Patterson pseudoleprechaunism syndrome
Encyclopedia
Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as Donohue Syndrome
Donohue syndrome
Donohue syndrome is an extremely rare and severe genetic disorder. Leprechaunism derives its name from the fact that those afflicted with the disease often have elfin features and are smaller than usual...

 (also known as Leprechaunism).

It is named for Dr. Joseph Hanan Patterson. It was described by Patterson and Watkins in 1962.

The pathogenesis and etiology of the Patterson syndrome was unknown as of 1981.

Characteristics

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
Cutis laxa
Cutis laxa is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.-Causes:In most cases, cutis laxa is inherited...

 of the hands and feet, bodily disproportion, severe mental retardation, and major bony deformities. Radiographs reveal a characteristic generalised skeletal dysplasia
Dysplasia
Dysplasia , is a term used in pathology to refer to an abnormality of development. This generally consists of an expansion of immature cells, with a corresponding decrease in the number and location of mature cells. Dysplasia is often indicative of an early neoplastic process...

.

It comprises endocrine abnormality, hyperadrenocorticism, cushingoid features, and diabetes mellitus
Diabetes mellitus
Diabetes mellitus, often simply referred to as diabetes, is a group of metabolic diseases in which a person has high blood sugar, either because the body does not produce enough insulin, or because cells do not respond to the insulin that is produced...

. One other case has shown premature adrenarche
Adrenarche
Adrenarche is an early sexual maturation stage in some higher primates that in humans typically occurs at around 6 to 8 years of age. During adrenarche the adrenal cortex secretes increased levels of androgens such as DHEA and DHEAS, but without increased cortisol levels. Adrenarche is the result...

.
The source of this article is wikipedia, the free encyclopedia.  The text of this article is licensed under the GFDL.
 
x
OK