Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue syndrome (also known as leprechaunism). It is named for Dr. Joseph Hanan Patterson. It was described by Patterson and Watkins in 1962. The pathogenesis and cause of the Patterson syndrome was unknown until 1981.

Signs and symptoms

Patterson syndrome is characterized by the patient's having an unusual facial look, similar to that caused by leprechaunism. It primarily affects the connective tissue and the neuroendocrine system, giving rise to bronzed hyperpigmentation, cutis laxa of the hands and feet, bodily disproportion,

intellectual disability Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...

, and major bony deformities.

Radiograph Radiography is an imaging technique using X-rays, gamma rays, or similar ionizing radiation and non-ionizing radiation to view the internal form of an object. Applications of radiography include medical ("diagnostic" radiography and "therapeu ...

s reveal a characteristic generalised skeletal

dysplasia Dysplasia is any of various types of abnormal growth or development of cells (microscopic scale) or organs (macroscopic scale), and the abnormal histology or anatomical structure(s) resulting from such growth. Dysplasias on a mainly microscopic ...

. It comprises

endocrine The endocrine system is a messenger system in an organism comprising feedback loops of hormones that are released by internal glands directly into the circulatory system and that target and regulate distant organs. In vertebrates, the hypotha ...

abnormality, hyperadrenocorticism, cushingoid features, and

diabetes mellitus Diabetes mellitus, commonly known as diabetes, is a group of common endocrine diseases characterized by sustained hyperglycemia, high blood sugar levels. Diabetes is due to either the pancreas not producing enough of the hormone insulin, or th ...

. One other case has shown premature

adrenarche Adrenarche is an early stage in sexual maturation that happens in some higher primates (including humans), typically peaks at around 20 years of age, and is involved in the development of pubic hair, body odor, skin oiliness#Oily skin, skin oiline ...

Cause

Diagnosis

References

External links

Congenital disorders Genetic disorders with OMIM but no gene Rare syndromes Syndromes with intellectual disability Syndromes affecting the endocrine system Diseases named after discoverers {{genetic-disorder-stub