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.

Full Text Reference

65 yo woman with nodulo-ulcerative leg lesions

Abstract:  65 yo woman with 4 year history of papules and nodules and 2 - 3 month history of papulo-ulcerative lesions on the legs

HPI:  This 65 yo woman has had leg lesions for ~ four years.  Initially, papules and small nodules. Over the past few months a number of these have become ulcerative.  She had lymphadenopathy two years ago and a lymph node biopsy was interpreted as sarcoidosis.  Her CXR was normal and no treatment was rendered,

O/E:  Healthy appearing woman with numerous 8 - 10 mm nodules on both lower extermities.  Similar lesions were ulcerative. Remainder of cutansous examination unremarkable.

Clinical Photos:

Pathology:  Small noncaseating epitheliod granulomas containing multinucleated giant cells within a dense fibrotic stroma and a perivascular plasmacytic infiltrate at the periphery.  Rare elongate acid-fast bacilli are seen in two granulomas.

4x

10x

 
20x

 
40x (AFB)

Diagnosis: Necrobiosis-like variant of sarcoidosis.  What is the significance of rare AFBs?  She will have PPD and work-up to rule out TBC.

Questions:  Do you have alternative diagnoses? How would you treat her?


References:

1.  Necrobiosis lipoidica-like skin lesions in systemic sarcoidosis.

Igawa K, Maruyama R, Satoh T, Yokozeki H, Katayama I, Nishioka K.

J Dermatol. 1998 Oct;25(10):653-6.

Abstract

A 62-year-old woman with systemic sarcoidosis developed erythematous plaques on her lower legs. Clinically, two kinds of skin lesions were distinguished; one type formed brownish-red plaques with induration suggesting plaque-type skin sarcoid, and the other formed purplish erythematous plaques with atrophic centers resembling necrobiosis lipoidica. In spite of this clinical appearance, a biopsy specimen from one of the latter lesions revealed typical skin sarcoid histology composed of discrete non-caseating granulomas, while that from one of the other lesions showed necrobiotic changes of collagen bundles surrounded by epitheloid histiocytes and foreign-body giant cells. Because cutaneous involvement of sarcoidosis may mimic necrobiosis lipoidica clinically and/or histologically, we diagnosed her skin lesions as necrobiosis-like skin sarcoid.

2. Histologic observations of variably acid-fast pleomorphic bacteria in systemic sarcoidosis: a report of 3 cases.
Cantwell AR Jr. Growth. 1982 Summer;46(2):113-25.
Abstract: Tissue sections of skin and lymph nodes from three consecutively diagnosed cases of systemic sarcoidosis were studied for the presence of acid-fast bacteria, utilizing routine and acid-fast staining techniques recently recommended for the demonstration of cell-wall-deficient bacteria (L-forms). Evidence of variably acid-fast cocco-bacillary forms was present within the biopsy material of all the patients. The combined findings of variably sized, predominantly coccoid forms, along with larger forms resembling L-form "large bodies," and short acid-fast rods all suggest that cell-wall-deficient bacteria (possibly related to the mycobacteria or corynebacteria) may be present in cases of sarcoidosis. 

Deadline Looming

Abstract:  27 year-old woman with severe generalized contact dermatitis secondary to poison ivy, starting two weeks before her wedding.

HPI:   This 27 yo woman, whose wedding is August 4th, 2012, presented on July 19th with a one day history of a facial eruption.  She has a history of rhus allergy and had been at the beach collecting leaves for an architecture project a couple of days before the onset of symptoms.  At the time, she was wearing a bathing suit and a wrap-around towel.   The rash first appeared on her face and left lower abdomen.  She has a history of acne vulgaris which is quiescent now.  She was on prednisone 20 and 10 mg a day for a week, ~ 10 days before this episode.

O/E:  July 19th:  Marked erythema and induration on left forehead, cheek, chin.  Vesicles and small bullae scattered in the area;  A few erythematous streaky patches lsft hip.  Over the next few days, in spite of treatment the process progressed to involve abdomen, neck and fingers.  On July 23, there are new erythematous-bullous areas on the left lower abdomen and hip. (see photos).

