated using computed tomography (CT). Brain CT showed bilateral multiple calcification near by the cella lateralis. A clinical diagnosis of TSC was made. Visual acuity (decimal) in the right and left eye was determined to be 0.6 and 0.8, respectively. SD-OCT revealed a retinal tumour in the inner layer of the retina in the right fundus and a pre-retinal membrane which may have evolved later., Conclusions: A routine ophthalmic examination is advised for patients suspected of having TSC to prevent this condition from being overlooked. In addition, an OCT examination can be used to predict the development and likelihood of RAH.

Rationale: Report a case of bilateral multiple retinal hamartomas (RAHs) in a patient with tuberous sclerosis complex (TSC) and introduced a new method (subthreshold micropulse laser photocoagulation) for the treatment of RAHs., Patient Concerns: A 20-year-old man with TSC complained of decreased vision and metamorphosia in both eyes for 2 months. At presentation, visual acuity (VA) was 20/32 in the right eye and 20/40 in the left eye. Fundus photographs, optical coherence tomography, fundus fluorescein angiography (FFA), and indocyanine green angiography indicated multiple RAHs in both eyes., Diagnoses: Bilateral retinal astrocytic hamartomas., Interventions: In the right eye, 577 nm photocoagulation was adopted to treat the RAHs with obvious fluorescein leakage in FFA. The paramacular RAHs were treated by subthreshold micropulse mode to minimize the damage to macula. Photocoagulation therapy was administrated in the left eye after 1 dose of intravitreal ranibizumab treatment., Outcomes: After photocoagulation therapy (including subthreshold micropulse laser photocoagulation for the paramacular RAHs in both eyes), the VA improved to 20/25 OD and 20/32 OS with no recurrence of exudation., Lessons: About 577 nm photocoagulation for the peripheral RAHs in combination with subthreshold micropulse laser photocoagulation for RAHs in the macular zone is a good option for multiple RAHs in patients with TSC.

Mucosal Schwann cell hamartomas (MSCH) are benign mesenchymal tumours rarely seen in the gastrointestinal tract. They occasionally present as incidental sessile polyps during colonoscopy. A 55-year-old asymptomatic female patient with a medical history of multiple sclerosis presented for a screening colonoscopy. A 5 mm low-risk tubular adenoma was noted in the caecum, and a second 5 mm polyp was found in the ascending colon. Histopathology of the ascending colon polyp showed proliferation of spindle cells without ganglion cells in the lamina propria. Immunohistochemical findings are compatible with an MSCH. Surveillance colonoscopy was scheduled in 5 years based on the presence of a single low-risk tubular adenoma., Competing Interests: Competing interests: None declared., (© BMJ Publishing Group Limited 2018. No commercial re-use. See rights and permissions. Published by BMJ.)

Tuberous sclerosis complex (TSC) is a genetic multisystem disease with variable manifestations that can prominently involve the skin. The diagnosis of this disorder has evolved over the past two centuries. The 2012 TSC criteria emphasizes the importance of dermatological findings; orocutaneous manifestations account for 4 of 11 major criterion and 3 of 6 minor criterion. A detailed clinical dermatological evaluation is recommended for both pediatric and adult patients undergoing initial evaluation for TSC. Comprehensive dermatologic evaluation is extremely helpful when assessing these lesions and constructing a differential diagnosis., (© 2018 Wiley Periodicals, Inc.)

Tuberous sclerosis complex (TSC) is a neurocutaneous autosomal-dominant genetic syndrome marked by development of hamartomatous lesions arising from dysfunction of the mammalian target of rapamycin (mTOR) pathway. Although TSC remains a heterogeneous clinical entity, the recent inclusion of genetic diagnostic criteria reflects advancement in our understanding of its underlying etiopathogenesis. Abnormal cellular growth, differentiation, and migration result in multisystem sequelae, with neurologic manifestations of TSC representing the primary cause of morbidity and mortality for the majority of individuals. Modern imaging techniques aid in the diagnosis of TSC and guide treatment strategies by revealing central nervous system findings. Cortical tubers are the namesake lesion of the disorder and occur in up to 90% of cases, often exerting significant epileptogenic potential. Subependymal nodules are found in 80% of patients as calcified tumors lining the ependyma of the lateral ventricles. In some cases, these nodules are thought to progress to subependymal giant cell astrocytomas and may present with obstructive hydrocephalus. Retinal astrocytic hamartomas are also common, present in 50% of patients. Surgery remains the treatment of choice for large or symptomatic lesions, though clinical trials have highlighted a potential role for mTOR pathway antagonism. A multidisciplinary approach is necessary for achieving optimal patient outcomes., (© 2018 Wiley Periodicals, Inc.)

