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

[Dewton Vasconcelos]

Hi Saul

Besides GATA2 I think that DOCK8 could be possible too.

Best,

Dewton

Saul Oswaldo Lugo Reyes 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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