67Indian J Dermatol Venereol Leprol | January-February 2010 | Vol 76 | Issue 1

RP can present in a highly ambiguous fashion, and in one series of cases the mean delay from time of presentation to diagnosis was 2.9 years.[1] Criteria for the diagnosis, as suggested by McAdams and colleagues, include three or more of the following clinical features: (1) bilateral auricular chondritis; (2) nasal chondritis; (3) respiratory tract chondritis; (4) non-erosive seronegative inflammatory polyarthritis; (5) ocular inflammation; (6) cochlear and/or vestibular dysfunction; (7) compatible histological features in a cartilage biopsy specimen.[2]

We present a case of RP in a young female, which went undiagnosed for eight months and ultimately turned fatal immediately after diagnosis.

A 30-year old female patient came to the Emergency Department with acute onset of breathlessness for two hours, accompanied by high-grade fever associated with swelling and redness of the left ear and watering of eyes, for past five days. The patient’s past history was significant, with a similar episode of redness and swelling of the right ear, first appearing before eight months, with a waxing and waning course and subsiding before three months; leaving a deformity of the right ear. There was no history of joint pain or swelling of joints or any other skin lesions in the past.

The patient was admitted and started on IV antibiotics after considering that her condition was cellulitis of the ear, and subsequently she was referred to the Dermatology Department to rule out drug reaction. We examined the patient thoroughly and investigated further. On examination, she was found to have high-grade fever (101° F.), wheezing, and dyspnea; swelling and redness of the conjunctiva and cornea, with watery discharge from both the eyes; inflamed, erythematous, and swollen left ear; deformity of both ears with sparing of ear lobes; deformity of nose (saddle nose) [Figures 1-2] and partial deafness. No other skin, mucosal or nail lesions were observed. Superficial sensations (touch and temperature) were normal on examination.

All routine investigations including hemoglobin, leucocyte count (total and differential), routine urine examination, and renal and liver function tests were within reference range; except ESR, which was 140 in the first hour. Mantoux test was negative; X-ray chest did not show any abnormality. Biopsy of the ear cartilage showed fragmentation of cartilage and

Ajay Kumar Gupta, Sankha KoleyAjay Kumar Gupta, Sankha Koley1, , Sanjiv ChoudharySanjiv Choudhary1, Arvind Bhake, Arvind Bhake2, ,

Vikrant SaojiVikrant Saoji1, Atul Salodkar, Atul Salodkar1

Departments of Ophthalmology, 1Dermatology and 2Pathology, J.N.M.C. Sawangi, Wardha, Maharastra, India.

Address for correspondence:Address for correspondence: Dr. Sankha Koley,9 Mandevelle Gardens, Flat 10 C, Calcutta - 700 019, India.

E-mail: skoley@gmail.com

DOIDOI: 10.4103/0378-6323.58687 - PMIDPMID: 20061739

REFERENCESREFERENCES

1. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995;11:462-4.

2. Friedhofer H, Ocharan AM, Sturtz GP, Fonseca AS, Coltro PS, Ferreira MC. Surgical treatment for eyelid deformity in Crouzon syndrome associated with acanthosis nigricans: Case report. Clinics (Sao Paulo) 2006;61:171-4.

3. Berk DR, Spector EB, Bayliss SJ. Familial acanthosis nigricans due to K650T FGFR3 mutation. Arch Dermatol 2007;143:1153-6.

4. Nagase T, Nagase M, Hirose S, Ohmori K. Crouzon syndrome with acanthosis nigricans: Case report and mutational analysis. Cleft Palate Craniofac J 2000;37:78-82.

5. Arnaud-López L, Fragoso R, Mantilla-Capacho J, Barros-Núñez P. Crouzon with acanthosis nigricans. Further delineation of the syndrome. Clin Genet 2007;72:405-10.

6. Leo MV, Suslak L, Ganesh VL, Adhate A, Apuzzio JJ. Crouzon syndrome: Prenatal ultrasound diagnosis by binocular diameters. Obstet Gynecol 1991;78:906-8.