Clinical Photos:  See below

Therapy: 
July 19th:  Prednisone 20 mg b.i.d. (her weight is 54 kg).  Cool tap water compresses.  Hydroxizine 20 - 30 mg hs.
July 21:  Because of progression of dermatitis, prednisone increased to 50 mg per day in divided doses.  Dome Boro compresses 3 x per day, Silvadene cream because of some erosions at site of bullae.  Prednisone is causing her to feel anxious and panicky.  Lunesta 1 - 2 mg added for sleep. 
July 23:  I am surprised that new lesions continue to develop in spite of an adequate dose of prednisone (see photos).  Have added a "soak and smear" protocol for body lesions and desoximetasone cream bid for dermatitis on body and once daily for face.

Diagnosis: Severe Allergic Phyto-Contact Dermatitis secondary to rhus.  We saw this at onset and in spite of a reasonable dose of prednisone and cool compresses it has progressed.  Steroid dose was limited because of CNS symptoms and initially I was reluctant to use topical steroids due to her history of acne; but have just started desoximetasone cream on 7/23.  The timeline is important as she is getting married in 12 days.  It is odd that this has progressed after what is usually an adequate dose of prednisone, and I am worried that increasing the prednisone may cause more anxiety and insomnia. Most likely this is a severe anamnestic response to urushiol and she may indeed need a higher dose of prednisone or she may not be absorbing it.

Questions:
1) How would you handle the facial erythema?

2) Topical corticosteroids as well as oral steroids can exacerbate acne.  Should we add a moderate to strong topical corticosteroid for a few days to suppress erythema?

3) She is anxious and has insomnia secondary to prednisone already.  I feel prednisoen is the key to improvement, but am reluctant to push the dose.  Your thoughts?

4) Is there a role for topical tacrolimus?

Your suggestions re: diagnosis and management will be appreciated.

Photos:

July 19

July 20

July 21

July 22

July 23

New lesions 4 d p start prednisone

July 24
Real Improvement Noted Today

7/30
Pretty Much Better

Nasal Tumor for Diagnosis

Presented by Henry Foong, Ipoh, Malaysia


Abstract: 45 yo man with one year history of a tumor on the nasal tip.

HPI: The patient is a 45 yr old man with a growth on the tip of nose for a year. It started as an asymptomatic papule last year and was shaved off by a GP.  He remained well till 3 months ago when it started to recur.  He had seen few doctors and the last doctor, a plastic surgeon decided to refer to a dermatologist. He lives in Teluk Intan about 100 km south from Ipoh. He is an excavator driver, does mainly outdoor work and has no family history of skin cancer.

O/E: Examination showed a firm non tender nodule 1.5 x 1.5 cm on the tip of the nose with a crateriform centre. Regional nodes were not enlarged.  

Clinical Photos:

Pathology: An incisional biopsy was done on the tumor. Biopsy done showed diffuse and nodular infiltration of lymphocytes in the reticular dermis and deeper layers, separated by variable amount of fibrocollagenous tissue. Admixed with the lymphocytes are few eosinophils and plasma cells. There is no epidermotropism. The epidermis is unremarkable. Mitotic figures are discernable.  

Immunohistochemical studies were performed on the tissues. The lymphoid population showed a polyclonal population of both T cell and B cell markers. A diffuse positivity of pan T markers CD 3 along with CD5 were noted. Patchy distribution of the B cell markers throughout is noticed for CD20, CD79a, PAX5 and MUM 1. Ki67 shows a proliferation index of 30-40% in the entire population.

Diagnosis (Tentative): Lymphocytoma Cutis

Questions:  Is the immunohistochemistry supportive of lymphocytoma cutis (cutaneous B-cell pseudolymphoma)  or cutaneous lymphoma? Will excision of the tumor help? If surgery is not contemplated, what would be recommmended treatment?

