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An. bras. dermatol ; 97(1): 45-48, Jan.-Feb. 2022. graf
Article in English | LILACS | ID: biblio-1360093


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.

Humans , Child , Skin Neoplasms , Carcinoma, Basal Cell , Mucinosis, Follicular , Hamartoma/complications , Inflammation
Medicentro (Villa Clara) ; 25(3): 522-528, 2021. graf
Article in Spanish | LILACS | ID: biblio-1340200


RESUMEN El nevo lipomatoso cutáneo superficial es un nevo o hamartoma del tejido conectivo, idiopático, caracterizado por tumoraciones lobuladas del color de la piel, únicas o múltiples, con cierta predilección por la cintura pélvica; su aparición es poco frecuente. Histológicamente se destaca la presencia de células grasas maduras localizadas ectópicamente en la dermis. Se presentó un paciente de 40 años de edad con lesión en la piel de la región glútea derecha desde niño. Al examen dermatológico presentaba lesiones papulonodulares múltiples, de color de la piel, de tamaño variable, de consistencia blanda, localizadas en la nalga derecha. Se le realizó exéresis y biopsia de piel de lesión papulonodular de mayor tamaño, con diagnóstico histopatológico de nevo lipomatoso cutáneo superficial.

ABSTRACT A superficial cutaneous lipomatous nevus is an idiopathic connective tissue nevus or hamartoma characterized by single or multiple lobulated skin-colored tumors with a certain predilection for the pelvic girdle; its appearance is rare. Histologically, the presence of mature fat cells located ectopically in the dermis stands out. We present a 40-year-old male patient with a skin lesion of the right gluteal region since he was a child. On dermatological examination, he had multiple, skin-colored, papulonodular lesions of variable size and soft consistency located on the right buttock. Exeresis and skin biopsy of a larger papulonodular lesion were performed, with histopathological diagnosis of superficial cutaneous lipomatous nevus.

Hamartoma , Lipomatosis , Nevus
An. bras. dermatol ; 96(4): 487-489, July-Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1285103


Abstract Neurofibromatosis is a common genodermatosis, whose diagnosis often involves the participation of a dermatologist. A case of a 38-year-old female patient with four café-au-lait macules and eleven neurofibromas on clinical examination is presented. Dermoscopy allowed the identification of Lisch nodules in the iris, bilaterally. The combination of these findings allowed the diagnosis of neurofibromatosis type 1, according to NIH criteria. Lisch nodules are melanocytic hamartomas of the iris, which must be evaluated through a visual augmentation method, usually employed in ophthalmology. Alternatively, dermoscopy can be used and contribute to the early diagnosis of neurofibromatosis type 1.

Humans , Female , Adult , Neurofibromatosis 1/diagnostic imaging , Hamartoma , Iris , Cafe-au-Lait Spots/diagnosis , Dermoscopy
Autops. Case Rep ; 11: e2021315, 2021. tab, graf
Article in English | LILACS | ID: biblio-1285394


Oro-facial-digital syndrome is a group of rare heterogeneous hereditary disorders characterized by abnormalities of the oral cavity, face and digits, along with varying degrees of mental retardation. Currently, Oro-facial-digital syndrome has been classified into 14 types and two additional unclassified variants have been proposed. Amongst the various variants described, Oro-facial-digital syndrome type I is the most common. We report an interesting subclinical sporadic case of Oro-facial-digital syndrome type I in a 21-year-old female patient. Interestingly, our patient presented with a few novel hitherto unreported clinical findings like midline pits in the philtrum area and a hamartomatous proliferation of tissue in the anterior maxillary alveolar gingival region. This case report highlights the importance of prudent histopathological-clinical correlation, which can direct the flow of clinical investigations leading to the detection and diagnosis of unsuspected conditions as learned in this case. We would also like to emphasize that comprehensive examination of new born for structural abnormalities of the orofacial region is crucial to early diagnosis of syndromes and subsequent referral for further evaluation and management.

