[PAGID] FW: patient question

[Conley, Mary Ellen]

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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