scholarly journals Dohi's Reticulated Acropigmentation: a Case Report

10.3823/2544 ◽  
2018 ◽  
Vol 11 ◽  
Author(s):  
Adriana Kamilly Leitão Pitman Machado ◽  
Danielle Oliveira Sousa ◽  
Miguel Saraty de Oliveira ◽  
Débora Bacellar Cruz Nunes ◽  
Michelle Fonseca Goiabeira ◽  
...  
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Female Patient ◽  
Clinical Data ◽  
Clinical Condition ◽  
Autosomal Dominant ◽  
Dorsal Surface ◽  
Histopathological Findings ◽  
High Penetrance

Background: Dohi's Reticulated Acropigmentation is a rare autosomal dominant genodermatosis with high penetrance, characterized by small, irregular, hypo and hyperpigmented macules on the dorsal surface of the distal extremities. Case: The authors report a case of Dohi’s Reticulated Acropigmentation in a 61 years old female patient. The patient complained of spots on hands, feet and posteriorly face involvement since she was 7 years old. Conclusion: Dohi's Reticulated Acropigmentation is a rare clinical condition, which usually appear in childhood and commonly interrupt their onset before adolescence. The diagnosis is based on clinical data, physical examination and histopathological findings. The treatment is unsatisfactory and still no therapy is proposed.

A Case Report on Effective Management of Artavadushti with Vandhyatwa by Ayurveda Regimen

The Healer ◽  
2021 ◽  
Vol 2 (02) ◽  
pp. 102-105
Author(s):  
Khushboo Jha ◽  
Kajal Jha ◽  
K. Bharathi ◽  
Sonu Verma
Keyword(s):  
Health Care ◽  
Case Report ◽  
Physical Examination ◽  
Female Patient ◽  
Effective Management ◽  
Detailed History ◽  
Normal Duration ◽  
Laboratory Investigations ◽  
Physical And Chemical ◽  
Hormonal Analysis

ABSTRACT: A  female  patient  of  25  years  of  age  came  to  OPD  of Arogyam Health Care on 15\5\2076 B.S. with complaints of want issue since 3 years. She had not achieved her menses since 3 months and her menstruation was irregular since menarche. Methodology:  Detailed  history  with  all  necessary  clinical,  physical  examination  and laboratory  investigations  were  carried  out.  No gross physical and chemical abnormality was found. All the laboratory investigations (including USG and hormonal analysis) were found to be normal. So the treatment was planned according to the symptoms. Diagnosis made on the basis on the basis of presenting complaints was Vandhaytwa.  Patient was treated with Arogyavardhi vati, Dashmoolarista, Kanchanar guggulu, Matra vasti and nasya with Mahanarayan taila, Bandhyaharan churna and Aswagandha churna. Patient was kept on follow. Result: Patient had got her menstruation regularly with normal duration while taking medicine.  Also  the  amount  of  flow  was  also  improved  and the patient got conceived.  Keywords: Vandhyatwa, Vasti, Nasya, Arogyavardhini vati, Dashmoolarishta

scholarly journals Mosaic epidermolytic ichthyosis - case report

2013 ◽  
Vol 88 (6 suppl 1) ◽  
pp. 116-119 ◽  
Author(s):  
Marcela Sena Teixeira Mendes ◽  
Samara Silva Kouzak ◽  
Thaissa Araújo Aquino ◽  
Gustavo Henrique Soares Takano ◽  
Antonio de Padua Lima
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
The Other ◽  
Autosomal Dominant Disease ◽  
Epidermolytic Ichthyosis ◽  
Dominant Disease ◽  
Mosaic Form ◽  
Two Populations ◽  
Rare Autosomal Dominant Disease

Epidermolytic ichthyosis is a rare autosomal dominant disease that manifests at birth with fragile blisters and erosions that evolve into hyperkeratotic lesions associated or not with erythroderma. When the disease is associated with a mutation in cytokeratin 1, it may be related to hyperkeratosis of palms and soles, but this is not usually found when cytokeratin 10 is mutated. The disease can present in a mosaic form, due to post zygotic mutation of the gene involved, constituting an individual formed by two populations of genetically distinct cells - one carrier of the mutation and the other without it. We report a case of mosaic epidermolytic ichthyosis diagnosed in a female patient.

scholarly journals Do you know this syndrome?

