Koné-Paut I, Hesse S, Palix C, Rey R, Rémédiani K, Garnier J M, Berbis P
Department of Pediatrics, Hôpital Nord, Marseilles, France.
Pediatr Dermatol. 1998 May-Jun;15(3):219-21. doi: 10.1046/j.1525-1470.1998.1998015219.x.
The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports including three of vertical transmission and one of two affected sisters born from consanguineous, unaffected parents. We report for the first time a familial case of KID syndrome in two half siblings born to the same unaffected mother. This new observation allows us to propose various hypotheses about its mode of inheritance.
角膜炎、鱼鳞病和耳聋（KID）综合征是一种罕见的外胚层先天性疾病，其特征为弥漫性角化过度性红皮病、伴有角膜新生血管形成的角膜炎以及严重的神经感觉性听力丧失。四份报告中提到了该综合征的家族性发病情况，其中三份为垂直遗传，一份为两个患病姐妹出生于非近亲、未患病的父母。我们首次报告了同一未患病母亲所生的两个同父异母兄弟姐妹患KID综合征的家族病例。这一新发现使我们能够对其遗传方式提出各种假设。