7. Schwartz M, Kreiborg S, Skovby F. First-Trimester prenatal diagnosis of crouzon syndrome. Prenatal Diagnosis 1996;16:155- 8. Available at: http://www3.interscience.wiley.com/journal/61004488/abstract

8. Jaczyńska R, Kutkowska-Kaźmierczak A, Obersztyn E, Niemiec KT, Leibschang J, Ceran A, et al. Prenatal diagnosis of Crouzon syndrome—actual diagnostic possibilities. [Article in Polish]. Ginekol Pol 2006;77:138-45.

Relapsing polychondritis - Relapsing polychondritis - delayed diagnosis and fatal delayed diagnosis and fatal outcomeoutcome

Sir,Relapsing polychondritis (RP) is an inflammatory disorder, episodic in nature, characterized by recurrent inflammation of cartilaginous tissues and eventual destruction of affected tissues. The disorder mainly affects the eyes, respiratory tract, nose, and ears. It has a chronic relapsing and remitting course that can be fatal at times; although most times, it is the disfigurement due to tissue destruction that is of concern; rather than the threat to life.

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Indian J Dermatol Venereol Leprol | January-February 2010 | Vol 76 | Issue 1 68

replacement of cartilage by fibrous tissue, cartilage destruction with loss of basophilic staining and lymphocytic infiltrate was evident [Figure 3].

Clinical findings and investigations, including biopsy, confirmed the diagnosis of relapsing polychondritis.

Figure 1: Shows saddle nose deformity and infl ammation of both eyes

Figure 2: Shows deformity of right ear

The patient fulfilled six of the seven McAdams criteria[2] for the diagnosis (namely, bilateral auricular chondritis, nasal chondritis, respiratory tract chondritis, ocular inflammation, hearing loss, and compatible cartilage biopsy findings).

The patient was prescribed oral prednisolone 40 mg per day, along with dapsone 100 mg daily. (G-6PD deficiency was ruled out). The patient did not come for the follow-up visit after discharge from the hospital. After about one month the patient again came to the Emergency Department with pain in her throat and hoarseness of voice. Unfortunately the patient collapsed within a few minutes.

Relapsing polychondritis was first described in 1923 by Jaksch-Wartenhorst as polychondropathia,[3] and due to its episodic nature it was later on termed as ‘relapsing polychondritis’.[4] RP is an uncommon, multisystem disease that can be life-threatening, debilitating, and difficult to diagnose. It is characterized by recurrent, potentially severe, and frightening episodes of inflammation of cartilaginous tissues. All types of cartilage may be involved, including the elastic cartilage of the ears and nose, the hyaline cartilage of peripheral joints, the fibrocartilage at the axial sites, and the cartilage in the tracheobronchial tree. RP can also inflame other proteoglycan-rich structures, such as the eye, heart, blood vessels, and inner ear. Systemic symptoms (like fever, lethargy, and weight loss) are common, and vasculitis, affecting skin or internal organs, may occur. The patients can present with a wide array of painful symptoms that often pose as major diagnostic dilemmas. As no specific tests are available for it, relapsing polychondritis must be diagnosed on clinical grounds. Pathogenetically, a linkage to HLADR4 and other autoimmune diseases has been noted.[1]

In most patients, RP assumes a fluctuating but progressive course in which polycyclic bouts of inflammation eventually lead to permanent destruction of the involved structure.

RP usually manifests between the third to fifth decade; average age of onset is 47 years. Male to female ratio of 1:3. This disease is usually seen in white persons; it has been rarely reported in other ethnic groups.[1]

RP is considered as an autoimmune disease; with autoimmunity against type II collagen. Value of antibody titer in assessing the disease and its severity is debated.[5] Prognosis is variable and depends upon

Figure 3: Photomicrograph showing typical histopathological changes of relapsing polychondritis (H and E, �40)

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69Indian J Dermatol Venereol Leprol | January-February 2010 | Vol 76 | Issue 1

the organ involvement and response to treatment. A variety of anti-inflammatory and antineutrophilic agents, including corticosteroids, dapsone, NSAIDs, and methotrexate are reported to be useful. Of late successful results with infliximab and IL-1 receptor antagonist (anakinra) have been reported.[6]

RP has been occasionally reported in Indian literature. [7,8] Our case was a clinically typical case of relapsing polychondritis, but as mentioned earlier only ear and eye inflammation were present and she was misdiagnosed as a case of urticaria and angioedema, which was not reviewed again when tissue destruction was evident; leading to a delay in the targeted treatment. This might be the cause of the fatality in our case.

