Öz
Incontinentia pigmenti is a rare X-linked dominant neurocutaneous syndrome with dermatologic, ophthalmologic and dental manifestations. More than half of patients have syndromes affecting central nervous system such as epilepsy, spastic paresis, mental retardation, microcephaly and cerebellar attaxia. Most of neurological diagnoses in incontinentia pigmenti cases depend on changes due to brain damage and hypogonadotropic hypogonadism can be seen in those patients because of ischemic or inflammatory processes preventing the work of hipotolamo-hypofizer axes. This case presentation argues incontinentia pigmenti with diagnois of hypogonadotropic hypogonadism.
Anahtar Kelimeler
Incontinentia pigmenti hypogonadotropic hypogonadism amenorrhea
Kaynakça
- Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47:169- 187.
- Pereira MA, Mesquita LA, Budel AR, Cabral CS, Feltrim Ade S. X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report. An Bras Dermatol 2010;85:372-375.
- Cohen PR, Kurzrock R. Miscellaneous genodermatoses: Beckwith- Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. Dermatol Clin 1995;13:211–229
- Kim BJ, Shin HS, Won CH, Lee JH, Kim KH, Kim MN, Ro BI, Kwon OS. Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci 2006;21:474-477.
- Buinauskiene J, Buinauskaite E, Valiukeviciene S. Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. Medicina (Kaunas) 2005;41:496-499.
- Alexander L. Berlin, Amy S. Paller, Lawrence S. Chan. Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47:169-187.
- Hubert JN, Callen JP: Incontinentia pigmenti presenting as seizures. Pediatr Dermatol 2002;19:550-552.
- Waldstreicher J, Seminara SB, Jameson JL, et al: The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab.1996;81:4388-4395.
Öz
İnkontinentia pigmenti, cilt, diş, göz ve merkezi sinir sistemini tutabilen, X’e bağlı dominant kalıtım gösteren nadir bir nörokutanöz hastalıktır. Hastaların yarısından fazlasında epilepsi, spastik felç, mental retardasyon, mikrosefali ve serebellar ataksi gibi santral sinir sistemi belirtileri görülmektedir. İnkontinentia pigmenti olgularındaki nörolojik bulguların çoğu beyin hasarına bağlı değişiklikleri yansıtmaktadır ve hipotalamo-hipofizer aksın çalışmasını engeleyen iskemik veya inflamatuar süreçlere bağlı olarak bu hastalarda hipogonadotropik hipogonadizm de görülebilmektedir. Bu olgu bildiriminde hipogonadotropik hipogonadizm tanısı almış inkontinentia pigmenti olgusu tartışılmıştır.
Anahtar Kelimeler
İnkontinentia pigmenti hipogonadotropik hipogonadizm amenore
Kaynakça
- Berlin AL, Paller AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47:169- 187.
- Pereira MA, Mesquita LA, Budel AR, Cabral CS, Feltrim Ade S. X-linked incontinentia pigmenti or Bloch-Sulzberger syndrome: a case report. An Bras Dermatol 2010;85:372-375.
- Cohen PR, Kurzrock R. Miscellaneous genodermatoses: Beckwith- Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. Dermatol Clin 1995;13:211–229
- Kim BJ, Shin HS, Won CH, Lee JH, Kim KH, Kim MN, Ro BI, Kwon OS. Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci 2006;21:474-477.
- Buinauskiene J, Buinauskaite E, Valiukeviciene S. Incontinentia pigmenti (Bloch-Sulzberger syndrome) in neonates. Medicina (Kaunas) 2005;41:496-499.
- Alexander L. Berlin, Amy S. Paller, Lawrence S. Chan. Incontinentia pigmenti: A review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47:169-187.
- Hubert JN, Callen JP: Incontinentia pigmenti presenting as seizures. Pediatr Dermatol 2002;19:550-552.
- Waldstreicher J, Seminara SB, Jameson JL, et al: The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. J Clin Endocrinol Metab.1996;81:4388-4395.
Ayrıntılar
| Birincil Dil | Türkçe |
|---|---|
| Bölüm | Case Report |
| Yazarlar | |
| Yayımlanma Tarihi | 1 Eylül 2015 |
| Yayımlandığı Sayı | Yıl 2015 Cilt: 12 Sayı: 5 |