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.

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An Orphan Patient

Abstract:  44 yo man with a 10 year history of a progressive and disabling dermatitis if the feet.
HPI:  This 44 yo professional was first seen 10 years ago with a dermatitis of both feet and nails.  KOH prep from toe nails was positive for hyphae and he was treated with 3 months of Lamisil p.o.  Nails and feet improved at that time.  He was next seen in 2004 with dermatitis of both feet located on plantar areas which was predominantly hyperkeratotic with areas of excoriation.  He had developed a cellulitis of the right leg which required hospitalization.  KOH from affected aeas was negative in 2004.  Treated with betamethasone diproprionate 0.05% ointment and wet compresses and was "80%" improved in two weeks.  At that time a diagnosis of "keratoderma" and possible "dyshidrosis" was considered.  The process recurred and he asked his PCP to place him on prednisone which was done and seemed to help for a while.  From 2004 - 2010 he saw a number of other dermatologists and podiatrists both locally and at a large university center where a number of other therapies were tried, including Castelanni's paint.  None worked for very long and he was seen back at my office in March 2010.  The patient is at the end of his wits with this.  It dominates his life and is the cause of pain which interferes with his ability to stand at work.

O/E:  March 1, 2010:  Symmetrical hyperkeratosis of the plantar aspects of both feet with areas of excoriation.  Nails look normal.  Palms normal.  KOH prep from plantar dermatosis is negative for hyphae and a fungal culture was plated.

Photos March 2010:

Diagnosis:  Is this keratoderma, tylosis or an unusual contact dermatitis? Could this have begun with tinea pedis nine years ago or was than an incidental finding?

Plan:  Patch testing needs to be considered to r/o occult contact.  I doubt biopsy will help.  Will start therapy with Salex Cream (6% salycilic acid) as we await fungal culture.

Questions:  Does anyone have strong feelings about a diagnosis here?  If so, what therapy should be tried? 

Reference:
1. Shelley WB, Shelley ED.  The orphan patient. N Engl J Med. 1988 Mar 10;318(10):646. In this important letter to the NEJM, the Shelleys define the orphan as an individual “with a unique, inchoate, baffling and often disabling disease and yet clearly not discernable in the medical literature.”  While the patient described here is not strictly an "orphan patient" his 10 year unsuccessful quest for control or cure, puts him in that unfortunate category.  Your help will be appreciated.

2. Brian Maurer sent us an important review of "Shoe Dermatitis" by Robert Adams which appeared in California Medicine in 1972.  It is still valuable.

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