Friday, September 07, 2012

Hidrotic Ectodermal Dysplasia

Abstract: 44 yo woman with Clouston Syndrome and severe painful kereatoderma

HPI: This 44 year-old disabled woman has the severe stigmata of Clouston Syndrome (CS-HED) (a variant of hidrotic ectodermal dysplasia seen in French Canadian probands).  She has impressive keratoderma of the feet which  make ambulating difficult and painful.  Her father had CS-HED as do three of her daughters.  The presentation in her daughters is variable.  Over the years, her keratoderma has become progressively severe. On a recent visit she said, "Please cut my feet off and feed them to the pigs."  She has been hospitalized in the past for cellulitis secondary to breakdown of plantar keratoderma.  The patient had seen a podiatrist who debrided her feet in theater on occasion, but she moved to another state and her insurance does not cover her there.

O/E:  This is a sad looking 44 year-old woman.  She has alopecia universalis, is edentulous, her nails are dystrophic and she has has abnormal and hyperkeratotic palms.  The most striking feature is massive keratoderma plantaris which tends to break down and become infected.

Clinical Photographs (presented with the patient's consent):

Diagnosis and Questions:   This unfortunate woman has massive keratoderma in the setting of Clouston Hidrotic Ectodermal Dysplasia.  Her painful feet make ambulating difficult and intolerable.  This has become more severe over the years and the patient has become discouraged.  She has asked on more than one occasion to have her feet amputated.  My plan at this point is to find a podiatrist or plastic surgeon who can do shave excisions to debride the keratoderma while she is on acitretin which will hopefully forestall the recurrence of her keratoderma.  She had a tubal ligation 22 years ago and is not sexually active at present but will be monitored for pregnancy monthly.  If this approach fails, deep excision of keratoderma with grafting has occasionally been reported.  I plan to start her on 10 mg of acitretin three times a week and increase slowly as tolerated.  

Your suggestions will be appreciated.


  1. from Andrew Carlson (Sermatopathologist): It looks to me like papilloamtosis due HPV infection and/or that seen in elephantiasis. Indeed, given her Clouston's syndrome, these myriad mosaic papules most likely represent syringofibroadenomatosis ( which I have detected HPV DNA in, but others have not reproduced this finding). In addition, to debridement/debulking, perhaps a trial of imiquimod to see if any regression can be induced.

  2. from Douglas Johnson (dermatologist): She should do well with soriatane. Just need to tailor the dose to fit the patient.
    There is a wide degree of response to dose. She may need as little as 25mg twice a week
    or 25mg/day. I usually start low and go up. Start at 25 biw and go up or down.
    Soaks in warm water. Follow with 10% sal acid or 40% urea. once or twice daily.

  3. I agree with the trial of acitretin - would start at 10 mg/day. Also, urea 40%, with occlusion overnight might be helpful.

  4. AnonymousJune 18, 2016

    Have her wash her feet daily with Desert Essence Tea Tree wash...this is not a joke!


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