Case Number : Case 1584 - 21 July Posted By: Guest

I was thinking of a Sezary Syndrome, but I have no knowledge about neonatal cases like this...

Disturbance of the immune system have been reported in Netherton Syndrome, and also a CD30+ T cell lymphoma...A MF/SS developed in a Netherton's Syndrome patient?

?CD4 ?CD8 ?CD30

The immuno images are CD3 (1st one) and CD20 (2nd one).

The T cells were a mixture of CD4 and CD8 cells. CD30 was negative.

Good try, Vincenzo...but Sezary/CTCL would be quite unusual in neonatal period. Any other ideas??

Mona's suggestion is interesting! Epidermis is usually spared in T-cell PLL, but it's possible...

@ Mona, mother did not have leukaemia and there was no drug history.

 I agree that lymphoid cells are looking a bit atypical on the images, but there is also quite prominent spongiosis......

Severe Atopic Dermatitis? Atypical intraepidermal cells could be LC...

Would go with severe atopic dermatitis. Basically, a spongiotic tissue reaction pattern with lot of lymphocyte exocytosis. Yes, scattered large lymphoid cells. Doesnt have the typical epidermal changes described for Netherton's. The dermal infiltrate in the latter is usually eosinophils and neutrophils. LEKTI IHC?

I reached the same conclusion (as Vincenzo, Mona and Nitin), when I saw this case...that of severe atopic dermatitis (great minds think alike!!) However, that is not the right diagnosis!

Further clinical information revealed that the child also had hepatosplenomegaly, lymphadenopathy and an episode of ear infection (due to Staph) treated with antibiotics. Any more thoughts?......a clue is the presence of dyskeratotic/necrotic keratinocytes, which is unusual for atopic dermatitis and typical of this entity.....

To be honest, my impression when I saw the images without clinical was MF but then I read the clinical and I remembered that lymphomas in babies are almost non-existent. So I re-checked the histology and saw the amount of spongiosis and found this interesting article with the causes of erythroderma http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3519255/ and agree this must be atopic dermatitis. It really amazes me how worried I get when I see lymphocytes in the epidermis, I usually ask  myself all the time could this be MF? and I guess this kind of practice can be negative as we tend to overcall sometimes. And now that I see again the case, spongiosis is prominent and the immuno is remarking lymphocytes in a pattern that is not the one of T cell lymphomas, here they just seem to be disposed in an anarchic way. Nice case!

Omenn's syndrome. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3074865/

Just read about this. In one of the reports the skin biopsy of Omenn's had only CD8+ cells and basal vacuolation, both lacking here. Not sure. Waiting for the answer Arti :)

Would go with Omenn's. The clinical picture with organomegaly is in keeping with that. Great case.

Sorry for the delay in posting as could'nt access the website.

Yes, this a case of Omenn's syndrome.

Lab investigations of T and B cell susets revealed lymphocytosis with absent B cells, no naive T lymphocytes and 92% activated T lymphocytes. Genetic testing showed RAG1 mutation and both his parents were confirmed to be heterozygous carriers.

There are only a few studies about the histology of this rare entity and there does seem to be a degree of consistency in the histological picture. A combination of parakeratosis, spongiosis with necrotic/dyskeratotic keratinocytes with/without basal vacuolation is a consistent finding. The main histological d/d (given the clinical picture of neonatal erythroderma) would include GVHD, Atopic dermatitis and Netherton's syndrome. The largest series detailing histology of this entity and d/d is from Great Ormond Street, see ref below

http://link.springer.com/article/10.1007%2Fs100240010171

Remember the entire clinical picture may not be manifest at presentation and hence awareness of the histology of this entity can help alert the clinicain to this possibility. Early diagnosis is ofcourse critical as prompt treatment can reduce mortality. 

Thank you all for your comments and the great discussion!!