Humans , Female , Adult , Palatal Neoplasms , Hamartoma , Cleft Palate , Early Diagnosis , Ciliopathies
Autops. Case Rep ; 11: e2021338, 2021. tab, graf
Article in English | LILACS | ID: biblio-1345357


Mucosal Schwann cell hamartoma (MSCH) is a rare benign neurogenic tumor characterized by pure S100p positive spindle cell proliferation. Most cases occur in the distal colon. Involvement of the gall bladder is exceedingly rare. There have been no reports of recurrence or a syndromic association with MSCH. Herein, we describe a case of MSCH of the gallbladder in a 55-year-old female patient with prior history of gastrointestinal neurofibromas who presented with abdominal pain. MR imaging revealed choledocholithiasis, gallbladder thickening, and marked biliary and pancreatic ductal dilation. The patient subsequently underwent cholecystectomy with choledochoduodenostomy. Histologic evaluation of the gallbladder showed diffuse expansion of the mucosa with S100p positive cells with spindly nuclei and indistinct cytoplasmic borders and diagnosis of MSCH of the gallbladder was rendered.

Humans , Female , Middle Aged , Schwann Cells/pathology , Gallbladder Neoplasms/pathology , Hamartoma/pathology , Neurofibroma/pathology , Neuroma
Odovtos (En línea) ; 22(1): 23-28, ene.-abr. 2020. graf
Article in English | LILACS, BBO | ID: biblio-1091502


ABSTRACT Odontomas can be detected as complex or compound variants and they rarely show the histologic characteristics of both types together. The tumor commonly associated with malocclusion, eruption disturbances and pathological anomalies, but they seldom cause bony expansion. Early detection and management of odontoma with multidisciplinary approach pose an important role to prevent disturbances associated with this common odontogenic tumor. Here we report a rare case of an odontoma which show the features of both complex and compound types and also cause bony expansion, eruption failure in an 8-year-old boy.

RESUMEN Los odontomas pueden detectarse como variantes complejas o compuestas y rara vez muestran la característica histológica de ambos tipos juntos. El tumor comúnmente se asocia con maloclusión, alteraciones de la erupción y anomalías patológicas, pero rara vez causan expansión ósea. La detección temprana y el manejo del odontoma con abordaje multidisciplinario representan un papel importante para prevenir las alteraciones asociadas con este tumor odontogénico común. Aquí presentamos un caso raro de un odontoma que muestra las características de los tipos complejos y compuestos y también causa expansión ósea, falla de erupción en un niño de 8 años.

Humans , Male , Child , Odontoma/complications , Malocclusion , Hamartoma
Rev. chil. radiol ; 26(1): 8-11, mar. 2020. ilus
Article in Spanish | LILACS | ID: biblio-1115519


Resumen: El hamartoma fibroso de la infancia (FHI) es una lesión rara de tejidos blandos en niños con morfología trifásica característica. El principal problema con estas lesiones es el diagnóstico diferencial con otras masas de tejidos blandos, en particular sarcomas, que requieren un afrontamiento clínico y terapéutico diferente. Presentamos un caso de un infante de 10 meses con un crecimiento asintomático de una masa axilar que, tras realizarse angioresonancia magnética y biopsia se confirmó el diagnóstico de FHI.

Abstract: Fibrous hamartomas of childhood (FHC) are rare soft tissue lesions in infants and young children with characteristic three-phase morphology.The main problem with these lesions is differentiating it from other soft tissue masses, in particular sarcomas, which require a different clinical and therapeutic approach. We present a case of a 10-month-old infant with asymptomatic growth of a left axillary mass that, after magnetic resonance angiography and biopsy, the diagnosis of FHC was confirmed.

