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

[Saul Oswaldo Lugo Reyes]

  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.












-- 
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