A 38 yr old man with c/o thickening of skin over face, chest, arms, legs over period of 2 yrs

A 38 yr old man presented to the outpatient department with c/o thickening of skin over face, chest, arms, legs over period of 2 yrs. He did not have dyspnea, raynaud’s phenomena or polyarthalgia.  He does have reflux in supine position There was no h/o exposure to any kind of chemical or drug. There was no family history of any type of connective tissue disorder.

He had thick, coarse skin over same areas with grade 4 clubbing and digital pitting ulcers at fingers. Both the hands appeared to be in flexion contracture due to tightness of skin.

Laboratory Data

Investigations included complete blood counts, thyroid profile, high resolution CT chest, Ultrasound scan abdomen, 2-D echo of heart which all were normal.

ANA(IF) positive 1:40 dilution, Nucleolar pattern.
Anti-topoisomerase-1 antibodies negative.

Eosinophil counts in peripheral smear- 5%

Patient refused skin biopsy

Pseudoscleroderma syndromes: Eosinophilic fasciitis or Scleromyxedema

This case is of importance due to its uniqueness of presentation (diffuse thick and coarse skin and not much of clinical findings), lab findings and diagnostic uncertainty.

There are few take home messsages for this case.

1. Skin biopsy would have given us lot of answers
2. Absolute absence of systemic manifestations goes against literature
3. Regular follow up didn’t indicate towards progression of disease, good prognosis
4. Fixed treatment protocols can be modified in few selected cases

This patient was selected for reporting because of this singularity. Though the presentation was not very typical of scleroderma nor did patient had any systemic involvement(Raynaud's,lung involvement), unusual again for patient of this disease.

Patient had ANA +ve in nucleolar pattern which we thought was strongest point in support. We also considered some other diseases like EOSINOPHILIC FASCIITIS, but we never found any evidence of peripheral eosinophilia. Histological conformation could not be made.

Another differential diagnosis was SCLEROMYXEDEMA but patient was nether diabetic nor was illness very long standing. There are not many controlled trials regarding treatment of such conditions but based on clinical experience and whatever is best available in literature, we selected the treatment options.

Treatment
A short and tapering course of prednisolene (.25mg/kg)
T.methotrexate, 7.5 mg once weekly
T.folic acid 5mg once a week
T.hydroxychloroquine 200mg once daily

In the absence of skin biopsy what would your diagnosis be and how would you proceed?

1. Fabri M, Hunzellmann N. Differential diagnosis of scleroderma and pseudoscleroderma. J Dtsch Dermatol Ges. 2007 Nov;5(11):977-84.
   
   The different forms of scleroderma and the pseudosclerodermas, which clinically partially imitate scleroderma, are rare. Due to the large variety and variability of the clinical course, particularly at the onset of disease, diagnosis may be difficult. For differential diagnosis, the presence of Raynaud phenomenon, antinuclear antibodies and the distribution of sclerosis play essential roles. Besides discussing the diseases that should be considered in the differential diagnosis, we present an algorithm which should facilitate the diagnosis and allow one to promptly initiate appropriate treatment.
   
   
2. Textbook of rheumatology, Kelly’s, 18th edition, chapter77.
3. Differential diagnosis of scleroderma and pseudoscleroderma, review article 977, Mario fabri,Nicolas Hunzelmann, Department of Dermatology, Venereology and Allergy, University of Cologne, Germany
4. Scleroderma and pseudo-scleroderma: uncommon presentations, clinical Derrmatology,2005 sept-oct;23(5):480-90
5. Moore federman syndrome:A rare cause of pseudoscleroderma, K Muhammed, G Nandakumar,case report. Vol 73, issue 4, page 257-2

scleromyxoedema, eosinophilic fasciitis

A.R.Pito MD, Consultant Dermatologist (ret), Norfolk Island, S.P. on December 18, 2010

This case raises some points.  CT was done and expensive ANA studies, but a relatively cheap skin biopsy was not performed.  Presumably the patient was spooked about the idea of a biopsy.  When asked why he robbed banks, a famous bank robber said, "Because that's where the money is."  I think that before this patient is subjected to more (and potentially harmful) medications, someone should sit down with him and explain how innocuous a skin biopsy is and how it "is where the money is" diagnostically.  There's an old saying, "No treatment without a diagnosis" and while there are exceptions to the rule, this is not an emergency situation and a skin biopsy is necessary here.  Of course, there may be cultural reasons as to why the man has refused a bx, so please tell us.  As to the diagnosis, I think a skin biopsy would move you in that direction.  The patient has to know that.

Amy Gillian MD, Volunteer Asst Professor, Department of Dermatology, Univ California San Francisco, San Francisco, CA, USA on December 19, 2010

I wonder about pansclerotic morphea in this case.  This can present with rapidly progressive acral and facial sclerosis in the absence of systemic disease.  I have treated this with pulsed solumedrol and MTX but would be hesitant to do so in the absence of skin biopsy

Meenakshi Mohanram MD, Asst Prof, Dept of Dermatology, Chettinad Hospital & Research Institute, Chennai, India on December 19, 2010

Thanks for that report. I personally will vote for systemic sclerosis though you don't have all the features suggestive of scleroderma. The positive feartures are both acral and some truncal, digitted pitted ulcers and positive ANA-nucleolar. Considering that there were no systemic involvement at the time of presentation & the acral features, this patient is likely to have a chronic course. Also though there is no Raynaud's phenomenon the digital pitted ulcers are indicative of vaso spasm. So I would start the patient on vasodilators like nifedipine. The esophageal reflux also needs some H2 blockers.

Stephen Stone MD, Professor, Department of Dermatology, SIU School of Medicine, Springfield IL USA on December 20, 2010

I agree with Dr. Gillian but would tell the patient my hands are tied without a biopsy.  That being said, long term low dose methotrexate would be my treatment of choice.