Nail Dystrophy in a Nurse

A colleague requested our opinion regarding a woman who contacted him, but has not seen.  Here are her words and photos.

" I am a 61 yo palliative care nurse who has had a nail dystrophy for around 14 months. There is no pain or discomfort. I take no meds by mouth and am in good general health. Every 2 weeks I get a professional manicure and have never had acrylic, gel or silk.  I tried "formaldehyde free" products for a while, as well as Biotin 5000mcg daily and noted no improvement.  As part of my job, I visit patients in their homes and wash my hands before & after each visit. Rarely do I have the need to wear gloves.  Your suggestions will be welcome."

Questions at this time:
1) Are all nails involved (including toe-nails)?
2) Has a dermatologist been consulted and have KOH prep and/or fungal culture been done?

Superficial Acral Fibromyxoma

The patient is a 61 yo woman with a 1 - 2 month history of a nodule on the dorsum of the left foot.

O/E: 1 cm nodule without any diagnostic features.

Clinical Photos:

Pathology: (Microscopic photos courtesy of Jag Bhawan, Chief of Dermtopathology, Boston University Department of Dermatology)
The lesion was shave-excised and the base cauterized.  Pathology showed a nodular dermal lesion comprised of fibromyxoid stroma with stellate to spindle-shaped fibroblasts and traversed by prominent vascular channels. (Photomicrographs 2x, 4x, 10x, 20x, 40x)

Diagnosis:  Superficial Acral Fivbromyxoma

Discussion:  This is a rare lesion.  I am not sure if the diagnosis could have been made prior to pathology.  Most of these lesions are periungual  This one was not.  This case is being presented for interest since little is known about this kind of lesion.

Reference:

Goo J, et. al. A case of recurrent superficial acral fibromyxoma. Ann Dermatol. 2010 Feb;22(1):110-3. Epub 2010 Feb 28

Department of Dermatology, Wonju College of Medicine, Yonsei University, Wonju, Korea.  Free FullText.

Skin Cancer in Renal Transplant Patient

The patient is a 64 yo man who received a renal transplant x years ago and is maintained on prednisone and Prograf.  He presented with a 4 cm biopsy proven superficial squamous cell carcinoma on the left parietal scalp.  This lesion would have necessitated a large micrographic surgical procedure with a graft.

An attempt was made to treat with topical chemotherapy.  Imiquimod was inititiated, but there was only minimal response after two weeks.  Five fluorouracil was then added and this achieved a moderate response.  The combination of imiquimod/5FU was continued for a total of six weeks, then stopped.  One month later there appears to be a clinical cure.  He will be followed closely.  

There is a possibility that this combination therapy can help selected transplant patients with low risk superficial nonmelanoma skin cancers.

Clinical Photos:

After Six Weeks Imiquimod/5FU

One month after Stopping Imiquimod/5FU

Comment:  This treatment made me a little nervous, but the surgical approach would have been major for a lesion that had only a small chance of of metastasizing.  The benefits and risks were discussed with the patient; however, his oncologist was unhappy about this approach.

Interstitial Granulomatous Dermatitis in a Child

Abstract: 8 year-old girl with a one week history of a symmetrical eruption
This patient is presented with permission from her parent.

HPI:  The patient is an otherwise healthy 8 year old girl with a one week history of a mildly pruritic eruption;  No antecedent illnesses.  She has molluscum diagnosed in other areas a few months ago.

O/E:  On May 1, 2012, she had discrete and confluent erythematous papules on both thighs and to a lesser extent on both elbows and abdomen.  There was marked cervical lymphadenopathy (present, by history, for years).  By May 3rd, the lesions had enlarged and coalesced into symmetrical plaques on the thighs, buttocks,  and lower extremities.