Humans , Female , Infant , Soft Tissue Neoplasms/diagnostic imaging , Hamartoma/diagnostic imaging , Fibrosis , Ultrasonography, Doppler , Magnetic Resonance Angiography , Hamartoma/pathology
Annals of Dermatology ; : 159-163, 2020.
Article in English | WPRIM | ID: wpr-811080


Happle-Tinschert syndrome is a rare disease characterized by unilateral, segmentally arranged basaloid follicular hamartoma (BFH) with osseous, dental, and cerebral anomalies. Although BFH has been demonstrated to be associated with mutations in the patched gene, the genetic basis for Happle-Tinschert syndrome is still unknown. We describe a case of Happle-Tinschert syndrome in a 26-year-old female. The patient presented with unilateral skin color change to brownish papules and atrophoderma following the development of Blaschko's lines, plantar pitting, and nail dystrophy on the right side of the body. She also had scoliosis, hemihypotrophy, and dental anomalies. The skin lesions were histologically confirmed as BFHs. Next-generation sequencing of the patient's genomic DNA obtained from a peripheral blood sample identified no pathogenic mutation. This case illustrates the characteristic clinical features of Happle-Tinschert syndrome. Thus far, 14 cases of Happle-Tinschert syndrome have been reported, and we report another case of this syndrome.

Adult , DNA , Female , Hamartoma , Humans , Rare Diseases , Scoliosis , Skin , Skin Pigmentation
Autops. Case Rep ; 9(4): e2019107, Oct.-Dec. 2019.
Article in English | LILACS | ID: biblio-1023992
Arch. argent. pediatr ; 117(5): 519-522, oct. 2019. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1054975


El hamartoma mesenquimal rabdomiomatoso es una lesión cutánea rara descripta por primera vez en 1986 como "hamartoma de músculo estriado". En general, se presenta en la región de la cabeza y el cuello de los recién nacidos. En este artículo, describimos el caso de una niña de 38 días con un apéndice cutáneo congénito en la región perianal. En el examen físico, no se observaron anomalías congénitas ni otras lesiones cutáneas. En el examen histopatológico, se observó un hamartoma con fibras de músculo esquelético desorganizadas. El diagnóstico diferencial incluyó apéndice cutáneo, trago accesorio y fibroma péndulo. El hamartoma mesenquimal rabdomiomatoso se diferencia de las lesiones mencionadas debido al componente de músculo estriado. Dado que no conlleva el riesgo de recurrencia ni de transformación a neoplasia maligna, no es muy relevante diferenciarlo de estas lesiones. Sin embargo, es importante establecer el diagnóstico correcto porque aproximadamente un tercio de los casos se asocian con anomalías congénitas. Asimismo, es necesario un diagnóstico histopatológico en los niños con ubicación perianal debido a las manifestaciones clínicas similares al rabdomiosarcoma.

Rhabdomyomatous mesenchymal hamartoma is a rare dermal lesion which was first described in 1986 as "striated muscle hamartoma". It usually develops in the head and neck region of newborns. We report a 38-day-old girl with a congenital skin tag in the perianal region. Physical examination did not reveal any congenital abnormalities or other dermal lesions. Histopathological examination showed a hamartoma with disorganized skeletal muscle fibers. The differential diagnosis includes skin tag, accessory tragus and soft fibroma. Rhabdomyomatous mesenchymal hamartoma differs from the listed lesions with its striated muscle component. Since it does not carry the risk of recurrence and malignant transformation, it is not very important to distinguish it from these lesions. However, a correct diagnosis is important because approximately one third of the cases are associated with congenital anomalies. Also, histopathological diagnosis should be made in children with perianal localization due to similar clinical manifestation of rhabdomyosarcoma.

Humans , Female , Infant , Rhabdomyoma/diagnosis , Hamartoma/diagnosis , Anus Neoplasms , Rhabdomyoma/surgery , Rhabdomyoma/pathology , Hamartoma/surgery , Hamartoma/pathology
Int. j. odontostomatol. (Print) ; 13(3): 332-337, set. 2019. graf
Article in Spanish | LILACS | ID: biblio-1012432


