Hereditory Pathology

Hereditary Pathology
Clinicians often do not recognize the genetic background of certain cases on basis of their presentation. In case of consultation of clinical geneticists several steps are taken, including documentation of the family history and verification of such data, including pathological data. The finding of characteristic clinical abnormalities in the involved patients are also crucial for further testing strategies. Classic examples are the skin abnormalities of the genodermatoses, the dysmorphic features of Cowden's disease, the mucosal pigmentation of the lips in Peutz-Jegher's syndrome, etcetera.

A weak link in this diagnostic system is data. There is an enormous variation in presentation of tumors arising in patients with a genetic predisposition. This is also seen at macroscopical/microscopical level. Textbooks only show classical cases. Histopathology of precursor lesions, clearly defined criteria for recognition or comparison with similar lesions on a sporadic basis are not well documented and if present not easily accessible from the current literature. There is a great need for centralized documentation systems that are easily and freely available.

The primary purpose of the Hereditary Pathology site is to give an overview of hereditary diseases in the context of disease classifications and to document cases and pathological variation concerning these, mostly well characterized, hereditary syndromes.

The Hereditary Pathology project was started around 2008 by professor Hans Morreau, pathologist in the Leiden University Medical Center (LUMC) in the Netherlands, during contact with hereditary pathological cases in daily practice.
Cases are ordered in case categories to increase clarity. Case categories are titled according to specific pathological entities or in the case of rare lesions of unknown association to the found syndrome, in a broader way. Cases are supplemented with links to a digital pathology database, provided by Philips Healthcare®.
We hope this website will be of use to the pathologist who (frequently) encounters lesions in hereditary syndromes but experiences a paucity of actual case reference material, and also for the clinician who wishes to gain a fast, comprehensible, overview of what hereditary syndromes are associated per lesion per organ, with links to relevant literature. Interested students and researchers are also warmly welcomed to the site.

Crick, Watson and Franklin's landmark paper was published exactly 50 years ago,
as of 2013. Sketched by Quentin Blake in 2009.

Clear cell renal carcinoma in
von Hippel-Lindau syndrome. Show picture.

Oral pigmented lesions in Peutz-
Jeghers syndrome. Show picture.

A Vietnamese man with an 80-kilo tumor of the leg in Neurofibroma-tosis, type 1. Show picture.

Cerebral arteriovenous malformation in
Hereditary hemorrhagic teleangiectasia (HHT). Show picture.