[CIS PIDD] [cis-pidd] wart predisposition syndrome?

[Notarangelo, Luigi]

Dear Blachy:

There are now a variety of genetic defects leading to EV. These include EVER1 and EVER2, but also DOCK8, RhoH, STK4. I would encourage you to contact Dr Casanova. He has an active research project on this topic and may be able to help you with this case.

Gigi Notarangelo

Sent from my iPhone

Luigi D. Notarangelo, MD
Jeffrey Modell Chair of Pediatric Immunology Research
Division of Immunology
Children's Hospital Boston
Professor of Pediatrics and Pathology
Harvard Medical School
Karp Building, Room 10217
1 Blackfan Circle
Boston, MA 02115

Tel: (617)-919-2276
Fax: (617)-730-0709


On Jan 11, 2013, at 7:13 PM, "Blachy Davila-Saldana" <davilasa at ohsu.edu<mailto:davilasa at ohsu.edu>> wrote:


Hello all;



I recently met a 6 year old male patient born to non consanguineous Iraqui parents.  He was referred to me from dermatology after biopsy of a chronic rash showed changes consisted with verruca plana (flat wart).  They were concerned about acquired epidermodysplasia verruciformis (EDV) and its malignant skin predisposition.  He, however, is not on any immune suppressants and there is no family history.  In addition, he has several other issues which make me question this diagnosis.  These include:



- enteropathy since infancy, with previous need for prolonged hospitalization and nutritional support.  It is presumed as celiac disease, although no pathologic or laboratory values demonstrate this.  He is, however, clinically improved on a gluten, egg and dairy-free diet, and has no current issues with diarrhea or malabsoprtion.



- he is s/p splenectomy 2 years ago because on massive enlargement causing compression, pain and difficulty feeding. Pathology showed changes consistent with a hemangioma.



- primary sclerosing cholangitis, diagnosed after common duct stenosis caused pancreatitis.  Anti-mitochondrial antibodies were negative.



- several bouts of pancreatitis, all presumed secondary to PSC.



-  His rash is not typical of flat warts; "multiple pink to skin colored shiny <1 mm flat topped papules on the posterior and anterior neck, upper back, upper chest, ears, forehead, cheeks, eyelids, chin, and antecubital fossae coalescing into plaques in areas."





Studies performed:



Pathology from skin biopsy: In the left antecubital fossa biopsy there is slight epidermal hyperplasia composed of uniform in size and shape keratinocytes with slightly purple in appearance cytoplasm. There is some hypergranulosis.   HPV subtyping was negative on this particular sample.



CBC:

WBC 5.7

ANC 3500

ALC 1700

Monocytes 450

Hgb 11.9

Plt 376

I unfortunately did not have access to a peripheral smear



Lymphocyte subsets:

- Increased total B cells, with increased naive B cells (96%) and decreased memory B cells

- Normal number of total T cells, with:

         - Decreased CD4+ T cells with resulting decreased CD4:CD8 ratio  (0.4:1)

                 -  Absolute CD4 count 0.234 cells/ul

         - Increased percentage of NKT cells

         - No increase in alpha/beta double-negative T-cells

- Decreased total NK cells

                - Count 0.006 cells/ul



IgE 4

IgA 391

IgG 291

IgM 37



HIV non reactive



Lymph antigen/mitogen profile:

    Normal Lymphocyte responses to Candida

    Normal  Lymphocyte responses to Tetanus

    Low-normal Lymphocyte responses to PHA.

    Normal Lymphocyte responses to Con A.

    Normal Lymphocyte responses to Pokeweed Mitogen.



normal glucose

TSH/T4 normal in 2011



  His story initially made me suspect WHIM, or maybe a milder form of IPEX, but he has several abnormalities I am still unable to explain.   He is developing and growing normally, and has surprisingly never been admitted or treated for serious infections.   Any further ideas in terms of diagnostics?





Thanks.





Blachy





Blachy J. Dávila Saldana

PGY 6

Pediatric Hematology/Oncology Fellow

Mail Code CDRCP

3181 SW Sam Jackson Park Road, Portland OR 97239

503 494 0829


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