Absract   Intracranial invasion of cellular blue nevus (CBN) from the skin is extremely rare   and such a condition with malignant transformation is even rarer. A case of   meningeal melanoma with malignant transformation which was derived from an Ota   nevus is presented in this report.   A21-year-old man with a neurocutaneous syndrome since childhood was referred   with headache and mild le...

Adaptor protein (AP) complexes regulate clathrin-coated vesicle assembly, protein cargo sorting, and vesicular trafficking between organelles in eukaryotic cells. Because disruption of the various subunits of the AP complexes is embryonic lethal in the majority of cases, characterization of their function in vivo is still lacking. Here, we describe the first mutation in the human AP1S1 gene, en...

Hypomelanosis of I to [HI] or Incontinentia pigmenti achromians [OMIM no. 146150]. Ito first introduced the syndrome 1951 [1]. It is a rare neurocutaneous syndrome that involves mainly skin and nervous system symptoms in 75 % of cases and may be associated with multiple organ systems involvement including the head and face, eyes (microphthalmia, cataracts, optic atrophy, and retinal detachment)...

A rare cause of clitoral hypertrophy in a child is neurofibromatosis type 1 (NF1). Although evaluation, including karyotype and hormonal studies, is necessary to exclude ambiguous genitalia, the diagnosis of neurofibromatosis as a possible cause of clitoromegaly may help avoid lengthy and sometimes invasive interventions.