16 Yaşında Bir Erkek Olguda Pakionişi Konjenita\'nın Klinik Bulguları

Year 2010, Volume: 3 Issue: 2, 26 - 29, 01.06.2010

R. Özgür Rosti Serhat İnalöz Kamile Erciyas Sacide Pehlivan

Abstract

Abstract Clinical Manifestations of Pachyonychia Congenita in a 16 Year Old Boy Pachyonychia congenita is an autosomal dominant syndrome with the hallmark findings of dystrophic fingernails and toenails, palmoplantar keratosis and hyperhidrosis, oral leukokeratosis and follicular keratosis. Dystrophic finger and toe nails are present at birth. However, clinical findings such as oral leukokeratosis, palmoplantar keratosis and folicular keratosis appear at later stages. The disease, which is transmitted as an autosomal dominant trait, has medical consequences such as hoarsening of voice and dysfagia due to eusophagial and posterior comissural involvement of larynx other than the obvious cosmetic consequences. In this case study, a 16 year old boy with the typical findings of the syndrome such as dystrophic hand and finger nails, oral leukokeratosis and folicular keratosis will be discussed.

Keywords

pachyonychia congenita; KRT6A; palmoplantar keratosis; oral leukokeratosis.

16 Yaşında Bir Erkek Olguda Pakionişi Konjenita\'nın Klinik Bulguları

Abstract

Türkçe Özet: Pakionişi konjenita; ana bulguları distrofik el ve ayak tırnakları, palmoplantar keratoz, hiperhidroz, oral lökokeratoz ve foliküler keratoz olan otozomal dominant kalıtılan bir sendromdur. Distrofik el ve ayak tırnakları doğumda var olup; oral lökokeratoz, palmoplantar keratoz ve foliküler keratoz gibi diğer bulgular ilerleyen seneler içinde ortaya çıkar. Otozomal dominant kalıtım modeli ile seyreden bu hastalıkta kozmetik sorunlar dışında dikkat edilmesi gereken tıbbi hususlar, ilerleyen dönemlerde larinksin posteriyor komissür tutulumu ve özefagiyal tutulum nedeniyle seste kısılma ve disfaji görülmesidir. Bu olgu sunumunda, sendromun tipik bulguları olan distrofik el ve ayak tırnakları, oral lökokeratoz ve foliküler keratozu bulunan 16 yaşında bir erkek olgu sunulacaktır.

Keywords

pakionişi konjenita; KRT6A; palmoplantar keratoz; oral lökokeratoz

References

• l. Gorlin R]. Cohen MM. Hennekam RCM. Syndromes Affecting the Skin and Mucosa. In: Gorlin RJ. Cohen MM. Hennekam RCM eds. Syndromes of the Head und Neck. 4th ed. New York: Oxford University Press: EGOI. p.532-6. [*J Bowden I’li. Haley .lli. Kunsky A.Rothrtugel JA,.lones DO, Turner RJ. Mutation of a type ll keratin gene (Kon) in paehyonyehia eongenita. Nrt Geum |9951|U:363—5.
• liLIjimoto W, Nakanishi G. Hirakawa S. Nakaııislti 'l'. Shimo T. Takigawu M at al. Paehynnyehia congenita type 2. keratin I'ı' mutations in a Japanese ease. . Am Amr Dvr-mam |998; 38: I007-9.
• McLean WII. Rugg EL. Lunny DP, Morley SM, Lane EB, Swensson 0 et al. Koral'ın l('ı and keratin 17 mulalions cause paehyonyehia congenital. Nor Genet I995;9:273—8. (1.
• Thormaıın .l. Kohayasi T. Pacliyonyehia congenita
• Jadassohn- Lewandowsky: A disorder of keratinization.
• Acta Derm Venera 1977:57:53-7.
• Su WP. Chun Sl. Hammond DE. Gordon H.
• l’aehyonychia eongenita: A. Clinical study of l2 cases
• and review ol' the literature. Pediatr Del-mum I990ı7r33—8.
• Moldenhuuer E. Ernst K. Das _ladassohn—Lewandtıwsky—
• Syndrom, Hatıtaı'zt l968; I9z44 | -7.
• Stieglitz JB. Centerwall WR. Paehyonşehia eongenita
• (.Iadassohn—Lewunrtdowsky syndrome]: A aevenleen
• member. four generation pedigree with unusual
• respiratory and dental involvement Am J Med Geile l983: l4:2l—8.