2013 ◽  
Vol 88 (3) ◽  
pp. 473-475 ◽  
Author(s):  
Laura Maria Andrade Silveira ◽  
Andreia Nogueira Ramos ◽  
Isadora Rosado do Amaral ◽  
Vitoria Regina Pedreira de Almeida Rego
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Congenital Abnormalities ◽  
Clinical Presentation ◽  
Current Knowledge ◽  
Genetic Disorder ◽  
Mucous Membranes ◽  
Form Part

Congenital Hypertrichosis Lanugionsa is a rare autosomal dominant genetic disorder, with fewer than 50 cases reported in the literature. It is characterized by excessive lanugo hair, sparing only the mucous membranes, palms and soles. It may be associated with other organic abnormalities and should form part of the dermatologist's current knowledge. We discuss some aspects of the syndrome in question arising from the case report of a 2-year-old female patient, black, with classic clinical presentation, with no other associated congenital abnormalities.

scholarly journals Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report

2013 ◽  
Vol 2013 ◽  
pp. 1-8
Author(s):  
Priyanka Kant ◽  
Neelkamal Sharda ◽  
Rahul R. Bhowate
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Type Ii ◽  
Radiological Findings ◽  
Erlenmeyer Flask ◽  
Radiographic Features ◽  
Autosomal Dominant Osteopetrosis

Osteopetrosis is a rare inherited genetic disease characterized by sclerosis of the skeleton caused by the absence or malfunction of osteoclasts. Three distinct forms of the disease have been recognized, autosomal dominant osteopetrosis being the most common. Autosomal dominant osteopetrosis exhibits a heterogeneous trait with milder symptoms, often at later childhood or adulthood. The aim of this case report is to present the clinical and radiographic features of a 35-year-old female patient with autosomal dominant osteopetrosis type II who exhibited features of chronic generalised periodontitis, and the radiographs revealed generalised osteosclerosis and hallmark radiographic features of ADO type II, that is, “bone-within-bone appearance” and “Erlenmeyer-flask deformity.”

scholarly journals PeutzJeghers syndrome: A case report and literature review

2014 ◽  
Vol 4 (8) ◽  
pp. 677-679
Author(s):  
A Lakhey ◽  
H Shakya
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Physical Examination ◽  
Rectal Bleeding ◽  
Buccal Mucosa ◽  
Autosomal Dominant ◽  
Hamartomatous Polyps ◽  
Pigmented Lesions ◽  
History Of ◽  
Peutz Jeghers Syndrome

Peutz–Jeghers Syndrome is an autosomal dominant inheritedhamartomatous polyp. We present a case of a 5-year-old young boywith a history of per rectal bleeding and mass protruding out of the anus. Physical examination revealed presence of mucocutaneous pigmented lesions over the tongue, and few hamartomatous polyps protruding out of the rectum suggesting Peutz–Jeghers syndrome. The presence in early infancy of small, well-demarcated and dark-brown to blue-black lentigines on the lips,buccal mucosa and perioral skin, should alert the clinician to Peutz–Jeghers Syndrome.DOI: http://dx.doi.org/10.3126/jpn.v4i8.11597 Journal of Pathology of Nepal; Vol.4,No. 8 (2014) 677-679

scholarly journals Inherited Epidermolysis Bullosa – A Case Report of Several Family Members in Three Generations

2018 ◽  
Vol 10 (1) ◽  
pp. 12-17
Author(s):  
Ljuba Vujanović ◽  
Marina Jovanović ◽  
Zoran Golušin ◽  
Svetlana Kovačić Dukić ◽  
Sanja Jakovljević ◽  
...  
Keyword(s):  
Case Report ◽  
Female Patient ◽  
Epidermolysis Bullosa ◽  
Autosomal Dominant ◽  
Dorsal Plate ◽  
Nail Dystrophy ◽  
Three Generations ◽  
The Family ◽  
Inherited Epidermolysis Bullosa ◽  
Atrophic Scars

Abstract Inherited epidermolysis bullosa (IEB) is a genodermatosis transmitted in either autosomal dominant or autosomal recessive manner. The disease is characterized by the development of blisters, erosions, scars, nail dystrophy and scalp abnormalities. Our case report has included four members of one family in three generations with manifested disease. Our 25-year-old female patient presented with a few eroded, crusted, nummular lesions localized on the dorsal plate of interphalangeal joints of fingers, elbow and knee skin, while anonychia was found on her digits. Our youngest patient (her 3.5-year-old son) presented with the lesions in the form of blisters filled with serous fluid, erosions, recent scars and atrophy. Some atrophic scars on the elbow and knee skin were found in our patient′s younger brother, aged 16. The 46-year-old mother of our female patient had nail dystrophy on her hands accompanied by the toenails absence. Pediatric geneticist created the pedigree chart which showed autosomal dominant inheritance pattern with complete expressivity and penetrance. Further diagnostics was not done because the family was not interested.

scholarly journals Gambaran radiografi impaksi ektopik molar tiga disertai kista dentigerous dalam sinus maksilaris pada radiograf CBCT 3D

