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2.
Rev. argent. cir. plást ; 29(1): 38-42, 20230000. fig, tab
Article in Spanish | LILACS, BINACIS | ID: biblio-1428657

ABSTRACT

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).


Subject(s)
Humans , Female , Adult , Tuberous Sclerosis/pathology , Angiofibroma/therapy , Hamartoma/pathology , Nasal Cavity/injuries
3.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (12): 338-343, 2023.
Article in Chinese | WPRIM | ID: wpr-982745

ABSTRACT

〓 Objectives: To analyze the pathological and clinical features of nasal respiratory epithelial adenomatoid hamartoma(REAH), and summarize the diagnostic points, to improve the experience of diagnosis and treatment. Methods:The clinical data of 16 patients with REAH were analyzed retrospectively. The clinical manifestations, pathological features, imaging features, surgical treatment and prognosis were summarized. Results:16 cases of REAH were studied, 10 cases(62.50%) were associated with sinusitis, 1 case(6.25%) was associated with inverted papilloma, 1 case(6.25%) was associated with hemangioma. 5 cases(31.25%) had a history of nasal sinus surgery, including 1 case with 3 times of nasal sinus surgery, 1 case with 2 times of nasal sinus surgery, 3 cases with 1 time of nasal sinus surgery; 10 cases(62.50%) occurred in the bilateral olfactory cleft, 2 cases(12.50%) in the unilateral olfactory cleft, 3 cases(18.75%) in the unilateral middle turbinate, 1 case(6.25%) in the nasopharynx. All 16 patients were pathologically diagnosed as REAH. In the patients with lesions located in bilateral olfactory fissures, symmetrical widening of olfactory fissures and lateral displacement of middle turbinate were observed on preoperative sinus CT. The average width of bilateral olfactory fissures was (9.9±2.70) mm. The ratio of wide to narrow olfactory cleft was 1.21 ± 0.19. There was no significant difference in Lund-Mackay score between the two sides(P>0.05). All patients underwent surgery under general anesthesia and nasal endoscopy. The follow-up period ranged from 1 to 66 months, and no recurrence occurred. Conclusion:Preoperative diagnosis of REAH is facilitated by the combination of clinical manifestations and endoscopic and imaging features. Endoscopic complete resection can achieve a good therapeutic effect.


Subject(s)
Humans , Nasal Polyps/complications , Retrospective Studies , Paranasal Sinuses/pathology , Adenoma , Endoscopy/methods , Hamartoma/surgery
4.
Chinese Journal of Medical Genetics ; (6): 92-95, 2023.
Article in Chinese | WPRIM | ID: wpr-970885

ABSTRACT

OBJECTIVE@#To explore the clinical and genetic characteristics of a child with Pallister-Hall syndrome (PHS).@*METHODS@#DNA was extracted from peripheral blood sample from the child and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#Genetic testing revealed that the child has harbored a heterozygous c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) variant of the GLI3 gene. Neither parent was found to carry the same variant.@*CONCLUSION@#The c.3320_3330delGGTACGAGCAG (p.G1107Afs×18) frameshift variant of the GLI3 gene probably underlay the pathogenesis of PHS in this child. Genetic testing should be considered for patients featuring hypothalamic hamartoma and central polydactyly.


Subject(s)
Humans , Child , Pallister-Hall Syndrome/genetics , Kruppel-Like Transcription Factors/genetics , Zinc Finger Protein Gli3/genetics , Polydactyly/genetics , Hamartoma/pathology , Nerve Tissue Proteins/genetics
5.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (12): 993-997, 2023.
Article in Chinese | WPRIM | ID: wpr-1011087

ABSTRACT

Laryngeal hamartoma is a benign proliferative tumor-like lesion that occurs in the larynx. A case of supraglotic laryngeal hamartoma admitted by our department and 12 cases of laryngeal hamartoma reported in literature were retrospectively analyzed, the pathogenesis, clinicalmanifestation, diagnosis, treatment and prognosis of laryngeal hamartoma was explored, aiming to improve the understanding and diagnosis and treatment.of this disease.


Subject(s)
Humans , Child , Retrospective Studies , Larynx/pathology , Laryngoscopy , Prognosis , Hamartoma , Laryngeal Neoplasms/surgery
6.
Journal of Clinical Otorhinolaryngology Head and Neck Surgery ; (12): 964-971, 2023.
Article in Chinese | WPRIM | ID: wpr-1011080

ABSTRACT

Objective:To investigate the clinical manifestations and treatment of laryngopharynx hamartoma in children. Methods:The clinical data of a child with piriform sinus hamartoma treated in our hospital were analyzed retrospectively. The age, gender, clinical manifestations, auxiliary examination, location of the tumor and surgical methods were analyzed. Results:The patient had a good prognosis after surgery, and no tumor recurrence was found after 1 year of follow-up. Conclusion:Laryngopharynx hamartoma is rare in children. It should be considered in children with laryngeal dysfunction and upper airway obstruction. Complete resection of the tumor is the key to postoperative recurrence.