The authors describe the case of a 22-month-old boy who presented with gelastic seizures and developmental delay. Magnetic resonance imaging and video-electroencephalography monitoring revealed a primarily intraventricular hypothalamic hamartoma and gelastic seizures occurring 20-30 times daily. The patient was treated with various regimens of antiepileptic medications for 16 months, but the seizures remained medically intractable. At 3 years of age, he underwent stereotactic laser ablation with an aim of disconnection of the lesion. The procedure was performed with the NeuroBlate SideFire probe. To the authors' knowledge, this is the first reported use of this technology for this procedure and serves as proof of concept. There were no perioperative complications, and 2 years postprocedure, the patient remains seizure free with marked behavioral and cognitive improvements.

Introduction: Tuberous sclerosis is a rare multisystemic disease with an autosomal dominant inheritance pattern. There are few documented cases in the literature of retinal hamartomas (astrocytomas) with aggressive progression in the context of this disease., Case Report: A report is presented on a case of a 31 year-old male with unknown history of ophthalmic or systemic conditions, who referred to a history of 6 months of blurred vision in his right eye. This was caused by a unilateral retinal hamartoma due to an undiagnosed tuberous sclerosis., Discussion: Multidisciplinary management, with the cooperation of Internal Medicine and the Oncology Department, is needed in these cases, as well as genetic counselling for affected patients. Complications are directly related to increased tumour size. Treatment does not seem to have any influence on the natural history of the disease., (Copyright © 2017 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.)

Folliculocystic and collagen hamartoma (FCCH) of tuberous sclerosis is a rare entity described in 2012 by Torrelo et al. with only 8 cases described, predominantly in males. It presents since birth or early infancy and in the majority of cases is associated with tuberous sclerosis. The hamartoma presents as an exophytic plaque and has distinctive histopathological features including hair follicles, intact or ruptured epidermal cysts, and an increased number of collagen fibers extending to the subcutaneous tissue. Herein we present an additional case of this rare entity in an 18-year-old female who met clinical criteria for tuberous sclerosis. The patient had an exophytic mass in the left temporal area for many years and wanted surgical excision due to its cosmetic appearance. Histopathology of the surgical specimen showed a hamartomatous lesion with multiple large intact epidermal cysts, hairs and increased thickened collagen. The patient has followed up for 1 year after the excision, with no recurrence. Additionally, we provide a literature review of known cases of FCCH as well as its clinical and histopathological differential diagnosis., (© 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients. We report the case of a 45-year old female patient followed for a neurofibromatosis type 1 retained on the presence of multiple cutaneous café-au-lait spots and neurofibromas. Ophthalmologic examination showed visual acuity of 10/10 P3 in both eyes. Biomicroscopic examination showed Lisch nodules of the iris in both eyes (A,B).

Purpose: To detect, describe, and classify the morphologic characteristics of astrocytic hamartomas in tuberous sclerosis complex, using both spectral-domain optical coherence tomography (OCT) and infrared images., Methods: Ten subjects (20 eyes) with tuberous sclerosis complex underwent a complete ophthalmologic examination and multimodality imaging with spectral-domain OCT and infrared images. The imaging protocol included a 30°scan angle of the posterior pole and of the four quadrants. Line scans, detail, raster, and posterior pole patterns were used. The identified astrocytic hamartomas were described and characterized qualitatively and quantitatively., Results: Forty-four hamartomas were detected in 8 patients. In five cases, lesions were bilateral. Thirty of these hamartomas had not been revealed by previous ophthalmoscopy. Through multimodality imaging, it was possible to define multiple lesions with characteristic optical reflective qualities. All the 44 hamartomas were measured and morphologically characterized in terms of the type of tumor, retinal and/or vitreous involvement, calcifications, and posterior optical shadowing., Conclusion: The combined imaging with spectral-domain OCT and infrared images improves the detection of hamartomas if compared with the spectral-domain OCT technique alone. Moreover, a new subtype of hamartoma is proposed to complete a previous classification based on OCT.

