Cutis laxa-like pseudoxanthoma elasticum with osteoma cutis

Sir, Pseudoxanthoma elasticum is a rare inherited multisystem disease, characterized by degenerative changes and calcification of the elastic fibers in the mid dermis, the blood vessels and Bruch's membrane of the eye. When the patient was admitted to a dermatology clinic 7 years ago, she was d...

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Veröffentlicht in:Indian journal of dermatology, venereology, and leprology venereology, and leprology, 2017-07, Vol.83 (4), p.464
Hauptverfasser: Leblebici, Cem, Falay, Tuğba, Zırtıloğlu, Sibel, Demirkesen, Cuyan
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Sprache:eng
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Zusammenfassung:Sir, Pseudoxanthoma elasticum is a rare inherited multisystem disease, characterized by degenerative changes and calcification of the elastic fibers in the mid dermis, the blood vessels and Bruch's membrane of the eye. When the patient was admitted to a dermatology clinic 7 years ago, she was diagnosed as acquired cutis laxa due to syphilis as no other underlying condition was found associated with cutis laxa, except the positive results for venereal diseases research laboratory test, Treponema pallidum hemagglutination test and fluorescent treponemal antibody absorption test. The patient consulted the dermatology clinic of Istanbul Education and Research Hospital because her lesions were gradually extending and also there were brown spots on her body. {Figure 1}{Figure 2}{Figure 3}{Figure 4} The laboratory tests which included complete blood cell count, liver function test, urinalysis, serum calcium, phosphorus, thyroid function test, complement 3, complement 4, erythrocyte sedimentation rate, protein immunoelectrophoresis, prothrombin time, activated partial thromboplastin time and factors VII, VIII, IX were within normal limits. Orcein stain revealed thickened, fragmented, curled elastic fibers [Figure 8] and [Figure 9] and von Kossa stain demonstrated calcium deposits along the altered elastic fibers [Figure 10]. According to these findings, the diagnosis of cutis laxa-like pseudoxanthoma elasticum associated with osteoma cutis was established. The gene encodes multidrug resistance protein 6, a putative transmembrane adenosine triphosphate-binding cassette transporter protein. Pseudoxanthoma elasticum-like syndrome is characterized by a deficiency of the vitamin K-dependent coagulation factors (coagulation factors II, VII, IX, X) or other hematological disorders such as thalassemia, sickle cell anemia and...
ISSN:0378-6323
0973-3922
1998-3611
DOI:10.4103/ijdvl.IJDVL_690_16