Nadir Bir Genetik Hastalık: Pakionişya Konjenita Tip 2

Year 2013, Volume: 7 Issue: 4, 193 - 195, 01.12.2013

Dilek Azkur Mustafa Erkoçoğlu Ersoy Civelek Gülen Eda Ünite Can Naci Kocabaş

Abstract

Pakionişi konjenita (PK), nadir görülen kalıtsal ektodermal hastalık olup temel olarak hipertrofik tırnak distrofisi ve fokal palmoplantar keratoderma ile karakterizedir. Hastalık PK-1 ve PK-2 şeklinde keratin genindeki mutasyonlarla korelasyon gösteren iki klinik alt gruba ayrılmaktadır. Her ne kadar her iki grubun en belirgin klinik özelliği hipertrofik tırnak distrofisi olsa da, oral lökokeratozis genellikle PK-1’de görülürken, PK-2 ise sıklıkla tırnak distrofisi, yaygın steatosistoma, natal diş ve saç anomalileri ile prezente olur. Burada PK-2’nin klasik bulguları ile prezente olmuş ve ailesinde dört kuşağı etkilenmiş olan bir olgu sunulmuştur.

Keywords

Çocuk, Keratin, Tırnak, Pakionişi konjenita, Palmoplantar keratoderma

A Rare Genetic Disease: Pachyonychia Congenita Type 2

Abstract

Pachyonychia congenita (PC) is a rare inherited ectodermal disorder characterized mainly by hypertrophic nail dystrophy and focal palmoplantar keratoderma. Pachyonychia congenita can be divided into two main clinical subtypes, PC-1 and PC-2, which are correlated with mutations in keratins. Although the most prominent clinical feature of both PC subtypes is hypertrophic nail dystrophy, oral leukokeratosis is usually seen in PC-1 while PC-2 generally presents with nail dystrophy, widespread steatocystomas, natal teeth and hair abnormalities. We report a patient with PC type II presenting with the classical features of the disease that had been transmitted for four generations

Keywords

Child, Keratin, nail, Pachyonychia congenita, Palmoplantar keratoderma

References

• Smith F. The molecular genetics of keratin disorders. Am J Clin Dermatol 2003;4:347-64.
• leachman SA, Kaspar Rl, Fleckman P, Florell SR, Smith FJ, Mclean WH, et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc 2005;10:3-17.
• Smith FJ, liao H, Cassidy AJ, Stewart A, Hamill KJ, Wood P, et al. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc 2005;10:21-30.
• Jadassohn J lF. Pachyonychia congenita. Keratosis Disseminata Circumscripta (follicularis). Tylomata. In: neisser A (ed). leuko- keratosis linguae, in Ikonographia Dermatologica. J.E.e., Berlin: urban & Schwarzenberg, 1906:29-31.
• Jackson AD, lawler SD. Pachyonychia congenita; A report of six cases in one family, with a note on linkage data. Ann Eugen 1951;16:142-46.
• Kökçam i, uyar B. Bir Pakionişi Konjenita olgusu. T Klin Dermatoloji 1998:8:106-9.
• Hannaford RS, Stapleton K. Pachyonychia congenita tarda. Australas J Dermatol 2000;41:175-7.
• Xiao SX, Feng YG, Ren XR, Tan SS, li l, Wang JM, et al. A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2. J Invest Dermatol 2004;122:892-5.
• Smith FJ, Hansen CD, Hull PR, leachman SA, Kaspar Rl, Schwartz ME, et al. Pachyonychia Congenita. Gene Reviews. [cited 26 July, 2012; Available from: http://www.ncbi.nlm.nih.gov/ books/nBK1280/.
• Scholz IM, Helmbold P. Pachyonychia congenita type 2. J Dtsch Dermatol Ges 2011;9:144-45.
• Connors JB, Rahil AK, Smith FJ, Mclean WH, Milstone lM. Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16. Br J Dermatol 2001;144:1058-62.
• Vaccaro M, Guarneri F, Barbuzza O, Guarneri C. Pachyonychia congenita tarda affecting only the nails. Dermatol Online J 2008;14:12.
• Milstone lM, Fleckman P, leachman SA, leigh IM, Paller AS, van Steensel MA, et al. Treatment of pachyonychia congenita. J Investig Dermatol Symp Proc 2005;10:18-20.
• Hickerson RP, Smith FJ, Reeves RE, Contag CH, leake D, leachman SA, et al. Single-nucleotide-specific siRnA targeting in a dominant negative skin model. J Invest Dermatol 2008;128:594- 605.
• Hickerson RP, leake D, Pho lH, leachman SA, Kaspar Rl. Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients. J Dermatol Sci 2009;56:82-8.
• Swartling C, Vahlquist A. Treatment of pachyonychia congenita with plantar injections of botulinum toxin. Br J Dermatol 2006;154: 763-65.