A man aged 65 years presented with symptomatic anaemia without overt gastrointestinal bleeding. An oesophagogastroduodenoscopy (EGD) was performed and he was found to have a large ulcerated pedunculated Brunner's gland hamartoma in the duodenal bulb. The polyp was resected using snare cautery in forward and retroflexed positions. Colonoscopy was also performed and a few diminutive polyps were resected. A year later, the patient returned for a surveillance EGD, and no residual polyp was noted. Haemoglobin and iron studies normalised within a few months after polypectomy, with resolution of symptoms., (2017 BMJ Publishing Group Ltd.)

Background: Chest wall mesenchymal hamartoma (CWH) is a distinct and extremely rare tumor-like lesion of the thorax. It usually presents in the neonatal period or in infancy. The common presentation is in the form of a visible chest wall mass with or without respiratory distress., Case Presentation: A 42-year-old man with a history of chest wall trauma since 5 years ago was admitted with a swelling of the anterior of the chest wall and during this period has grown slowly. Physical examination showed a left anterior chest wall deformity. Chest radiographs and chest CT showed a left anterolateral chest wall mass involving the fourth and fifth ribs. Thoracotomy was performed. The tumor and involved ribs were resected with a 5cm safe margin. The histopathologic examination showed hamartoma. The patient has been fallowed up since 60 month ago, and has not had any complaints in this time., Result: Despite the rarity of chest wall hematoma, this side effect must always be taken into consideration while studying the chest wall injuries especially in the case of trauma history due to other differential diagnosis and her side effects such as respiratory problems., Conclusion: Although rare, this condition ought to be kept in mind while dealing with hamartoma Chest wall following trauma in order to avoid its complications such as respiratory problems. Surgical excision is usually curative in combination with conservative therapy if possible., Competing Interests: • Conflict of interest: none declared.

Peutz-Jeghers syndrome (SPJ) is characterized by intestinal hamartomatous polyps in association with mucocutaneous lentiginosis. Patients are exposed to mechanical and bleeding complications. It is a cancer predisposition syndrome. Our study highlights the diagnostic criteria for Peutz-Jeghers syndrome (SPJ), the complications and the therapeutic progresses in patient care. We report the case of a 32-year-old male presenting with a massive melaena. It was hospitalized in the surgical intensive care unit with hypovolemic shock difficult to control. This required surgical intervention to stop bleeding. We found a hamartomatous polyps in the small intestine which caused bleeding. Peutz Jeghers Syndrome was diagnosed on the basis of labial lentigines during childhood. Clinical and paraclinical explorations did not reveal the presence of cancer. In Madagascar, this disease is still poorly understood. In the literature, the diagnosis of Peutz Jeghers syndrome is based on clinical findings or on the presence of complications such as haemorrhage, invagination or bowel obstruction. In our case, the disease was complicated by gastrointestinal bleeding with hypovolemic shock. Endoscopic polypectomy using double-balloon enteroscopy can reduce emergency small bowel surgery. Peutz-Jeghers syndrome is a rare disease. Despite this, it is important for clinicians to know it and to take it into consideration in case of gastrointestinal bleeding.

Respiratory epithelial adenomatoid hamartoma (REAH) is a rare benign lesion that affects the nasal cavity and paranasal sinuses. We present 4 cases of REAH that involved the olfactory clefts; 1 case was bilateral. Each of the cases was treated surgically, and no recurrence was observed. Most reports have indicated that REAH occurs in the presence of sinonasal inflammation, particularly nasal polyposis, yet all 4 of our cases occurred in the absence of concurrent rhinosinusitis. This suggests that the etiology of REAH is multifactorial. In addition, we review the literature on REAH, and we discuss its presentation, differential diagnosis, radiology, histopathology, and underlying treatment principles.

