Hermansky Pudlak Syndrome Type 2:A Rare Case Report.

Hermansky-Pudlak Syndrome (HPS) is a rareautosomal recessive disorder characterized byOculocutaneous Albinism (OCA), platelet disorder,and ceroid accumulation. It is common in North WestPuerto Rico region, and the incidence reported is1/500000. It is a rare genetic disorder with plateletdysfunction resulting in bleeding diathesis. Here wereport one such rare case of HPS type 2 in a 7-year-oldboy with difficulty in chewing.

Lamellar Ichthyosis: A Rare Mucocutaneous Disease.

Lamellar Ichthyosis is a rare genodermatotic condition, which occurs due to the mutation in the transglutaminase-1gene. It is a rare disease with a global prevalence of 1 in 300000 live births with no specific . gender predilection It is a rare genetic disorder with a characteristic fish scale appearance of the skin. Here we report one such rare case of Lamellar Ichthyosis in a 7- year-old girl reported to us with difficulty in chewing.