TUBERÖZ SKLEROZ VE İKTİYOZİS VULGARİS BİRLİKTELİĞİ: OLGU SUNUMU

Yıl 2009, Cilt: 15 Sayı: 1, 41 - 44, 01.03.2009

Selda Pelin Kartal Durmazlar Semih Tatlıcan Fatma Eskioğlu Hüseyin Üstün

Öz

Tuberöz skleröz epilepsi, mental retardasyon, hamartomlar ve tipik deri bulguları ile karakterize nadir görülen otozomal dominant bir hastalıktır. Tuberöz skleroz tanısı olan 16 yaşındaki erkek hasta yüzündeki çok sayıda papüller nedeniyle görüldü. Fizik muayenede yüzde çok sayıda anjiofibromlar, gövdede hipopigmente maküller, lumbosakral bölgede shagreen patch ve fleksural bölgeler korunurken vücutta yaygın kepeklenme tespit edildi. Histopatolojik inceleme iktiyoz vulgaris ile uyumlu idi. Tuberöz sklerozda çeşitli deri bulguları olmasına rağmen iktiyozis vulgaris ile beraberliği daha önce bildirilmemiştir

Anahtar Kelimeler

Tuberöz skleroz, Bourneville hastalığı, Epiloia, İktiyozis vulgaris

COEXISTENCE OF TUBEROUS SCLEROSIS AND ICHTHYOSIS VULGARIS: CASE REPORT

Öz

Tuberous sclerosis is a rare autosomal dominant disorder. characterized by seizures, mental retardation, hamartomas and typical skin lesions. A 16-year old boy diagnosed with tuberous sclerosis was seen because of multiple papulles on his face. On physical examination multiple facial angiofibromas, hypopigmented macules on the body, shagreen patch on lumbosacral area and generalized scaling with flexural sparing were observed. Histopathology was consistent with ichthyosis vulgaris. Although tuberous sclerosis associates with various skin lesions, coexistence with ichthyosis vulgaris has not been reported previously

Anahtar Kelimeler

Tuberous sclerosis, Bourneville disease, Epiloia, Ichthyosis vulgaris

Kaynakça

• Curotolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372: 657-68.
• Jozwiak J, Galus R. Molecular implications of skin lesions in tuberous sclerosis. Am J Dermatopathol 2008; 30: 256-61.
• Jozwiak J, Jozwiak S, Wlodarski P. Possible mechanisms of disease development in tuberous sclerosis. Lancet Oncol 2008; 9: 73-9.
• Roach ES, Smith M, Huttenlocher P, Bhat M, Alcorn D, Hawley L. Diagnostic criteria, tuberous sclerosis complex: report of the diagnostic criteria committee of the national tuberous sclerosis association. J Child Neurol 1992; 7: 221-4.
• Osborne JP, Fryer A, Webb D. Epidemiology of tuberous sclerosis. Ann N Y Acad Sci 1991; 615: 125-7.
• Bourneville DM. Sclerose tubereuse der circonvolutions cerebrales: idiotie et epilepsie hemiplegique. Arch Neurol 1880; 1: 81-91.
• Fitzpatrick TB. History and significance of white macules, earliest visible sign of tuberous sclerosis. Ann N Y Acad Sci 1991; 615: 26-35.
• Pampiglione G, Moynahan EJ. The tuberous sclerosis syndrome: clinical and EEG studies in 100 children. J Neurol Neurosurg Psychiatr 1976; 39: 666-73.
• Reed WB, Nickel WR, Campion G. Internal manifestations of tuberous sclerosis. Arch Dermatol 1963; 87: 715-28.
• Schmuth M, Gruber R, Elias PM, Williams ML. Ichtiosis update: towards a function-driven model of pathogenesis of the disorders of cornification and the role of corneocyte proteins in these disorders. Adv Dermatol 2007; 23: 231-56.