Krina PatelKrina PatelDepartment of Dermatology, Smt. S. C. L. Hospital,

Smt. N.H.L. Municipal Medical College, Ahmedabad - 380 018, India

Address for correspondence:Address for correspondence: Dr. Krina Patel, 902\A Suryaketu Tower, Nr. Sambhav Press, Judges Bunglow Road,

Ahmedabad - 380 015, India. E-mail: bhportho@yahoo.com

DOIDOI: 10.4103/0378-6323.58688 - PMIDPMID: 20061740

REFERENCESREFERENCES

1. Trentham DE, Le CH. Relapsing polychondritis. Ann Intern Med 1998;129:114-22.

2. McAdam LP, O’Hanlan MA, Bluestone R, Pearson CM. Relapsing polychondritis: Prospective study of 23 patients and a review of the literature. Medicine (Baltimore) 1976;55:193-215.

3. Jaksch -Wartenhorst R. Polychondropathia. Wien Arch F Inn Med.1923;6:93-100.

4. Pearson CM, Kline HM, Newcomer VD. Relapsing polychondritis. N Engl J Med 1960;263:51-8.

5. Ebringer R, Rook G, Swana GT, Bottazzo GF, Doniach D. Antibodies to cartilage and type II collagen in relapsing polychondritis and other rheumatic diseases. Ann Rheum Dis 1981;40:473-9.

6. Rencic A, Nousari CH. Other rheumatologic diseases. In: Bolognia JL, Jorizzo JL, Rapini RP, editors. Dermatology. 2nd ed. Spain: Mosby Elsevier; 2008. p. 600-1.

7. Thankappan PT, Sulochana G. Relapsing polychondritis. Indian J Dermatol Venereol Leprol 1991;57:146-7.

8. Handa F, Ahmad M. Relapsing polychondritis. Indian J Dermatol Venereol Leprol 1980;46:55-8.

Chronic tophaceous gout with Chronic tophaceous gout with severe deforming arthritissevere deforming arthritis

Sir,Gout is an inflammatory arthritis caused by cellular

reaction to monosodium urate crystal deposition. Tophi are chalky, gritty accumulations of monosodium urate crystals that build up in soft tissue of an untreated gouty joint. Fortunately, advances in early diagnosis and treatment of gout have made such patients uncommon. We describe a dramatic clinical presentation of severe deforming arthritis due to chronic tophaceous gout. Such cases must be differentiated from other conditions manifesting as cutaneous nodules with crippling arthritis.

A 40-year-old man presented with multiple nodules over bilateral hands, feet, elbows, knees and ankles since four years. The lesions were initially small and painless that gradually increased in size, some of which ulcerated and discharged white chalky material. His past history was remarkable for bilateral, asymmetric, large (wrists, elbows, knees, ankles) and small joint (interphalangeal joints of hands and metacarpophalangeal and interphalangeal joints of feet) pain with swelling and erythema of 11 years duration. He had taken only traditional medications without relief. There was no family history of gout, or personal history of hypertension, alcohol use, and high purine diet intake. His occupation did not involve chronic exposure to chemicals, heavy metals or aerosols.

Dermatological examination revealed multiple, mobile, skin-to-yellowish colored, firm, dermal and subcutaneous nodules and large globose tumors, located on palms and dorsa of hands overlying interphalangeal joints, wrists, elbows, knees, ankles and interphalangeal joints of the feet [Figures 1,2]. Some of the lesions ulcerated, discharging chalky material. The associated joints were deformed.

His hematological and biochemical examination revealed anemia (Hb-5.6 gm/dl), raised serum uric acid (11.4 mg/dl, normal - 2-7.4 mg/dl), blood urea (110 mg/dl, normal - 10-50 mg/dl) and serum creatinine (2.0 mg/dl, normal - 0.5-1.8 mg/dl). Liver function test, urinalysis and serum electrolytes were within normal limits. Rheumatoid factor was negative. Radiographic evaluation of both hands showed soft-tissue swelling and periarticular erosions in the lower end of radius and interphalangeal joints with sclerotic margins and overhanging edges. Polarizing microscopy of the chalky material from the ulcerated nodules revealed negatively birefringent needle-shaped urate crystals. Skin biopsy from the finger nodule revealed

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