Tuberous sclerosis complex (TSC) is a genetic disorder with multisystem involvement that is due to autosomal-dominantly inherited or sporadic mutations in TSC1 and TSC2 genes. Involvement of the gastrointestinal tract is rare. We report the case of a 51-year-old woman with diagnosis of TSC established by genetic testing, who presented with colorectal hamartomatous polyposis. Multiple small polyps were found scattered through the left colon and rectum. Histology revealed a distinct spindle cell proliferation in the lamina propria, originating from the muscularis mucosae. The cells lacked atypia or mitotic activity and were diffusely positive for smooth muscle actin and negative for S100 protein. Genetic testing proved a disease causing frameshift mutation in the TSC1 gene. Although gastrointestinal involvement is rare in TSC, hamartomatous polyps can be the initial manifestation of this syndrome. Genetic testing should be considered in every case for which TSC is clinically suspected., (Copyright © 2015 Elsevier GmbH. All rights reserved.)

Eccrine angiomatous hamartoma (EAH) is a rare, benign hamartoma of eccrine and vascular components that predominantly affects children. Growth is typically commensurate with the child's growth. Herein we report an additional case of this rare entity that enlarged after trauma in a 7-year-old girl., (© 2015 Wiley Periodicals, Inc.)

This is a case report of a 15-year-old boy with multiple small peripapillary white growths in the right eye in the setting of gyrate atrophy. Over 3 years of follow-up, these lesions became more clearly delineated as astrocytic hamartomas of the retina and optic disc. In the setting of gyrate atrophy, astrocytic hamartomas are extremely rare. This report represents the second published case and includes characterization of these tumors using spectral-domain optical coherence tomography., (Copyright 2015, SLACK Incorporated.)

The hamartomatous polyps in Peutz-Jeghers syndrome may have malignant potential. To differentiate between hamartomatous and adenomas polyps, vascular characterization can be assessed using noninvasive procedures, such as contrast-enhanced ultrasound (CEUS). The neo-angiogenic characteristics of colorectal adenomas and carcinomas are expressed as an anarchic vascular pattern observed on CEUS. Using CEUS in a patient with Peutz-Jeghers syndrome, we describe for the first time the vascularization of a hamartomatous colonic polyp that exhibits a hierarchy branching pattern.

Introduction: Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine, but can also occur in the stomach and large bowel. Gastric polyps usually coexist with hamartomatous polyps in other locations of the gastro-intestinal tract. We present the second case reported in literature of diffuse gastric polyposis without affecting the rest of the gastrointestinal tract., Case Report: A 41-years-old woman complained of repeated, self-limited episodes of hematemesis. She presented with anaemia. An upper gastrointestinal endoscopy revealed multiple polyps in all the gastric surface, whose biopsy diagnosed of hamartomatous polyps. No other polyps were detecting the gastrointestinal tract. The patient underwent a total gastrectomy with Roux-en-Y reconstruction. Pathology revealed a gastric diffuse hamartomatous polyposis. A mis-sense mutation encoding the serine/threonine kinase STK11 gene was been identified, compatible with Peutz Jeghers polyposis., (Copyright© Acta Chirurgica Belgica.)

