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Case report for discussion

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(7) Case report for discussion: ?Neonatal Pemphigus

by Rivkah Isseroff M.D. and the RxDERM-L Discussion List

Dermatology Online Journal, July 1995
Volume 1, Number 1


The unknown case is presented to you in the PROCEEDINGS section of the journal. Although "proceedings" in a journal usually refers to 'an official record of things said or done' (Webster's Seventh New Collegiate Dictionary), Here it refers to 'an official record of things being said or done.' Unlike those items found in the ORIGINAL ARTICLES section which are considered in completed form at the time of publication, these cases can receive comments which will be appended to and become part of the article. This is an attempt to make a journal more interactive with the readers.

This first case presentation was transferred from the RxDERM-L discussion list for further comment here.

Art Huntley


A seven month old baby boy, born after normal uncomplicated pregnancy and delivery to a mother with no known abnormalities, developed intraoral erosions in the first week of life, accompanied by fever, respiratory distress, difficulty feeding, and an erythematous (but never bullous) rash on the glabrous skin. There was a positive Nikolsky sign on oral mucosa. The initial diagnoses included candidiasis and HSV, and a brief treatment (until negative cultures obtained) with ZOvirax and amphotericin B did not improve the erosions. Skin biopsy showed "inflammatory reaction that was urticaria-like" and intraoral biopsy showed acantholysis, compatible with the diagnosis of pemphigus or Hailey Hailey.

The mother has never had any signs of pemphigus,and indirect immunofluoresence of both mother and baby serum has been negative 2X on monkey esophagus. Repeat biopsy, frozen section for direct immunofluorescence were negative , or questionable. Treatment with prednisone at 1 mg/kg (recently increased to 2mg/kg) has not improved intraoral ulcerations. The child has no glabrous or ocular abnormalities. Has positive ANA, with increasing titres (I don't have the quantitative information). He is a failure to thrive and is being fed NG or IV.

His history and slides were reviewed by Doctors Nancy Esterly and Luis Diaz, and their best diagnosis was neonatal pemphigus, despite the many enigmatic findings.

I ran a western blot using his serum and keratinocyte extract, and could not find a clear immunoreactive band of 130Kd, which is ordinarily seen with pemphigus serum.

Any diagnostic or therapeutic suggestions would be welcome.

Thank you, Rivkah isseroff, M.D.


Comments from TK Vaughan, M.D.

Consider Acrodermatitis Enteropathica. Perhaps the mother's diet was low in Zinc? Regardless, supplement current diet of infant with Zinc.

Comments from N. Guzick, M.D.

Would get zinc levels. Electron Microscopy, and if possible, immuno-electron microscopy Have mother's serum checked for ANA and related antigens (ro, la, etc).

Comments from Irwin Freedberg, M.D.

I showed your note to Seth Orlow who offers the following:

? some form of EB with preference for mucous membranes - although he has never heard of such a thing

? bullous mastocytosis - could do a Giemsa on the blocks

? acrodermatitis enteropathica or one of the mimics of acrodermatitis such as zinc deficiency, cystic fibrosis, various organic acidurias

Comments from P. Haines Ely, M.D.

I have a patient like this with epidermolytic hyperkeratosis. Nothing helps except antibiotics from time to time for areas of secondary infection and lots of Aquaphor antibiotic ointment to the glabrous skin. Time improved the kid more than anything

. I'd suggest a couple more biopsies.

Comments from Thomas Ray, M.D.

Among the acrodermatitis enteropathica mimics, one might consider biotin deficiency. This can arise as:

  1. Inherited - neonatal - type caused by holocarboxylase synthetase deficiency.
  2. Inherited - infantile - (onset at 1 month to 1 year) type caused by biotinase deficiency.
  3. Acquired type usually in cases of prolonged parenteral nutrition or excessive and prolonged avidin ingestion (eg.raw eggs).

The inherited forms might be considered, especially if signs of alopecia, ichthyosis, keratoconjunctivitis, ataxia or hypotonia are present along with mucosal and glossal changes. Lesions can resemble acrodermatitis enteropathica. Candida infection may be present. All forms respond to supplemental biotin.


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Dermatology Online Journal
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