Subject(s)
Child , Humans , Male , Female , Hamartoma/surgery , Larynx/pathology , Neoplasm Recurrence, Local/pathology , Pyriform Sinus/pathology , Retrospective Studies
7.
Med. lab ; 27(1): 45-49, 2023. ilus
Article in Spanish | LILACS | ID: biblio-1413090

ABSTRACT

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


Subject(s)
Humans , Female , Adolescent , Apocrine Glands , Sweat Gland Diseases/diagnosis , Hamartoma/diagnosis , Apocrine Glands/pathology , Sweat Gland Diseases/pathology , Hamartoma/pathology , Nevus
8.
Clin. biomed. res ; 43(1): 86-89, 2023.
Article in English | LILACS | ID: biblio-1436236

ABSTRACT

Lipofibromatous hamartoma (LFH) is a rare fibrofatty tumor of adipocytes within peripheral nerves, affecting mainly children. It typically presents as a palpable mass surrounding the nerves of the upper limbs, causing pain and neurological deficits in the affected nerve distribution. We report the case of a child with a 2-years presentation of a mass in the right wrist associated with pain and paresthesia, who underwent investigation with magnetic resonance imaging (MRI). It showed thickening of the median nerve with spaghetti-like appearance associated with lipomatous tissue in a coaxial cable-like pattern, both features characteristic of LFH. This case illustrates the importance of MRI in the differential diagnosis of limb masses in the pediatric population.


Subject(s)
Humans , Child , Median Neuropathy/diagnostic imaging , Fibroma/diagnostic imaging , Hamartoma/diagnostic imaging , Median Neuropathy/therapy , Fibroma/therapy , Hamartoma/therapy , Lipoma/therapy , Lipoma/diagnostic imaging
9.
J. coloproctol. (Rio J., Impr.) ; 42(2): 190-192, Apr.-June 2022. ilus
Article in English | LILACS | ID: biblio-1394415

ABSTRACT

Retrorectal hamartoma, also called tailgut cyst, is a congenital lesion resulting from the non-regression of embryo remnants of the hindgut. We describe in this work the case report of a 68-year-old man, previously healthy, complaining of rectal bulging for 4 months, which was diagnosed by nuclear magnetic resonance imaging as a multi-loculated and mucinous lesion, suggestive of tailgut cyst. In view of the finding, the lesion was surgically resected, due to the potential for future complications, and, through the anatomopathological analysis, there were no findings of malignancy in the specimen. (AU)


Subject(s)
Humans , Male , Aged , Rectal Diseases/diagnostic imaging , Hamartoma/diagnostic imaging , Rectal Diseases/surgery , Magnetic Resonance Imaging , Hamartoma/surgery
10.
An. bras. dermatol ; 97(1): 45-48, Jan.-Feb. 2022. graf
Article in English | LILACS | ID: biblio-1360093

ABSTRACT

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.


Subject(s)
Humans , Child , Skin Neoplasms , Carcinoma, Basal Cell , Mucinosis, Follicular , Hamartoma/complications , Inflammation
11.
Surg. cosmet. dermatol. (Impr.) ; 14: 2022;14:e20220152, jan.-dez. 2022.
Article in Portuguese | LILACS | ID: biblio-1412346

ABSTRACT

O hamartoma folicular basaloide (HFB) é um tumor anexial raro e benigno, que se assemelha ao carcinoma basocelular (CBC), e pode apresentar manifestações clínicas diversas. Uma mutação no gene PTCH, envolvido na síndrome de Gorlin-Goltz, poderia estar associada à patogênese dessa neoplasia. Descreve-se caso de menina, sete anos, apresentando múltiplas pápulas na face.


Basaloid follicular hamartoma (BFH) is a rare and benign adnexal tumor that resembles basal cell carcinoma (BCC) and may present with different clinical manifestations. A mutation in the PTCH gene, involved in Gorlin-Goltz syndrome, could be associated with the pathogenesis of this neoplasm. We describe the case of a 7-year-old girl with multiple papules on her face.