2019 ◽  
Vol 3 (2) ◽  
pp. 11
Author(s):  
Nova Rosdiana ◽  
Farina Pramanik
Keyword(s):  
Case Report ◽  
Physical Examination ◽  
Maxillary Sinus ◽  
Female Patient ◽  
Third Molar ◽  
Panoramic Radiograph ◽  
Maxillary Third Molar

Objectives: The aim of this case report is to explain further about radiograph on impacted right maxillary third molar and canine using CBCT 3D. Case Report: A 18 year old female patient came with swelling on her upper right posterior gum. The condition was associated with pus contained in the gum. Physical examination revealed no exact abnormalities condition on her teeth. Panoramic radiograph examination showed radiopaque image surrounded by radiointermediate image in maxillary sinus. The result of 3D CBCT radiograph exhibited radioopaque image resembling tooth 18 surrounded by unilocular radiointermediate filling 2/3 maxillary sinus with well-defined border.  Conclusion: CBCT is a supported examination which may help in establishing diagnosis more accurately.  

scholarly journals Zimmerman-Laband Syndrome Oral Manifestations A Case Report

2019 ◽  
pp. 3-5
Author(s):  
Anuna Laila Mathew ◽  
Mahima James ◽  
Helen Maria
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Female Patient ◽  
Autosomal Dominant ◽  
Permanent Teeth ◽  
Oral Manifestations ◽  
Gingival Enlargement ◽  
Dominant Disease ◽  
Life Threatening ◽  
Gingival Fibromatosis

Zimmerman-Laband syndrome was reported by Zimmerman in the year 1928 which is a rare inherited autosomal dominant disease characterized by generalized enlargement of the attached and marginal gingiva, abnormalities of nose, ear, deformities of nails, joint hyperextensibility, hepatosplenomegaly, skeletal abnormalities and occasional mental retardation. Idiopathic gingival enlargement is usually evident after the eruption of the permanent teeth. Both sexes are equally affected. Genetic loci for autosomal dominant modes of gingival fibromatosis is localized to chromosome 2p21p22 (HGF-1) and chromosome 5q12-q22 (HGF-2). This syndrome is not a life threatening disorder. Hereditary gingival enlargement is associated with syndromes like Rutherford syndrome, Zimmerman-Laband syndrome, Murray-Puretic-Drescher syndrome, Cross syndrome and Ramon’s syndrome. The most important feature of this syndrome is gingival enlargement appearing early in childhood. Idiopathic gingival enlargement is usually evident after the eruption of the permanent teeth. Surgical correction of gingival fibromatosis is recommended, although there is no information on the permanence of the results of this treatment. We present a case of a 14 year old female patient with Zimmerman-Laband syndrome. Gingivectomy was carried out in the upper and lower anterior region there by exposing the impacted teeth.

scholarly journals Cutaneous Neurofibroma of the Lacrimal Caruncule: A Case Report

2017 ◽  
Vol 8 (2) ◽  
pp. 358-361
Author(s):  
Mario Motta ◽  
Mauro Geller ◽  
Cesar Motta
Keyword(s):  
Case Report ◽  
General Anesthesia ◽  
Female Patient ◽  
Neurofibromatosis Type 1 ◽  
Genetic Disease ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Neurofibromatosis Type ◽  
Histopathological Analysis

We describe the case of a neurofibroma on the lacrimal caruncle of a female patient with neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant genetic disease with a wide variety of clinical manifestations, one of the most common of which is neurofibroma. The lesion was removed surgically under general anesthesia and sent to histopathological analysis, which confirmed the clinical diagnosis of a neurofibroma.

scholarly journals Myoepithlioma of Soft Palate: a case report

2018 ◽  
Vol 14 (4) ◽  
pp. 225-227
Author(s):  
Radha Baral ◽  
Bidhata Ojha ◽  
Dipshikha Bajracharya ◽  
Sumit Singh
Keyword(s):  
Salivary Gland ◽  
Case Report ◽  
Female Patient ◽  
Pleomorphic Adenoma ◽  
Soft Palate ◽  
Hard Palate ◽  
Salivary Gland Tumors ◽  
Distinct Entity ◽  
Histopathological Findings ◽  
History Of

Myoepithelioms are rare benign salivary gland tumors representing 1–1.5% of all salivary gland tumors. It was once considered to be one end of the histologic spectrum of pleomorphic adenoma (PA), but myoepitheliomas today are believed to be distinct entity. Herein we report a case of myoepithelioma in a 49 years old female patient with the history of swelling in the soft and hard palate. The diagnosis was made on the basis of histopathological findings and immunohistochemical report.  

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