PLEOMORPHIC LIPOMA: A RARE VARIANT OF LIPOMA IN AN UNUSUAL CLINICAL PRESENTATION

Bouveret syndrome is a rare cause of gastric outlet obstruction by passage of gallstone through a fistula between the gallbladder and proximal gastrointestinal tract, it is considered a proximal form of gallstone ileus. The clinical presentation is nonspecific, and imaging plays an important role in the diagnosis of this entity.

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Tiger-like mycosis fungoides: an unusual clinical presentation of a rare variant of mycosis fungoides.

Dermatology Online Journal ◽

10.5070/d3257044809 ◽

2019 ◽

Vol 25 (7) ◽

Author(s):

Anam Ahmad ◽

Kristina Semkova ◽

Catherine M Stefanato ◽

Eduardo J Calonje ◽

Anna Choczaj-Kukula ◽

...

Keyword(s):

Mycosis Fungoides ◽

Rare Variant ◽

Clinical Presentation

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Chronic Paronychia and Onychomadesis in Pemphigus Vegetans: An Unusual Presentation in a Rare Autoimmune Disease

Case Reports in Medicine ◽

10.1155/2018/5980937 ◽

2018 ◽

Vol 2018 ◽

pp. 1-4 ◽

Cited By ~ 2

Author(s):

Thanisorn Sukakul ◽

Supenya Varothai

Keyword(s):

Autoimmune Disease ◽

Rare Variant ◽

Clinical Presentation ◽

Final Diagnosis ◽

Direct Immunofluorescence ◽

Unusual Manifestation ◽

Blood Tests ◽

Immunofluorescence Studies ◽

Elisa Technique ◽

Pemphigus Vegetans

Pemphigus vegetans is a rare variant of deep acantholytic pemphigus which usually presents with vesiculobullous rash and vegetative plaques on the folds. We report a case of pemphigus vegetans patient who presented with rashes on tips of fingers and toes resembling paronychia and onychomadesis that misled the diagnosis for months. The final diagnosis of Hallopeau-type pemphigus vegetans was made based on histopathology and direct immunofluorescence studies. Interestingly, not only the clinical presentation was atypical, but blood tests for anti-desmoglein 1 and 3 antibodies by ELISA technique were also negative. Thus, the rare unusual manifestation of pemphigus vegetans in this patient may associate with different autoantibodies to desmosomal proteins compared with those of classic pemphigus patients.

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Linear porokeratosis presenting in adulthood: A diagnostic challenge: A case report

SAGE Open Medical Case Reports ◽

10.1177/2050313x20919613 ◽

2020 ◽

Vol 8 ◽

pp. 2050313X2091961

Author(s):

Roya S Nazarian ◽

Mojgan Hosseinipour ◽

Bijal Amin ◽

Steven R Cohen

Keyword(s):

Case Report ◽

Rare Variant ◽

Somatic Mutation ◽

Clinical Presentation ◽

Adult Onset ◽

Diagnostic Challenge ◽

Distal Extremity ◽

Proximal Extremity ◽

Oral Isotretinoin ◽

Children Development

Linear porokeratosis is a rare variant of porokeratosis that most often presents in newborns and children; development of this porokeratosis variant in adulthood is far less common. We report the case of a 25-year-old female who presented with a progressive eruption on the proximal upper extremity of 6-year duration, which was ultimately diagnosed as adult-onset linear porokeratosis and safely treated with oral isotretinoin. We propose that a sporadic mutation resulting in mosaicism after birth may explain the development of linear porokeratosis in adulthood, although the exact trigger of such a somatic mutation is not known. This case also describes a unique clinical presentation, with linear porokeratosis lesions originating on the proximal extremity rather than on the more common distal extremity. This demonstrates a distinctive clinical presentation not seen in the pediatric forms of disease.

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Jansky-Bielschowsky syndrome, a lysosomal disease: First diagnosed cash in Oman

Proceedings, annual meeting, Electron Microscopy Society of America ◽

10.1017/s0424820100123568 ◽

1992 ◽

Vol 50 (1) ◽

pp. 632-633

Author(s):

Line Buhl ◽

David Muirhead

Keyword(s):

Mental Retardation ◽

Clinical Picture ◽

Neurological Disorder ◽

Clinical Presentation ◽

Neuronal Ceroid Lipofuscinosis ◽

Infantile Form ◽

Lysosomal Disease ◽

Juvenile Form ◽

Progressive Encephalopathy ◽

Lysosomal Diseases

There are four lysosomal diseases of which the neuronal ceroid lipofuscinosis is the rarest. The clinical presentation and their characteric abnormal ultrastructure subdivide them into four types. These are known as the Infantile form (Santavuori-Haltia), Late infantile form (Jansky-Bielschowsky), Juvenile form (Batten-Spielmeyer-Voght) and the Adult form (Kuph's).An 8 year old Omani girl presented wth myclonic jerks since the age of 4 years, with progressive encephalopathy, mental retardation, ataxia and loss of vision. An ophthalmoscopy was performed followed by rectal suction biopsies (fig. 1). A previous sibling had died of an undiagnosed neurological disorder with a similar clinical picture.

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An Overview of Dementias

Perspectives on Swallowing and Swallowing Disorders (Dysphagia) ◽

10.1044/sasd21.3.75 ◽

2012 ◽

Vol 21 (3) ◽

pp. 75-84

Author(s):

Venkata Vijaya K. Dalai ◽

Jason E. Childress ◽

Paul E Schulz

Keyword(s):

Clinical Presentation ◽

Treatment Options ◽

Current Treatment ◽

Great Variability ◽

Health Concern ◽

Public Health Concern ◽

Life Threatening ◽

The Common ◽

Neurodegenerative Dementias ◽

Made In

Dementia is a major public health concern that afflicts an estimated 24.3 million people worldwide. Great strides are being made in order to better diagnose, prevent, and treat these disorders. Dementia is associated with multiple complications, some of which can be life-threatening, such as dysphagia. There is great variability between dementias in terms of when dysphagia and other swallowing disorders occur. In order to prepare the reader for the other articles in this publication discussing swallowing issues in depth, the authors of this article will provide a brief overview of the prevalence, risk factors, pathogenesis, clinical presentation, diagnosis, current treatment options, and implications for eating for the common forms of neurodegenerative dementias.

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