피부 이완의 소견을 보인 상염색체 열성 2형 탄력섬유 가성황색종 = A Case of Autosomal Recessive Type 2 Pseudoxanthoma Elasticum Presenting Generalized Cutaneous Laxity

다국어 초록 (Multilingual Abstract)

Pseudoxanthoma elasticum is a rare, heritable disorder of elastic fibers characterized by yellowish, coalescing papules on the loose and wrinkled flexural skin. An 18-year-old man presented cutis laxa-like marked wrinkling on the axillae, trunk and thighs for about 10 years. There was no similar skin lesion on his family members and no other systemic involvement was found. Histopathological examination of the abdomen revealed fragmentation and calcification of elastic fibers in the middle and lower dermis. Von Kossa staining showed calcium deposition along the altered elastic fibers. Herein, we report a rare case of autosomal recessive pseudoxanthoma elasticum presenting generalized cutaneous laxity. (Korean J Dermatol 2007;45(10):1083∼1086)

참고문헌 (Reference)

1 "Psedudoxanthoma elasticum with generalized cutaneous laxity" 133 : 664-666, 1997

2 "Pope FM. Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum. Br J Dermatol 1975" 493-509,

3 "Mutations in ABCC6 cause pseudoxanthoma elasticum" 25 : 228-231, 2000

4 "Morphometric analysis of elastic skin fibers from patients with: cutis laxa, anectoderma, pseudoxanthoma elasticum, and Buschke-Ollendorff and Williams- Beuren syndromes" 15 : 305-311, 2001

5 "Cutis laxa-like pseudoxanthoma elasticum with ossification" 43 : 375-378, 2004

6 "Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum" 68 : 642-652, 2001

7 "Classification of pseudoxanthoma elasticum: report of a consensus conference" 103-107,

8 "Choi KC. A case of pseudoxanthoma elasticum presenting as generalized cutaneous laxity. Korean J Dermatol 1991" 423-427,

9 "A case of pseudoxanthoma elasticum clinically mimicking cutis laxa" 38 : 227-230, 2000