Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

Retinal fold

A wrinkle of retinal tissue projecting outward from the surface of the retina and visible as a line on fundoscopy.

Total: 2

(per page)

PMID (PMCID)
8729843	FEMALE	Infant, Newborn
	[Dragged disk syndrome. Review of etiologies. Apropos of a case].
	Barreau E, Cohen SY, Coscas G. J Fr Ophtalmol. 1996;19(1):58-63.
	Different aetiologies were discussed including retinopathy of prematurity, familial exudative vitreoretinopathy, congenital retinal folds, incontinentia pigmenti, Eales' disease, toxocariasis, combined hamartoma of the retina and the pigment epithelium.
7412165	FEMALE	Infant
	[Incontinentia pigmenti (Block-Sulzberger syndrome) associated with congenital retinal fold--a long-term 18-year observation].
	Fried M, Meyer-Schwickerath GM. Klin Monbl Augenheilkd. 1980;176(1):44-9.
	[Incontinentia pigmenti (Block-Sulzberger syndrome) associated with congenital retinal fold--a long-term 18-year observation].