[CIS PIDD] Eczema turns into lymphoma at age 17.

[Milner, Joshua D. (NIH/NIAID) [E]]

Hi Saul, 
We actually saw someone very similar to this at the NIH a few years ago.
She was in her teens when the pruritis, eczema and alopecia began. She
eventually developed lymphadenopathy andShe did not have any other issues
prior and her labs were remarkable for a low Nks (32/ul) sky high IgE
(70K) and mild eosinophilia. It was slow and indolent-- took 4 years or so
to diagnose. I imagine that the eczema that your patient started with
really was just the beginnings of the CTCL and not a primary atopic
phenotype. While there may be an underlying reason why both cases occur at
such a young age, it would have to be a PID which works like HLH, in that
a specific insult has to trigger the reaction.
Has anyone else seen such cases?

Josh


Joshua D. Milner, MD
Head, Allergic Inflammation Unit
Laboratory of Allergic Diseases, NIAID, NIH
Lab phone: 301 827 3662
Fax: 301 480 7321
jdmilner at niaid.nih.gov




On 7/25/12 12:14 PM, "Saul Oswaldo Lugo Reyes" <dr.lugo.reyes at gmail.com>
wrote:


>  Dear friends and colleagues,

>

>    I've been consulted about the case of a 17 year-old young man who

>started at age 13 with severe, extensive, recalcitrant eczema.   He

>actually ended up in the ICU when his lesions impetiginized and he

>developed septic shock.

>

>    At 14, he suffered from periorbital varioliform Kaposi (HVV8

>related), and then at 15 with disseminated "Mucha-Habermann's"

>Lymphoid papulomatosis.  At 16, extensive ulcerated nodules and

>pustules were biopsied and proved to be cutaneous T-cell lymphoma,

>mostly CD30+, positive for EBNA and with very high serologic titers

>for EBV.  Bone marrow aspirate shows hypoplasia without fibrosis.

>

>     He even had complex seizures and transient hemiparesia, but no

>CNS infiltration or lymph node or bone extension could be found by CT,

>CSF and PET scan.

>

>     He's been given chemotherapy and immunosupressants and is

>responding well, with no evidence of methastases.

>

>     Now, the possibility of a PID was never really entertained, and

>so we don't have a reliable immunological workup.

>

>     There's been lymphopenia, monocytopenia, no B cells and low-ish

>NK cells, but they could be due to the chemo.

>

>     Serum immunoglobulins, including IgE, are normal.    HIV negative.

>

> To sum up,

>

>   Age of onset 13 years old,

>   Severe recalcitrant eczema,

>   Sepsis

>   Cutaneous infections by HVV8 and EBV

>   Cutaneous T-cell lymphoma

>   Normal immunoglobulins.  HIV neg.

>

>   Lymphopenia, monocytopenia, no B-cells, lowish NK-cells.   ....?

>   Hypoplastic bone marrow, with no fibrosis.

>.....?

>

>   Could this be GATA2/MonoMAC?

>

>    I mean, the age of onset, susceptibility to cutaneous viral

>infections and malignancy would suggest it, although it's not an

>"archetypical" case.

>

>    Sadly, I don't think I can rely on the labs now.  But the boy is

>alive, and I would like to pursue his diagnosis as soon as I can.

>

>   Thank you in advance for your time, and any comments or suggestions

>you may have.

>

>   Sincerely,

>

> Saul Lugo Reyes.

>

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>

>-- 

>Saúl Oswaldo Lugo Reyes

>

>Investigador en Ciencias Médicas

>Unidad de Investigacion en Inmunodeficiencias

>9° piso, Torre de Investigacion,

>Instituto Nacional de Pediatria

>Coyoacan 04530 DF, Mexico

>+52(55)10840900 ext. 1866

>--------------------------------------

>"La penicilline guérit les humains; le vin les rend heureux"

>"If penicillin cures sicknesses, Jerez resuscitates dead people". -Sir

>Alexander Fleming