[CIS PIDD] [cis-pidd] 4 mo F with erosive dermatitis, recurrent infections and multiple organ lesions

Thu May 4 01:07:54 EDT 2017

Dr. Cheung:

This sounds eerily similar to a kiddo I had who was eventually diagnosed with "classic" hyper IgE (STAT3).   In infancy, she had recurrent skin and GI/allergic issues.  Does your patient have hypereosinophilia?

With the young age and bone lesions, I should say that -- among other things -- please rule out salmonellosis and syphilis.

Good luck with the case.

  - K 

Karl O. A. Yu, M.D., Ph.D., F.A.A.P.
Section of Infectious Diseases  |  Department of Pediatrics  |  Comer Children's Hospital  |  University of Chicago
5841 S Maryland Ave,  MC 6054,  Chicago  IL  60637
Office phone: 773-702-9281  |  Pager: 773-702-6800 x1744  |  Fax: 773-702-1196
Email: karl.yu [at] uchospitals.edu

________________________________________
From: cis-pidd at lyris.dundee.net [cis-pidd at lyris.dundee.net] on behalf of CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Wednesday, May 03, 2017 9:01 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] 4 mo F with erosive dermatitis, recurrent infections and multiple organ lesions

If wasn't the infections I would say nlrc4

Sent from my iPhone

________________________________________
On 3 May 2017, at 22:36, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Dear CIS members,

We are interested in any suggestions regarding diagnosis or further investigation on this 4 month old girl.

BACKGROUND:
2nd child to Nepalese, non-consaguineous parents. Older sibling (12 y/o) – well.
Antenatally monitored for foetal growth and abnormal choroid plexus on US but uneventful perinatal course.

HOPC:
Cutaneous:
-        Seborrhoeic dermatitis since 3/52 with eczematous appearance to body and deep perianal ulcer.
o   Abdominal skin biopsy: immunofluorescence screen negative, acanthosis with perivascular and interstitial inflammation.
o   Scalp biopsy consistent with leukocytoclastic vasculitis.
-        Initial improvement  to eczematous rash with topical emollients/steroids.
-        Now developing several necrotic/ulcer type lesions to scalp, eye & vulva. Worsening purpuric rash in last 5 days with poor skin integrity and healing. Biopsy: spongiotic dermatitis with perivascular inflammation. Negative acid fast bacilli.
GI:
-        Recurrent diarrhoea since 4/52. Initial presentation with severe metabolic acidosis, diagnosed with presumed cow’s milk allergy & commenced on Neocate with bloody diarrhoea on accidental CM re-exposure. While some initial improvement on elemental formula, she had continued to have loose bowel actions.
-        Failure to thrive
-        Previous hepatitis & hepatomegaly – now resolved. Normal spleen on ultrasound.
Haem:
-        Normocytic anaemia (60-70 g/L) – requiring 1x RBC transfusion. Teardrops on bloodfilm.
-        Thrombocytopenia (60-110)
-        Appropriate leucocytosis and neutrophilia with infections with normalisation between infections.
Infections:
-        CMV PCR positive on initial presentation. Negative on newborn screening test.
-        4 x UTIs (enterococci) – responsive to oral antibiotics. MCUG & renal USS normal.
-        Chronic recurrent oral thrush – responsive to Nilstat, recurs on cessation
-        Recurrent skin infections with MSSA on swab
-        Perianal ulcerative lesion – pseudomonas growth on swab
-        Right orbital cellulitis (adenovirus on eye swab, negative bacterial culture). Associated otitis media and perforated tympanic membrane. Fluid MCS – S. Aureus & candida
Most recent developments include:
-        Incidental right upper lobe abscess found on MRI (clinically asymptomatic) – awaiting further investigation.
-        Bone scan: metabolically active process involving the left tibia & possibly right mid femur. ? Inflammatory lesions. Subtle asymmetry of activity at the left posterior ilium is less specific

Investigations to date:
•       CMV: PCR positive in urine, CMV quantitative: 17,600 copies/mL (performed initial presentation – due to be repeated), Guthrie blood spot CMV negative, Eye Review (5/4): Nil evidence of CMV retinitis, Audiology: pending
•       Cranial USS: mineralising leukostriate vasculopathy
•       MRI brain: Focus of susceptibility in relation to the right choroid plexus could be representative of any calcification.  A haemorrhagic change is not completely excluded.  No evidence of cerebral vasculitis.  Incidental note of a focus of consolidation in the right upper lobe associated with abscess/pneumatocele.
•       Ferritin: 209 —> 285
•       Autoimmune screen- normal (ANA, ENA, ds DNA). ANCA pending
•       Metabolic/Endo: Normal ketones, insulin, glucose, cortisone, ammonia, amino acids, GH.  Mildly low fatty acids (but normal glucose at the time)
•       Gastro: Raised faecal calprotectin 1806. Rectosigmoidoscopy- macroscopically normal. CMV negative.  Hepatomegaly on ultrasound in early April but LFTs  now normalised, spleen normal on US
•       Immunology:
–       Total IgE elevated 887
–      Normal neutrophil function
–      Normal absolute lymphocyte numbers with increase of proportions of CD4+ and CD8+ memory T cells. Normal TREC numbers. Normal lymphocyte proliferation
–      IgG 11.55 (H 2.28-6.22), IgA 1.28 (H 0.15-0.64), IgM 0.77 (N)
–      Normal CH50, Normal C3/C4
•       Negative ANA, ENA, dsDNA
•       Hair sample – not consistent with Netherton’s.
•       Bone marrow aspirate:  normal
•       Genetics: microarray and WES pending (will take ~ 3 weeks)

Looking forward to hearing your thoughts.

Thanks,

Abigail Cheung
Paediatric Allergist & Immunology
Department of Allergy and Immunology
Women's & Children's Hospital
Adelaide, Australia

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