性聯顯性遺傳的皮膚疾病 (X-linked dominant genodermatoses)

性聯顯性遺傳的皮膚疾病 (X-linked dominant genodermatoses)

台大皮膚科  王修含醫師

XD genodermatosis (可造成皮膚表現的遺傳性疾病)--遺傳性皮膚病 genodermatoses
個人記憶要訣整理(僅供參考)：COMPAGICA.BP.HK


圖：色素失禁症 incontinentia pigmenti，此為12天大的女嬰，處於水疱期(vesicular stage)的病灶。
       攝於台大醫院皮膚部。


圖：色素失禁症 incontinentia pigmenti，本照片具有明顯的嗜伊紅性海綿樣水腫，
        左圖: x40，右圖: x200，攝於台中榮民總醫院，張家華醫師提供。

CHILD syndrome (CHILD之全名：congenital hemidysplasia with ichthyosiform erythroderma and limb defects): NSDHL gene/ EBP
Oral-facial-digital syndrome, type 1 (OFD1)
MIDAS syndrome  (MIDAS之全名：microphthalmia, dermal aplasia and sclerocornea)
PHACE syndrome (PHACE之全名：posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities) (本病包括sporadic & XD兩類)
Albright hereditary osteodystrophy (variant) (本病包括AD & XD兩類)
Goltz syndrome = focal dermal hypoplasia (FDH)
Incontinentia pigmenti (IP): NEMO gene
Conradi-Hunermann syndrome = X-linked dominant chondrodysplasia punctata (CDPX2) :  EBP gene (emopamil-binding protein)
Aicardi syndrome (colobomas)


Bazex syndrome = follicular atrophoderma and basal cell carcinomas
PPK and spastic paraplegia = Charcot-Marie-Tooth disease with PPK and nail dystrophy (本病包括AD & XD兩類) (PPK = palmoplantar keratoderma)



congenital generalized Hypertrichosis
KFSD = keratosis follicularis spinulosa decalvans

參考文獻：http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gnd