Nasal chondromesenchymal hamartoma (NCMH) is a rare nasal tumor that typically presents in young children. We previously reported on NCMH occurrence in children with pleuropulmonary blastoma (PPB), a rare pulmonary dysembryonic sarcoma that is the hallmark neoplasm in the PPB-associated DICER1 tumor predisposition disorder. Original pathologic materials from individuals with a PPB, PPB-associated tumor and/or a DICER1 mutation were centrally reviewed by the International PPB Registry. Paraffin-embedded NCMH tumor tissue was available in three cases. Laser-capture microdissection was used to isolate mesenchymal spindle cells and cartilage in one case for Sanger sequencing of DICER1. Nine patients (5F/4M) had PPB and NCMH. NCMH was diagnosed at a median age of 10 years (range 6-21 years). NCMH developed 4.5-13 years after PPB. Presenting NCMH symptoms included chronic sinusitis and nasal congestion. Five patients had bilateral tumors. Local NCMH recurrences required several surgical resections in two patients, but all nine patients were alive at 0-16 years of follow-up. Pathogenic germline DICER1 mutations were found in 6/8 NCMH patients tested. In 2 of the patients with germline DICER1 mutations, somatic DICER1 missense mutations were also identified in their NCMH (E1813D; n = 2). Three additional PPB patients developed other nasal lesions seen in the general population (a Schneiderian papilloma, chronic sinusitis with cysts, and allergic nasal polyps with eosinophils). Two of these patients had germline DICER1 mutations. Pathogenic germline and somatic mutations of DICER1 in NCMH establishes that the genetic etiology of NCMH is similar to PPB, despite the disparate biological potential of these neoplasms.

Background: This study was designed to update clinical and imaging features as well as treatment outcomes of the nasal respiratory epithelial adenomatoid hamartoma (REAH). Data sources included case reports, original articles, and reviews published in English or French in PubMed from 1995 to date., Methods: Only published articles that met Wenig's histological criteria for the diagnosis of REAH were included., Results: REAH is not rare and is probably underdiagnosed. It is usually observed in the fifth decade of life with a 3:2 male/female predilection. REAH can be represented in two forms: as an isolated lesion (less frequent) or in association with an inflammatory process (especially nasal polyposis). It was observed in 35-48% of patients undergoing endoscopic endonasal surgery for nasal polyposis. Its origin is found, in most cases, in the olfactory cleft, which is exhibited on computed tomography (CT) scans by widened opacified olfactory clefts without bone erosion. Resection of REAH from the olfactory clefts does not worsen, but instead, can improve the sense of smell after surgery., Conclusion: Looking for REAH on CT scans and during endoscopic examination can lead to its diagnosis and help avoid aggressive surgical procedures and their complications. Endoscopic resection is the treatment of choice. The removal of REAH constitutes a specific surgery on the olfactory clefts, which can improve nasal obstruction as well as sense of smell. Whether REAH can be defined as a hamartoma, an inflammatory reactive process, or a neoplastic lesion remains to be determined.

Neurofibromatosis 1 is a complex inherited neurocutaneous disease that is often difficult to diagnose early because of its age-dependent presentation. The diagnosis is also extremely difficult to communicate to patients and their parents because of the disease's clinical variability, unpredictable evolution, and uncertain prognosis. Since 1988, the year of publication of the last Consensus Conference statement concerning the diagnosis of neurofibromatosis 1, our understanding of the disease has naturally increased and, in addition to the availability of increasingly precise molecular analyses, some new clinical signs have been reported such as anaemic nevi, unidentified bright objects, choroidal hamartomas, and a typical neuropsychological phenotype. We critically review the current diagnostic criteria, and suggest the addition of new signs on the basis of published findings and our own clinical experience. This proposal aims to improve diagnostic power in paediatric age, securing a better and more reliable healthcare transition toward adult age. We finally recommend a new Consensus Conference in order to revise the diagnostic criteria, possibly differentiated by age of presentation., (Copyright © 2014 European Federation of Internal Medicine. Published by Elsevier B.V. All rights reserved.)

A 15-month-old boy with established branchio-otic syndrome was evaluated for decreased red reflex in the left eye. Fundus examination of left eye revealed a gray epiretinal membrane with retinal traction and ill-defined macular thickening, found on ultrasonography as a dense flat region 1.7 mm in thickness. Enhanced depth imaging optical coherence tomography revealed an epiretinal membrane with macular thickening, retinal folding, and full-thickness retinal disorganization, consistent with combined hamartoma of the retina and retinal pigment epithelium. Over 5 years of follow-up, the branchio-otic syndrome was unchanged and the combined hamartoma remained stable., (Copyright © 2014 American Association for Pediatric Ophthalmology and Strabismus. Published by Mosby, Inc. All rights reserved.)

