A 52-year-old woman presented with a 10-year-history of memory loss and executive dysfunction. Examination disclosed hypopigmented whorls and linear streaks following the lines of Blaschko in different body segments (Figure 1), typical of Hypomelanosis of Ito (HI). Brain MRI showed marked enlarged Virchow-Robin spaces (Figure 2). HI or incontinentia pigmenti achromians (MIM#300337) represents a...

A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) exces...

X-linked reticulate pigmentation disorder with systemic manifestations (XLPDR) is an extremely rare genodermatosis with recessive X-linked inheritance but unknown molecular basis. In males, cutaneous involvement is characterized by reticulate hyperpigmentation of the skin that is associated with a typical facies and severe systemic involvement. In the carrier females, manifestations are apparen...

THE Bloch-Sulzberger syndrome is a familial condition consisting chiefly of ectodermal defects, of which changes in the skin, nails, hair, teeth, central nervous system, and eyes are the most common. The final dermal phase "incontinentia pigmenti" has received the most attention. This disease can be described as a rare and peculiar abnormality of development found almost exclusively in females ...