RESUMEN: Este estudio se realizó para evaluar la presentación de cambios histopatológicos tempranos en sacos pericoronarios de terceros molares incluidos sanos. Sesenta y un tejidos pericoronarios de terceros molares incluidos, clínicamente asintomáticos y sin evidencia radiográfica de anomalía del saco pericoronario, se extrajeron por diferentes razones. Las muestras se fijaron y procesaron de forma rutinaria y se tiñeron con hematoxilina-eosina antes de la evaluación. Se estandarizaron los diagnósticos concluyendo que toda muestra que presente metaplasia escamosa del epitelio reducido del órgano del esmalte (EEE) se considerará cambio quístico temprano. De las muestras presentadas, el 28 % mostró metaplasia escamosa sugerente de cambio quístico temprano. Esta variación histológica del tejido pericoronario fue significativamente mayor en los pacientes menores de 20 años de edad, sexo femenino, terceros molares mandibulares, en inclusión ósea y en pacientes que no informaron sintomatología local previa (P = 0,05). Estos hallazgos sugieren que la ausencia de semiología clínica y radiográfica en terceros molares incluidos no necesariamente indica ausencia de alteraciones en el tejido pericoronario de los mismos.

ABSTRACT: This study was performed to evaluate the presentation of early histopathological changes in pericoronal healthy third molars. Sixty-one pericororonitis tissues third molars, without radiographic evidence of abnormality in pericoronary sack, extracted for various reasons. The samples were fixed and processed routinely and stained with hematoxylin-eosin before evaluation. Diagnostic standardized concluding that all this shows that squamous metaplasia of the reduced enamel organ (EEE) is considered cystic epithelium were early change. Of the samples submitted, 28 % showed squamous metaplasia early suggestive of cystic change. This histological tissue pericoronary variation was significantly higher in patients under 20 years of age, female gender, mandibular third molars, including in bone and in patients who reported no previous local symptoms (P = 0.05). These findings suggest that the absence of clinical and radiographic semiology third molars does not necessarily indicate the absence of alterations in tissue pericoronary thereof.

Humans , Male , Female , Child , Adolescent , Adult , Tooth Eruption , Tooth, Unerupted , Gingival Diseases/pathology , Hamartoma/pathology , Biopsy , Chile , Epidemiology, Descriptive , Connective Tissue/pathology , Diagnosis , Epithelial Cells/pathology , Informed Consent
Rev. Asoc. Odontol. Argent ; 107(1): 19-24, ene.-mar. 2019. ilus, tab
Article in Spanish | LILACS | ID: biblio-998717


La Organización Mundial de la Salud clasifica los odontomas como tumores odontogénicos benignos compuestos de epitelio odontogénico y ectomesénquima odontogénico con formación de tejido duro dental. Los odontomas, por definición, son lesiones habitualmente hamartomatosas que suelen encontrarse sobre dientes no erupcionados, compuestas de esmalte, dentina, pulpa y cemento en formas reconocibles de dientes (odontoma compuesto) o bien como una masa nudosa sólida (odontoma complejo). Algunos tumores constituyen una combinación de ambos tipos (es decir, no solo contienen estructuras múltiples de aspecto similar a un diente, sino también masas calcificadas de tejido dental dispuestas al azar). Estas lesiones se denominan odontomas complejos-compuestos. Otro tipo, el fibroodontoma ameloblástico, es un tumor infrecuente que contiene los componentes tisulares blandos del fibroma ameloblástico y los componentes de tejido duro del odontoma complejo (AU)

The World Health Organization classifies odontomas as a benign odontogenic tumor composed of odontogenic epithelium and odontogenic ectomesenchyma with dental hard tissue formation. Odontomas, by definition, are usually hamartomatous lesions, frequently found on unerupted teeth, composed of enamel, dentin, pulp and cement in recognizable forms of teeth (compound) or a solid knotty mass (complex). Some tumors constitute a combination of both types (i.e., they not only contain multiple structures similar in appearance to a tooth, but also calcified masses of dental tissue arranged at random). These lesions are called complex-compound odontomas. Another type, the ameloblastic fibro-odontoma, is an infrequent tumor that contains the soft tissue components of the ameloblastic fibroma and the hard tissue components of the complex odontoma (AU)