Subject(s)
Humans , Female , Child , Facial Dermatoses/diagnosis , Hamartoma/diagnosis , Immunohistochemistry , Facial Dermatoses/pathology , Hamartoma/pathology
12.
Chinese Journal of Pathology ; (12): 207-211, 2022.
Article in Chinese | WPRIM | ID: wpr-935506

ABSTRACT

Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of ectopic meningothelial hamartoma (EMH). Methods: Three cases of EMH diagnosed in the First Affiliated Hospital of Nanjing Medical University from January 2014 to December 2020 were enrolled. All cases were evaluated by clinical and imaging features, HE and immunohistochemical staining, and the relevant literature was reviewed. Results: There were one male and two female patients, aged 2, 67 and 19 years, respectively. Clinically, they presented as skin masses in the head and face region (two cases) and sacro-coccygeal region (one case). Grossly, the lesions ranged in size from 1.6 cm to 8.9 cm. Microscopically, the lesions were ill-defined, and located in the dermis and subcutis, and showed pseudovascular channels lined by monolayer of cuboidal to flattened epithelium with mild atypia, with variable cystic cavity formation. There was prominent interstitial fibrosis. Concentric, lamellated, onion skin-like arrangement with short spindle or ovoid cells and psammoma bodies were noted. Immunohistochemically, these cells were strongly positive for SSTR2, EMA, vimentin and progesterone receptor. Ki-67 positive index was low, approximately 1%. Conclusions: EMH is uncommon. Definitive diagnosis relies on histopathologic examination. The importance in recognizing the lesions is to differentiate from other more aggressive tumors.


Subject(s)
Female , Humans , Male , Choristoma/pathology , Diagnosis, Differential , Hamartoma/pathology , Meninges , Skin Diseases/pathology
13.
Journal of Central South University(Medical Sciences) ; (12): 529-534, 2022.
Article in English | WPRIM | ID: wpr-928998

ABSTRACT

The clinical data for a patient with primary lung adenocarcinoma complicated with pulmonary hamartoma, who admitted to Zunyi Medical University Hospital in September 2020, was retrospectively analyzed. The 62-years-old male visited outpatient service because of dysphagia in March 2015, and the pulmonary nodules were found. In September 2020, the computed tomography indicated the enlarged nodule in the lower lobe of left lung with lobulation, and there was ground glass nodule in the upper lobe of left lung. After thoracoscopic wedge surgery, the primary pulmonary adenocarcinoma in the upper lobe of left lung and pulmonary hamartoma in the lower lobe of left lung were confirmed by pathology. Whole exon sequencing revealed that kinesin family member 20B (KIF20B) gene was not expressed in lung adenocarcinoma, but was expressed in pulmonary hamartoma. The clinical manifestations of lung adenocarcinoma complicated with pulmonary hamartoma was not typical, which could locate in the same side and different sides of the lung. The imaging manifestations of the 2 kinds of tumors were diverse and can not be completely distinguished. The pathological examination after surgery is the gold standard, and the possibility of malignant transformation of pulmonary hamartoma should be warned.


Subject(s)
Humans , Male , Middle Aged , Adenocarcinoma of Lung/complications , Hamartoma/surgery , Kinesins , Lung/pathology , Lung Neoplasms/surgery , Retrospective Studies
14.
Int. j. morphol ; 40(4): 990-994, 2022. ilus, tab
Article in English | LILACS | ID: biblio-1405262

ABSTRACT

SUMMARY: Neuroendocrine lung tumours are a group of different tumours that have similar morphological, immunohistochemical and molecular characteristics, and represents 1-2 % of all malignant lung tumours. Tumorlet carcinoids represent the nodular proliferation of hyperplastic neuroendocrine cells that is smaller than 5 mm in size. In this study, we reported the unusual finding of tumour carcinoid and endobronchial hamartoma in the same bronchus. A 49-year-old male patient with symptoms of prolonged severe cough and fever, and was treated for pneumonia. Since he did not adequately respond to antibiotic therapy lung CT scan was performed which showed middle lobe bronchus obstruction. Bronchoscopy revealed a lobulated whitish tumour which was biopsied and histopathological diagnosis was hamartoma. Tumour could not be completely removed during bronchoscopy, it was decided to surgically remove it. On serial section, during gross examination in the same bronchus, an oval yellowish area with a diameter of 3 mm was found along the bronchial wall. According to gross and histomorphological characteristics and immunophenotype of tumour cells, the diagnosis of tumour carcinoid was set. Diagnosis of carcinoids of the tumorlet type is usually an accidental finding and it can be seen on CT in the form of subcentimeter, single or multiple, nodular changes. Considering that the clinical picture is nonspecific, they should always be kept in mind as a possible differential diagnosis.


