[PAGID] FW: patient question

[Church, Joseph]

Is there a family history of consanguinity?

Has a total IgE been done?

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Conley, Mary
Ellen
Sent: Friday, July 16, 2010 9:58 AM
To: pagid at list.clinimmsoc.org
Cc: 'Susan.Schaefer at Hitchcock.ORG'
Subject: [PAGID] FW: patient question

A colleague in New Hampshire saw an interesting patient and would like
some help.
What do you think

Mary Ellen Conley, MD
Department of Immunology/ Mail Stop 351
St. Jude Children's Research Hospital
262 Danny Thomas Place
Memphis, TN 38105-3678
FAX  901-595-3977
TEL  901-595-2576


-----Original Message-----
From: Susan Schaefer [mailto:Susan.Schaefer at Hitchcock.ORG]
Sent: Thursday, July 08, 2010 9:12 AM
To: Conley, Mary Ellen
Subject: patient question

 She is a 2 year old female with a history of candidiasis and skin,hair,
and tooth abnormalities.

 Her infection history has been fairly mild with chronic oral
candidiasis since infancy that is well controlled with diflucan.  She
has had no invasive fungal infections.  No significant bacterial
infections.  No history of chronic diarrhea, skin infections or
sinopulmonary infections.

Immune workup showed normal IgGAM and normal T and B cell numbers.  She
had transient neutropenia associated with an acute viral infection, but
subsequent CBC was normal.  She was diagnosed with Chronic Mucocutaneous
Candidiasis elsewhere, but I don't see any labs evaluating T cell
response to candida.

She has a history of congenital epidermolysis bullosa.  She also has
brittle, dry hair that falls out easily.  She is missing a few teeth
(congenital) and her teeth are either pointy or quite narrow.  Her nails
are thick, grayish and with prominent ridges.  this was initially
thought to be part of her EB but this has improved on diflucan, so may
be from fungal infection.

She is currently being worked up by endocrinology because of recent
onset of pubic hair.  No evidence of hypoparathyroid, hypothyroid or
Addison's to date.

As a baby, she grew and gained weight poorly primarily due to feeding
issues.  this was thought to be due to her EB or oral candidiasis.  She
is now eating well and gaining on the growth curve at every visit.
Development was initially delayed but is now normal.

I know pts w/ APECED can have tooth and skin abnormalities, but have you
heard of EB with this?  Or is there maybe gene linkage between the EB
gene (she did test + for heterozygous mutation for EB) and AIRE or some
related gene?  What tests would you order?  Would you be interested in
seeing her?

There are no acute issues - she's actually doing pretty well right now,
but I want to make sure I am monitoring her approriately.  Any thoughts
would be greatly appreciated, as always.  Thank you!

Susan Schaefer, MD
Department of Allergy
Dartmouth-Hitchcock Manchester
Phone: (603) 695-2560 / Fax: (603) 695-2562 Dartmouth-Hitchcock.org


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