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A story with images: Clues to 8 pathological diseases.

Dr Sampurna Roy MD          

"Rings and roses are not a romantic combination in the world of the pathologists" -Dr Sampurna Roy MD

Each word is highlighted to help you to solve the puzzle.

 

 


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This is a story of a tall man. In the morning he stretches his long thin arms and legs and does yoga to keep his spines straight. He has worn glasses since he was in kindergarten. Much to his annoyance there are many spiders in his kitchen.

Despite cardiac problems he plays golf everyday.

It was a special morning and after having a cigar he decided to propose to his girlfriend. He gave her a diamond ring, a round bracelet with green and brown stones and a huge a bouquet of roses

He sung a romantic song in a hoarse, low pitched voice.

They went to the sea-food restaurant and ordered their favourite dish. Soon his fiancee complained of offensive smell of rotten fish.

Finally, she decided to break off the engagement because the rotten fishy smell was coming from the man and not the food. He was very depressed and started singing the blues in his hoarse voice.

 

What are the 8 pathological conditions hidden in the images?

 

Answer:

 

1) Marfan's Syndrome:  

Tall man with long thin arms, legs and spider-like fingers (arachnodactyly). 

Other clinical features include high arched palate, hyperextensibility of joints, spinal defect like kyphoscoliosis.

The chest is deformed and presents as pectus excavatum  (depressed sternum) or pectus carinatum- pigeon breast deformity (sternum protrude forward).

       

Eye shows bilateral dislocation of lens or subluxation of the lense. Patients with subluxated lenses are treated with glasses or contact lenses. 

In addition there is weakness of the aorta which leads to aneurysmal dilatation, aortic regurgitation and development of aortic dissecting aorta. In the aorta there is degeneration of elastic fibres.

This genetic disorder is inherited as a Mendelian dominant trait and is caused by mutations in structural proteins.


2) Golf ball appearance:

In Alpha Thalassemia also known as Hemoglobin H disease numerous pale blue inclusions are noted in the red blood cells.

This is described as "Golf ball appearance".

These inclusions are clearly demonstrated by brilliant cresyl blue stain.  

Diagram demonstrating the inclusions resembling Golf ball


3) Cigar cells or cigar shaped cells: These are present in Hereditary Elliptocytosis.

Diagram showing cigar cells in Hereditary Elliptocytosis


4)  Signet ring cells:

Most pathologists restrict the term adenocarcinoma to tumours  showing glandular differentiation. Sometimes there is so large accumulation of mucus in the cytoplasm that the nucleus is compressed on to the cell wall.

This type of cell is called a signet-ring cell, and it bears a morphological resemblance to an adult fat cell.

Signet-ring cell carcinoma is defined as a lesion consisting of more than 50% signet-ring cells.

Signet ring cells are found in the gastrointestinal tumours (esophagus, stomach, small and large bowel and appendix), tumours in the breast, eyelid, lung , bladder, prostate, endometrium and metastatic tumour in the ovary (Krukenberg tumour) skin and testis. 

 

 

Various microscopic images showing signet ring cells

 


5) Kayser-Fleischer Ring: 

Wilson's disease is an inherited disorder leading to accumulation of copper in tissues, mainly in the liver and brain.

Diagnosis is based on clinical and laboratory examinations (neurologic symptoms, liver disease, low serum ceruloplasmin levels, elevated free copper concentration in serum, high urine copper excretion, and presence of Kayser-Fleischer rings).

In nearly all patients with neurologic involvement an eye lesion called Kayser-Fleischer ring develops.

These are green to brown deposits of copper in Descemet's membrane in the limbus of the cornea.


5) Rosettes means Rose-shaped arrangement:

Rosettes consist of a halo like arrangement of cells surrounding a central core or space. Rosettes are identified in a wide range of neoplatic lesions.

Visit article: Neuropathology for the Neuroradiologist: Rosettes and Pseudorosettes

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A) Flexner-Wintersteiner rosettes - A central lumen that contains small cytoplasmic extensions of the encircling cells.

Unlike the center of the Homer Wright rosette, the central lumen does not contain the fiber-rich neuropil.

Present in Retinoblastoma, pineoblastoma and medulloepithelioma .

B) Homer-Wright  Rosette - Cluster of cells in each rosette surrounds an empty appearing central lumen containing fine cytoplasmic processes.

Present in Neuroblastoma, Medulloblastoma, Retinoblastoma, primitive neuroectodermal tumour, pineoblastoma.

C) True Ependymal Rosette: In Ependymoma - Cluster of cells are present around central canal or empty lumen.

D) Pseudorosettes: Clusters of cells present around blood vessels.

Present in Ependymoma, medulloblastoma, primitive neuroectodermal tumor, central neurocytoma.


7) Singer's Nodule or Vocal Cord Nodule:

Firm localized non-neoplastic swelling thought to be caused by vocal abuse or reaction to injury. It causes hoarseness of voice.

Grossly these localized swellings are pale and translucent or bluish in colour.

Microscopically the nodule consists of loose, edematous and often myxoid mass of subepithelial connective tissue.

   

  Diagram and microscopic image  of Singer's nodule.

 


8) Fish-Odor syndrome or Trimethylaminuria:  

This is a rare, autosomal recessive, metabolic disorder.

It is characterized by a fishy odor resembling that of rotten or decaying fish that results from excess excretion of trimethylamine in the urine, breath, sweat.

The disease is caused due to defective flavin-containing monooxygenase 3 (FMO3).

In the liver, this protein catalyzes the NADPH-dependent oxidative metabolism of odorous trimethylamine , derived in the gut from dietary sources, to nonodorous trimethylamine N-oxide.

The affected patients are unable to carry out this reaction. These patients exude a fishy body odor.

This leads to a variety of psychosocial problems, including  clinical depression, and attempted suicide.

- Trimethylamine is present in milk.

- Its precursors including choline present in eggs, liver, kidney, peas, beans, peanuts, soya products, and  vegetables like brussels sprouts, broccoli, cabbage, cauliflower.

- Lecithin and lecithin-containing fish oil supplements.

- Trimethylamine N-oxide present in seafood - (Fish, cephalopods, and crustaceans) .

 

 


 

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"When you want something, all the universe conspires in helping you to achieve it." - Paulo Coelho

 

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Dr  Sampurna Roy  MD

Consultant  Histopathologist (Kolkata - India)

   


 

 

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