RESUMEN: Los tumores neuroendocrinos de pulmón son un grupo de tumores de diferentes características morfológicas, inmunohistoquímicas y moleculares similares, y representan el 1- 2 % de todos los tumores malignos de pulmón. Los carcinoides tumorales representan la proliferación nodular de células neuroendocrinas hiperplásicas de tamaño inferior a 5 mm. En este estudio reportamos el hallazgo inusual de tumor carcinoide y hamartoma endobronquial en el mismo bronquio. Un paciente varón de 49 años con síntomas de tos severa prolongada y fiebre fue tratado por neumonía. Al no responder adecuadamente a la terapia con antibióticos, se realizó una tomografía computarizada de pulmón que mostró obstrucción del bronquio del lóbulo medio. La broncoscopia reveló una tumoración blanquecina lobulada de la cual se tomó biopsia y el diagnóstico histopatológico fue hamartoma. No fue posible extirpar el tumor por completo durante la broncoscopia y se decidió extirparlo quirúrgicamente. En la sección seriada, durante el examen macroscópico en el mismo bronquio, se encontró un área amarillenta ovalada de 3 mm de diámetro a lo largo de la pared bronquial. De acuerdo a las características macroscópicas e histomorfológicas y de inmunofenotipo de las células tumorales, se estableció el diagnóstico de tumor carcinoide. El diagnóstico de carcinoides de tipo tumorlet suele ser un hallazgo accidental y se observan en la TC en forma de cambios nodulares subcentimétricos, únicos o múltiples. En consideración de que el cuadro clínico es inespecífico, siempre debe tenerse en cuenta como posible diagnóstico diferencial.


Subject(s)
Humans , Male , Middle Aged , Bronchial Neoplasms/pathology , Carcinoid Tumor/pathology , Hamartoma/pathology , Bronchial Neoplasms/diagnosis , Bronchoscopy , Carcinoid Tumor/diagnosis , Hamartoma/diagnosis
15.
Medicentro (Villa Clara) ; 25(3): 522-528, 2021. graf
Article in Spanish | LILACS | ID: biblio-1340200

ABSTRACT

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.


Subject(s)
Hamartoma , Lipomatosis , Nevus
16.
An. bras. dermatol ; 96(4): 487-489, July-Aug. 2021. tab, graf
Article in English | LILACS | ID: biblio-1285103

ABSTRACT

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.


Subject(s)
Humans , Female , Adult , Neurofibromatosis 1/diagnostic imaging , Hamartoma , Iris , Cafe-au-Lait Spots/diagnosis , Dermoscopy
17.
Rev. chil. dermatol ; 37(3): 84-87, 2021. ilus
Article in Spanish | LILACS | ID: biblio-1417159

ABSTRACT

El esteatocistoma es un hamartoma quístico de la porción media de las unidades folículo sebáceas que afecta principalmente el ducto sebáceo. Comúnmente se encuentra de manera múltiple y se transmite en forma autosómica dominante; en algunos casos se presenta en un contexto no familiar y en otros puede ser solitario. La primera descripción del esteatocistoma múltiple (EM) muy probablemente corresponde a Jamieson en 1873. La forma solitaria de esteatocistoma fue descrito por primera vez en 1982 por Brownstein y existen pocos casos descritos en la literatura Presentamos un caso clínico de paciente varón joven con tumoración solitaria en cuero cabelludo que fue extirpado cuyo resultado histopatológico fue de esteatocistoma solitario.


Steatocystoma is a cystic hamartoma of the middle portion of the sebaceous follicular units that mainly affects the sebaceous duct. It commonly presents in multiple forms and is transmitted in an autosomal dominant manner; in some cases, it occurs in a non-familial context and in others it may be solitary. The first description of steatocystoma multiplex (MS) is most likely by Jamieson in 1873. The solitary form of steatocystoma was first described in 1982 by Brownstein and there are few cases described in the literature. We present a clinical case of a young male patient with a solitary tumor on the scalp that was excised and whose histopathological result was solitary steatocystoma.


Subject(s)
Humans , Male , Middle Aged , Skin Diseases/diagnosis , Skin Diseases/pathology , Epidermal Cyst/diagnosis , Epidermal Cyst/pathology , Scalp , Skin Diseases/surgery , Epidermal Cyst/surgery , Hamartoma/diagnosis
18.
Autops. Case Rep ; 11: e2021338, 2021. tab, graf
Article in English | LILACS | ID: biblio-1345357

ABSTRACT

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.


Subject(s)
Humans , Female , Middle Aged , Schwann Cells/pathology , Gallbladder Neoplasms/pathology , Hamartoma/pathology , Neurofibroma/pathology , Neuroma
19.
Autops. Case Rep ; 11: e2021315, 2021. tab, graf
Article in English | LILACS | ID: biblio-1285394

ABSTRACT

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.


Subject(s)
Humans , Female , Adult , Palatal Neoplasms , Hamartoma , Cleft Palate , Early Diagnosis , Ciliopathies
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