[PAGID] Newborn with Sweet's syndrome and hypogammaglobulinaemia

[Kathleen E. Sullivan]

The rash kind of sounds like incontinenta pigmenta although I realize  
this is a boy- but the combo with hypogamm makes me wonder if there  
could be some weird connection to IKKg.

Kate
Kathleen E. Sullivan MD PhD
Chief, Division of Allergy and Immunology
Professor of Pediatrics
The Children's Hospital of Philadelphia
(p) 215-590-1697
(f) 267-426-0363


On Apr 13, 2009, at 7:44 PM, John Ziegler wrote:


> We are looking for ideas about a 1 month old boy with

>

> 1) Neonatal Sweet’s syndrome

> 2) Hypogammaglobulinemia

> 3) Hepatosplenomegaly

> 4) Thrombocytopenia

>

> This is the first child of well unrelated Chinese parents, born in  

> Sydney by vaginal delivery after a pregnancy complicated by  

> hyperemesis.  Mum had no medications during pregnancy, there were  

> no infectious symptoms and the antenatal infectious screening was  

> negative.   There is no family history of skin disease or immune  

> deficiency and no deaths in early childhood.

>

> He presented with a mild vesicular rash a few minutes after birth,  

> and the rash progressed over the next 3 weeks.  The distribution is  

> head, arms, legs, scrotum and upper thorax, and the appearance is  

> of elevated lesions with deep dermal infiltration and necrotic  

> overlying skin.  Biopsy demonstrated panniculitis with extensive  

> neutrophilic leukocytoclasis throughout the dermis and subcutaneous  

> tissue.  This neutrophilic dermatosis was thought to be consistent  

> for Sweet’s syndrome, however, the young age and panniculitis are  

> atypical. The rash was associated with a mild peripheral blood  

> neutrophilia which reached 11,000, a significant monocytosis = 4.1  

> (0.3- 1.2), CRP =179 and ESR = 90.  Associated with this is ongoing  

> thrombocytopenia with platelet counts between 41-65,000.  There is  

> moderate splenomegaly 7.3 cm (upper limit normal 5 cm) but no  

> Howell Jolly bodies on the blood film, and unfortunately the  

> attempted bone marrow biopsy was an insufficient sample.  He has  

> hepatomegaly 7.0 cm (normal 4-6) with raised gGT = 400 and low  

> albumin = 22, but with relatively normal AST and ALT. ANA was –ve  

> in the baby and has not yet been determined in the mother.

>

> He has had a negative infection screen thus far, including for  

> direct viral detection of HSV, VZV, CMV and Enterovirus from a  

> variety of fluids.  No organisms were grown on MC&S, other than a  

> sensitive E. coli on eye swab from a pussy eye, while gram/ fungal  

> stain from the skin biopsy were negative (cultures of biopsy were  

> not performed).

>

> He was treated with steroids and seemed to have some initial  

> response but despite 1 mg/Kg prednisolone continues to develop new  

> skin lesions.

>

> He was also found to be hypogammaglobulinaemic with no IgA or IgM  

> and IgG of 2.3, and 1% of B-cells.  He is now being treated with  

> IVIG and we are awaiting a response.  T cells were normal in  

> number; T cell function has not yet been assessed.

>

> Has anyone seen a neutrophilic dermatosis at birth in an  

> immunodeficient child?  Other than congenital infection, what  

> mechanisms might be involved?  If this is a PID, other than XLA  

> what possibilities should be considered?

>

>

>

> Summary of investigations:

>

> FBC/ CBC

>

> Hb              100 (Holding up)

> Lymphocytes:    4.1 @ presentation, currently 1.3 on steroids.

> Monocytes:      Highest = 4.1 (0.3 – 1.2), now normal range on  

> steroids.

> Neutrophils:    Highest = 11, prior to steroids.

>

> Immunoglobulins (@1 month of age)

>

> IgG                             2.30    g/L         1.7 - 5.8

> IgA                             <0.06   g/L        0.00 - 0.50

> IgM                             <0.05   g/L        0.19 - 0.95

> IgE                     <5      IU/ml      0 - 1.5

>

> Lymphocyte subsets (@1 month of age)

> Lymphocytes                     3.6     X10^9/L     3.8 - 7.6

>

> CD3                             3.28    x10^9/L     2.3 - 7.0

> CD3                             91      %

>

> CD4                             1.91    x10^9/L     1.7 - 5.3

> CD4                             53      %

>

> CD8                             1.37    x10^9/L     0.4 - 1.7

> CD8                             38      %

>

> CD19                            0.04    x10^9/L     0.6 - 1.9

> CD19                           1       %

>

> NK CELLS                0.14    x10^9/L     0.2 - 1.4

> NK CELLS                  4       %

>

>

>

> Dr Paul Gray and A/Prof. John B. Ziegler

> Department of Immunology & Infectious Diseases

> Sydney Children's Hospital

> High St., Randwick NSW 2031

> Australia

> T: (02) 93821515

> F: + 61 + 2 93821580

> E: j.ziegler at unsw.edu.au

>

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