Humans , Odontogenic Tumors/classification , Odontoma/classification , Hamartoma , Tooth Extraction , Tooth, Impacted , Tooth, Unerupted , World Health Organization
Article in English | WPRIM | ID: wpr-719416


PTEN hamartoma tumor syndrome is a spectrum of disorders characterized by unique phenotypic features including multiple hamartomas caused by mutations of the tumor suppressor gene PTEN. Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome are representative diseases, and both have several common clinical features and differences. Because PTEN mutations are associated with an increased risk of malignancy including breast, thyroid, endometrial, and renal cancers, cancer surveillance is an important element of disease management. We report a germline mutation of the PTEN (c.723dupT, exon 7) identified in a young woman with a simultaneous occurrence of breast cancer, dermatofibrosarcoma protuberans, and follicular neoplasm. This case suggests that it is critical for clinicians to recognize the phenotypic features associated with these syndromes to accurately diagnose them and provide preventive care.

Breast , Breast Neoplasms , Dermatofibrosarcoma , Disease Management , Exons , Female , Genes, Tumor Suppressor , Germ-Line Mutation , Hamartoma , Hamartoma Syndrome, Multiple , Humans , Kidney Neoplasms , Thyroid Gland
Article in English | WPRIM | ID: wpr-762589


Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although both manifestations coexist in the majority of the children. Gelastic seizures (GS), or laughing spells, are usually the first type of seizures seen in patients with HH. Although a wide variety of seizure types are known to occur in children with HH, GS are most common and consistent seizure type. The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both CPP and seizures. Although CPP can be managed with medical therapy, seizures can be very difficult to treat, even with multiple antiepileptic drugs. Noninvasive gamma knife surgery has been used with some success for the treatment of refractory epilepsy. We present a case of HH with very early onset seizures and CPP. The patient had an atypical form of seizures described by the parents as a "trance-like state" in which the patient had prolonged episodes of unresponsiveness lasting for hours with normal feedings during the episodes. GS occurred late in the course and were refractory to various combinations of antiepileptic drugs. A brain magnetic resonance imaging showed a large sessile HH (>20 mm). Later in the course of the disease, the patient experienced cognitive and behavioural problems. The patient underwent gamma knife surgery at nearly 5 years of age and experienced a modest response in seizure frequency. This case highlights the presentation of HH as a previously unreported seizure morphology described as a prolonged "trance-like state."

Anticonvulsants , Brain , Child , Epilepsy , Hamartoma , Humans , Infant , Magnetic Resonance Imaging , Parents , Puberty, Precocious , Seizures , Tuber Cinereum
Annals of Dermatology ; : S36-S38, 2019.
Article in English | WPRIM | ID: wpr-762410


No abstract available.

Skin Abnormalities , Herpesviridae Infections , Pigmentation Disorders , Hamartoma
Annals of Dermatology ; : 662-665, 2019.
Article in English | WPRIM | ID: wpr-762390


Hair follicle nevus (HFN) is a rare, benign, follicular hamartoma that most frequently presents as a congenital nodule on the face. We experienced a rare case of HFN on the neck of a 14-year-old boy and performed a pilot immunohistochemical study with cytokeratin 19 (CK19) to compare the staining pattern of hair follicles in HFN and its differential diagnoses, accessory tragus, cervical chondrocutaneous branchial remnants (CCBR) and trichofolliculoma. With hematoxylin and eosin stain, HFN showed numerous tiny hair follicles in the dermis with several sebaceous and eccrine glands, and perifollicular fibrous thickening. With CK19 stain, some hair follicles in HFN and CCBR showed positive expression, a few hair follicles in accessory tragus showed weak expression, and no hair follicles in trichofolliculoma showed expression. The present report supports the view that HFN, accessory tragus and CCBR are within the same spectrum of hamartomas.

Adolescent , Dermis , Diagnosis, Differential , Eccrine Glands , Eosine Yellowish-(YS) , Hair Follicle , Hair , Hamartoma , Hematoxylin , Humans , Keratin-19 , Male , Neck , Nevus