Clinical Photos (May 3, 2012)

Labs:  CBC, UA normal

Pathology: There is a superficial and mid-perivascular and interstitial lymphocytic infiltrate with neutrophils and rare eosinophils. (Photomicrographs courtesy of Dr. Marjan Mirzabeigi, Dermatopathology, Boston University Department of Dermatology)

 
 

Diagnosis:  Clinically, I considered a viral exanthem or the urticarial phase of Henoch-Schoenlein Purpura.  Histologically, the suggestions were interstitial granulomatous dermatitis (IGD) or an interstitial variant of granuloma granuloma annulare.

Course:  Over the course of two weeks, the lesions completely resolved.  No therapy had been offered.  The child remains well at this time and is at full activity.

Questions:  Have you seen similar cases?  What are your thoughts about "interstitial granulomatous dermatitis."  It is only rarely seen.

Discussion: IGD is a relatively newly described disorder and not much is known about etiology or course.  There may be short-lived variants such as this that are reactions to viral illnesses, drugs or other causes.  Case reports such as this may help to define such rare disorders.

Reference:
Interstitial granulomatous dermatitis
Hillary Johnson MD PhD, Stephanie Mengden MD, Ronald R Brancaccio MD 
Dermatology Online Journal 14 (5): 18 Free Full Text.

Cheilitis Oscura

Abstract:  59 yo woman with eight month history of cheilitis.

HPI: The patient is a 59 yo woman with an eight month history of a pruritic dermatitis which began on the upper lip. It spread to the lower lip and recently to some fingers. For dental hygiene, she has used Crest toothpaste, a white ceramic nasal irrigator, dental floss, a WaterPic and a Sonic Dental Care apparatus on a daily basis.  She has changed this protocol somewhat over the past few months.  Initially, she used Desonide ointment for three to four weeks with minimal help.  She also used clobetasol ointment 0.05% for 10 days with complete clearing. After a protocol of erythromycin gel, steroid ointment, protopic 0.03% the iritation largely disappeared. However, she continues to get flare ups with no apparent cause. Symptoms always include burning, itching and redness. She uses Vaseline on a regular basis to moisten and sooth her lips. A similar dermatitis has appeared around the nail of her right ring finger, and has lingered there for 3 months. In addition, her left ear has several similar spots, and other similar spots have come and gone around her eye lids, eye brow and forehead. Most recently, she has used tacrolimus 0.03% ointment with minimal help, and for the last few weeks only Vaseline, which seems to help the most.  Because of the concern for "steroid addiction" of the facial skin, she only used topical steroids for short periods and only under close supervision.  The process waxes and wanes unpredictably.

O/E:  The process is localized, erythematous and scaly.  The secondary lesions on the fingers and ears look similar.

Clinical Photos:
12/11/11

4/8/12

4/28/12

Laboratory:

Patch Test (T.R.U.E.) all 29 negative.  More focused patch testing is indicated.

Lip culture:  Staph epidermitis and alpha hemolytic strep (interpreted as normal skin organisms)

Biopsy:  Considered, but not done at this time.

Diagnosis and Discussion: Initially, I presumed this to be an allergic contact dermatitis.  I suspect that part of her regimen is the culprit. The sharp border is unusual and could suggest a koebnerized psoriasiform process from an oral hygiene devices that comes in contact with the area.  In children, lip licking would be considered (lick eczema) but the history here does not support that diagnosis.  If the process recurs, I would ask patient to let it develop and then biopsy the lesion.  If that was not helpful, then patch testing with a dental tray would settle the issue of allergic contact dermatitis. 

Questions: Have you encountered similar cases? What are your thoughts?

Reference:  
1.  This is a helpful reference which goes into the many causes of contact dermatitis around the mouth and lips.  Available Free Full Text.  Andrew Scheman, MD, et. al.  Part 3 of a 4-part series Lip and Common Dental Care Products: Trends and Alternatives.  Data from the American Contact Alternatives Group.  Clin Aesthet Dermatol. 2011 September; 4(9): 50–53. 

