Partial Albinism. Splenomegaly

Albinism, Partial Albinism, and Vitiligo

Albinism, partial albinism, and vitiligo are three clinically distinct conditions having in common a deficiency of melanin pigment. As such they present the physician with the same basic problems-cosmetically disfiguring lesions and extreme sensitivity to sunlight of the involved areas. None of the diseases is itself an immediate threat to life, but the social disabilities, especially among dar...

Partial splenectomy for massive splenomegaly secondary to Gaucher's disease.

A 16 year old girl with Type 1 Gaucher's disease presented with massive splenomegaly, hypersplenism and abdominal discomfort. Traditionally hypersplenism has been treated with splenectomy, but this results in a high incidence of overwhelming sepsis and accelerated sphingolipid deposition in both liver and bone. A 90% partial splenectomy was therefore performed leaving a fully vascularized infer...

Splenomegaly, hypersplenism, and hereditary disorders with splenomegaly

Splenomegaly, sometimes of massive extent, occurs in a large number of hereditary diseases, some relatively prevalent and others, rare to ultra-rare. Because physicians are often unfamiliar with the less common disorders, patients may suffer because of diagnostic delay or diagnostic error and may undergo invasive, non-innocuous procedures such as splenectomy that are potentially avoidable were ...

Oculocutaneous albinism

Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...

Bengal Splenomegaly