[CIS PIDD] [cis-pidd] severe molluscum/ CMC

[Hauck, Fabian Dr.med.]

Keeping in mind the mild developmental delay, you should consider PGM3 deficiency as well. Is the child microcephalic?

Fabian Hauck, MD
Consultant Pediatrician
Pediatric Hematology and Oncology - Stem cell transplantation - Immunological Service
Dr. von Haunersches Kinderspital
Lindwurmstraße 4
80337 München, Germany
Tel: +49-(0)89-5160-7944
Fax: +49-(0)89-5160-7942
Email: fabian.hauck at med.uni-muenchen.de<blocked::mailto:fabian.hauck at med.uni-muenchen.de>


________________________________
Von: Dr. Carsten Speckmann [mailto:carsten.speckmann at uniklinik-freiburg.de]
Gesendet: Donnerstag, 24. Oktober 2013 13:41
An: CIS-PIDD
Betreff: Re: [cis-pidd] severe molluscum/ CMC

Bamboo hair? (Netherton?)
Naive T cells, TCR repertoire, g/d T cells? (combined ID? - the undetectable IgM raises suspicion)
IgE is normal, but high levels somtimes just gradually evolve over time in AD HIES and can be normal in some young children.
Plt are normal and the patient is female (so not classic WAS), but on the end of your differential list you might want to add WIP deficiency

Dr. med. Carsten Speckmann
Funktionsoberarzt/Consultant Immunologist
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de<mailto:carsten.speckmann at uniklinik-freiburg.de>
web: www.cci.uniklinik-freiburg.de<http://www.cci.uniklinik-freiburg.de>



Am 24.10.13 13:07, schrieb Blachy Davila-Saldana:
Hello all;

I'd to hear your thoughts regarding a patient. This is a 20 month old female, only child to non-consanguineous parents, who has had severe eczematous dermatitis since around 4 weeks of age, not responsive to any treatment by dermatology.  She has required a previous hospital admission for wound consult management due to the severity, also had several episodes of suprainfection with Staph species, mostly MSSA.  Additionally, she developed molluscum contagiosum which has become widespread as well.  She has a history of reactive airway disease and frequent URI's, but no documented pneumonias, abscesses or ear infections.  No severe thrush or fungal skin issues by history.

On exam, she is 50th percentile for both height and weight.  The dermatitis is severe and covers forearms, axillae, diaper area and legs.  Her molluscum covers her upper trunk and all extremities.  She has mild to moderate developmental delay.  Even with her severe rash, I only felt a couple small nodes on her occipital area, and none elsewhere.  She has dysplastic nails, mainly on her lower extremities.  Her hair is short and sparse.

Labs:
WBC 19.2, with ANC 5400, ALC 10000 and 1300 eos
Hgb 13.8
Plt 422

CMP normal, including normal albumin (3.6), glucose (90) and calcium (10.3)

IgG 265
IgA 65
IgM <10
IgE 28

Lymphocyte subsets:
- Normal total numbers of T cells and B cells
- Slightly decreased NK cells  (177.2 cells/ul)
- Slightly increased polyclonal CD5 positive B cells
- No monoclonal B cell population
- Naïve B cells 89.2%
- Non-switched, marginal zone like memory B cells 9%
- swiched memory B cells 0.7%

Mitogen proliferation studies:
Absent Lymphocyte responses to Candida
Low-normal Lymphocyte responses to Tetanus
Low-normal Lymphocyte responses to PHA.
Normal Lymphocyte responses to Con A.
Normal Lymphocyte responses to Pokeweed Mitogen.

HIV non-reactive

Antibodies:
Tetanus 0.1 (0.1 considered protective in this lab)
Diphteria 0.0
HiB 0.1 (1 or above considered protective)


She has been given another vaccine challenge and we will retest titers.  DOCK8 deficiency evaluation is in process.

A fungal culture from her nails grew yeast, only identified as NOT C. Albicans.  She was placed on fluconazole as well as aldara by dermatology, after a cantharone trial, but her molluscum continues to spread and is worsening.  As next treatment, and before we knew these results, she had two intralesional candida antigen injections, with no improvement (and no skin reaction, at all).

I know treatment of her skin will be challenging, but I was wondering how others have treated severe molluscum in this setting.  Additionally, I wondered of further testing.  Would you proceed with testing for CMC?  Should we consider screening further for endocrinopathies, even though her labs are normal?

Your thoughts are appreciated.

Blachy

Blachy J. Dávila Saldaña
PGY-7
Pediatric Hematology-Oncology Fellow
Mail Code CDRCP
3181 SW Sam Jackson Park Road
Portland OR 97231


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