2.  Here is another useful reference on persistent cheilitis, also available Free Full Text. 

Plexiform Neurofibroma

The patient is a 33 yo man seen for evaluation of a large tumor involving the left thigh.  He lives in a rural area and his last medical visit was at age sixteen.  Sadly, he was without medical insurance until recently.  He lived with his father until recently when the latter died, and now he has been taken in by a family in his community.

The examination showed a pleasant man with a sunny disposition and a broad smile.  While mildly retarded he answers questions appropriately.  His care-giver accompanied him and it is clear that she and her family have welcomed him.

The patient has the stigmata of neurofibromatosis (NF1) with scores of cafe au lait spots and neurofibromas.  Most compelling is a large plexiform NF of the right thigh.  He has other plexiform NFs of the buttock and left chest, but these are smaller.

We will attempt to have him evaluated and treated at a center which specializes in the care of patients with NF.  This post will be updated periodically.

Photos:  Left thigh, anterior and posterior views

 Your comments will be appreciated.

References: 

1. Type 1 NF  eMedicine.  Full text online.

2, KT Power, et. al. Management of Massive Lower Limb Plexiform Neurofibromatosis – When to Intervene?  Ann R Coll Surg Engl. 2007 November; 89(8): 807  Free Full Text Online

Dermoscopy Rocks

Presented by Hamish Dunwoodie, MBBS
Locum Tenens Physician,
Dakota First Nation, Portage La Prairie, Manitoba

Overview:  The patient is an otherwise healthy artist from Moncton, New Brunswick who is studying native pottery production with a First Nation's band in Manitoba.  She presented to our clinic with a one week history of a black macule on the left thenar eminence.  The patient has a past history of nonmelanoma skin cancer and is worried that this may be a melanoma.

O/E:  There is a 1 mm black macule in the above-mentioned area.  Dermoscopic image suggests a vascular lesion.  Note reddish black globules.

The lesions was shaved off, a small amount of H2O2 was applied and the residual hemorrhagic area was digested. The lesion disappeared!

Photographs:  Clinical Image, Dermatoscopic Image before shaving. Dermatoscopic image after shave and H2O2.

Discussion:  Dermoscopy established that this is a vascular lesion, a "subcorneal haematoma."  Once the dermatoscopic image was appreciated, it was gently shaved off with a # 15 scalpel and it vanished.  End of story.  We needed no special tools in this isolated practice setting to put the patient's mind at ease.  I am sure that some of our dermatoscopy experts will have more to day.

Reference:
Zalaudak I, et. al.  Dermoscopy of subcorneal hematoma. Dermatol Surg  Dermatol Surg. 2004 Sep;30( 9):1229-32.
Abstract
BACKGROUND:
Subcorneal hematoma is a pigmented skin lesion usually occurring on palms or soles after a trauma or sport activity. Clinically, it may exhibit overlapping features with acral melanoma or acral melanocytic nevi, leading to unnecessary excision of this otherwise harmless skin lesion.
OBJECTIVE:
The objective was to describe the dermoscopic features in a series of subcorneal hematomas.
METHODS:
Dermoscopic images of 15 subcorneal hematomas were evaluated for the presence of different colors and dermoscopic structures.
RESULTS:
In our series, a red-black hue was the most frequent color seen by dermoscopy (40% of the lesions) and a homogeneous pattern of pigmentation was the most frequent dermoscopic structure (53.3%). Remarkably, 40% of the lesions exhibited a parallel-ridge pattern that is usually found in early melanoma of palms and soles. In 46.7% of the lesions, red-black globules were additionally seen at the periphery as satellites disconnected from the lesion's body. Only two lesions showed either parallel-furrow or fibrillar pattern. A scratch test performed in four lesions, allowed complete or partial removal of the pigmentation.
CONCLUSION:
Dermoscopic features of subcorneal hematomas may be similar to those observed in acral melanocytic lesions. Nevertheless, in most cases the correct diagnosis can be facilitated by the presence of a red-black homogeneous pigmentation, often combined with satellite globules. A positive scratch test may be considered as an additional diagnostic clue.