The pathogenic mechanism responsible for congenital pseudarthrosis of the tibia (CPT) is not well understood although the possibility of double inactivation of the neurofibromatosis type 1 (Nf1) gene has been suggested. In the present study, loss of heterozygosity was investigated in fibrous hamartoma tissues harvested from 16 patients with CPT associated with NF1 using four genetic markers that span the Nf1 gene. Based on the assumption that a single cell with double inactivation of Nf1 would undergo clonal growth and cause fibrous hamartoma, we investigated clonality in fibrous hamartoma tissues by analyzing X-chromosome inactivation patterns in 11 female patients. Loss of Nf1 heterozygosity in fibrous hamartoma tissues was observed at one or two genetic markers in 4 out of the 16 patients tested. In clonality assays, 3 of 11 patients showed a clonal growth pattern, 5 a non-clonal pattern, and 3 were non-informative. These findings support that double inactivation of the Nf1 gene and subsequent clonal growth could be a pathogenic feature of the fibrous hamartoma tissue at least in some of the CPT but might not be essential requirements of CPT development., (Copyright © 2012 Orthopaedic Research Society.)

Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by tumors and hamartomas in several organs including the skin., Objective: We sought to describe a new type of complex hamartoma in patients with TSC., Methods: This was a retrospective clinical and histopathologic evaluation of 6 cases., Results: The skin lesions consisted of large, painless, infiltrated plaques that were first noticed at birth or during early infancy on the abdomen, thigh, back, or scalp. In time, the plaques became studded with numerous follicular comedo-like openings and cysts containing and draining a keratinous or purulent material. The main histopathologic features were: abundant collagen deposition in the dermis and extending into the underlying fat; concentric, perifollicular fibrosis surrounding hair follicles; and comedones and keratin-containing cysts lined by infundibular epithelium, some of which were ruptured with secondary granulomatous reaction. Five of the 6 patients had a clinical diagnosis of TSC., Limitations: Genetic testing was performed in only one patient., Conclusion: This distinctive folliculocystic and collagen hamartoma has not been recognized previously in association with TSC., (Copyright © 2011 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.)

Neurofibromatosis is a genetically-inherited disorder of the nervous system that primarily affects the development and growth of neural (nerve) cell tissues and also causes cafe-au-lait spots on the skin, dysplastic abnormalities of the skin, nervous system, bones, endocrine organs and blood vessels. The two major classifications are NF-1, a generalized form, is the commonest and affects peripheral nerve tissues and NF-2, a rare central form, affects the central nervous system. An unusual finding of oral hamartomas may occur as part of NF-1 and here we presented one such rare case of oral hamartomas in a patient with Von-Recklinghausen's disease.

Although hydrocephalus associated with NF-1 is not rare, up to now the MR imaging findings in these patients and the role of ETV in the treatment of hydrocephalus associated with NF-1 have not been investigated thoroughly. We present the MR imaging findings of hydrocephalus associated with NF-1 in 7 of 54 patients with NF-1. Although the types of obstruction were various, including aqueductal web, superior velum medullary synechia, periaqueductal/tectal hamartomas, cerebellar and pontine tegmentum hamartomas, brain stem glioma, or a combination, the presence of hamartomas was a consistent finding in patients with NF-1 with hydrocephalus. In 5 cases, 8 ETV procedures were performed and followed for up to 53 months. All children treated with ETV were shunt-free at their most recent examinations. ETV may be the primary procedure for the treatment of hydrocephalus associated with NF-1, regardless of the cause and the level of the obstruction.

We present a case of angiomyomatous hamartoma (AMH) in the popliteal region of a patient with Klippel-Trenaunay syndrome. A 14-year-old boy with a right popliteal mass and recurrent edema of the right leg was admitted to a local hospital where a diagnosis of Klippel-Trenaunay syndrome was made. Three lymph nodes in the right popliteal fossa were removed. Histopathologic examination showed angiomyomatous hamartomas. Postoperatively, the patient was followed for 6 years. He had occasional mild edema of the right leg, but no signs of inflammation or recurrence of the angiomyomas. Our case is the first reported case of angiomyomatous hamartoma in a patient with Klippel-Trenaunay (KT) syndrome.