Quiz: March 2007



A 9-yr-old boy referred with a long-time history for palmoplantar keratoderma, erythematoscaly plaques on the knees, elbows, dorsum of hands and also face involvement. Family history was negative, parents were not consanguineous, and the patient was normal at birth. There was no significant associated findings.

What is your diagnosis? 




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Diagnosis: EKV or PSEK ?!

  Omid Zargari;

Personally, I think this is a case of Erythrokeratoderma variabilis, though frankly it is not typical.  Dr. Art Huntley kindly forwarded this case to ask Dr. Richard's opinions and he was nice enough to give us his valuable comments. Also, my friend Dr. Al Aboud explained his very useful approach to this case. Thanks to them, below please read their comments;

  Gabriele Richard;

Thank you for forwarding this interesting case. Based on the pictures and brief clinical summary, I would differentiate between 3
disorders: EKV, PSEK and ichthyosis bullosa of Siemens (in this order).

1. EKV: Everything said and depicted is consistent with this diagnosis. In particular, superficial peeling of the skin is a rel.
common feature in EKV. We have also seen in many EKV patients with hyperkeratotic plaques on the outer ear rims and mild teleangiectasias of the ear as depicted here. In my experience almost all EKV patients have erythematous patches that come and go (or
change) within hours to days OR a history of these red spots, especially triggered by cold exposure.
The majority of EKV patients have a mutation in GJB3 or GJB4, so genetic testing might help to establish this diagnosis.

2.PSEK: This is in my opinion a gemisch of ill-defined erythrokeratodermic disorders that cannot be classified otherwise. I don't believe that there is a single or a set of definitive diagnostic criteria. So if every other disorder can be excluded, one could (more or less descriptively) call it PSEK.

3. IBS/EHK: mild erythema and superficial peeling are consistent with IBS, but sometimes may also be found in epidermolytic hyperkeratosis and its variants (I am thinking of the cyclic ichthyosis patients).
Careful evaluation of a skin biopsy might reveal clues, such as keratin filament abnormalities, mild cytolysis, etc. Since the patient has prominent PPK, I would look for a KRT1 mutation (probably outside the mutation hotspots) and if this is negative perhaps for a KRT2e mutation (although I thought that this keratin is not expressed in palms in soles).

Unfortunately, I cannot offer to check the disease gene candidates under a research protocol since I have left the research field and Thomas Jefferson University 2 years ago and am now working as Associate Clinical Director of GeneDx Inc., a molecular diagnostic lab.

I hope that my answers might be of some use for the diagnosis of this young man.

With best wishes,

Khalid Al Aboud, Saudi Arabia;

The cascade for diagnosis is simple.
1.Patient has erythematous scaly lesions:
either acquired inflammatory dermatoses , like psoriasis , or hereditary disorders of cornification. Due, to the age together with clinical picture, it is likely ,hereditary disorders of cornification.
2.hereditary disorders of cornification , are either ichthyosis, Eryhthrokeratodermas(EK), Peeling skin syndromes, or Palmoplanter Keratoderma (PPK).Due to clinical picture , it ismost likely, EK.
3.EK might be EK variabilis( Mendes Da Costa disease), or ProgressiveSymmetric EK , (PSEK)( Gottron-Darier disease) , or EK en cocardes.Due to clinical picture , it is (PSEK).
4.Due to presence of superficial peeling, Mauserung or molting phenomenon, one may think of Ichthyosis bullosa of Seimens or Epidermolytic Hyperkeratosis (EHK) ,but no history of blistering, or ichthosis exfoliativa , but the disease here is localized and not generalized. So the best diagnosis here is Progressive symmetric Exfoliative ichthosis.

  Khalid Al Aboud, Saudi Arabia; (addendum)

Why , it is not EKV?, because absent of migratory erythem, and symmetrical distribution.There is also superifical exfoliation.

It is not also classical for PSEK , because , it is also progressive, and again there is superfical exfoliation.

The case may represent a subset of a condition called ichthyosis exfoliativa that combine the features of Epidermolytic Hyperkeratosis (EHK) and Ichthyosis Bullosa of Siemens. 

So, as in my case report, you may refers to this condition as Progressive(if it really progressive) Symmetric Exfoliative Ichthyosis.

Remind you , that not all the cases of ichthyosis fit into a know entity. Each year , there are many cases that are difficult to categorize into the well know entities.

Genetic studies are for genes, encoding transglutaminase and loricine and other epidermal proteins , will be a future tool to classify such cases correctly.

 Wishing you all the success and many thanks for this interesting case.

  Hadi Nick, Romania;

Complicated & difficult chapter!
Symmetrical Progressive Erythrokeratodermia. 

 Reza Ghaderi, Iran;

It is a case of Nonepidermolytic palmoplantar keratoderma  

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