No fun in the sun: a case of idiopathic porphyria cutanea tarda in a patient with systemic scleroderma.Although the sclerodermoid variant of porphyria cutanea tarda porphyria cu·ta·ne·a tar·da n. Abbr. PCT Porphyria characterized by liver dysfunction and photosensitive cutaneous lesions, with hyperpigmentation and scleroderma-like changes in skin, neurologic manifestations, and porphyrinuria. (PCT (Private Communications Technology) A protocol from Microsoft that provides secure transactions over the Web. See security protocol. ) is well recognized, the concurrence of systemic scleroderma and PCT has rarely been documented. We report a case of idiopathic PCT in a patient with limited systemic scleroderma and serologic evidence of an overlap connective tissue disorder (CTD CTD 1 Connective tissue disease, see there 2 Cumulative trauma disorder, see there ). This is the first reported case of concurrent PCT and scleroderma in a patient with this unique auto-antibody profile. A 53-year-old Caucasian male with a history of heavy alcohol use, first presented in September 2000 with a 1-year history of sclerodactyly and Raynaud's phenomenon. Serologic ANA (titer 1:640) and Scl-70 autoantibodies suggested limited systemic scleroderma. Over the next few years, he underwent multiple amputations for recurring episodes of fingertip necrosis secondary to chronic Raynaud's. He returned in October 2002, with photosensitivity Photosensitivity Definition Photosensitivity refers to any increase in the reactivity of the skin to sunlight. Description The skin is a carefully designed interface between our bodies and the outside world. , increased skin fragility, and painful vesicular rash that started 2 months prior. Exam revealed multiple hemorrhagic, crusting ulcerations Ulcerations Breaks in skin or mucous membranes that are often accompanied by loss of tissue on the surface. Mentioned in: Hypersplenism over the sun-exposed areas of his body and generalized hyperpigmentation. Lab work revealed elevated levels of urinary uroporphyrins and coproporphyrins in a ratio of 4:1 supporting a diagnosis of PCT. He also had serologic evidence of an overlap CTD; ANA (titer 1:640), Smith, RNP, SSA, SSB, and Scl-70 autoantibodies were all moderately elevated. He was started on low dose Plaquenil and instructed to avoid sun exposure and alcohol. At his 3-month follow-up, he had complete resolution of his PCT and no further episodes of fingertip necrosis. The association between autoimmune diseases and idiopathic PCT is well recognized but poorly understood. Per Sigal et al, a possible hypothesis is an acquired metabolic fault resulting in porphyria Porphyria comes in a winter storm to show her devotion, and her lover strangles her with her own tresses. [Br. Poetry: Browning Porphyria’s Lover in Magill IV, 247] See : Love, Unrequited , as a consequence of a pre-existing auto-immune disorder. In order to further clarify the relationship between these diseases, we agree that a systematic immunologic workup should be done in all patients with PCT. Amir Kaki, MD. University of Tennessee The University of Tennessee (UT), sometimes called the University of Tennessee at Knoxville (UT Knoxville or UTK), is the flagship institution of the statewide land-grant University of Tennessee public university system in the American state of Tennessee. , Chattanooga Unit, Chattanooga, TN. |
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