Patterson syndrome, also called pseudoleprechaunism, is an extremely rare syndrome, first mistaken as
Donohue Syndrome
Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. ''Leprechaunism'' derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the ...
(also known as
Leprechaunism
Donohue syndrome (also known as leprechaunism) is an extremely rare and severe genetic disorder. ''Leprechaunism'' derives its name from the hallmark elvish features (small stature, bulging eyes, thick lips, and upturned nostrils) exhibited by the ...
).
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
Cutis laxa or pachydermatocele is a group of rare connective tissue disorders in which the skin becomes inelastic and hangs loosely in folds.
Signs and symptoms
It is characterised by skin that is loose, hanging, wrinkled, and lacking in elast ...
of the hands and feet, bodily disproportion,
intellectual disability, 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 radiography ("diagnostic" and "therapeut ...
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 comprising feedback loops of the hormones released by internal glands of an organism directly into the circulatory system, regulating distant target organs. In vertebrates, the hypothalamus is the neur ...
abnormality,
hyperadrenocorticism,
cushingoid features, and
diabetes mellitus
Diabetes, also known as diabetes mellitus, is a group of metabolic disorders characterized by a high blood sugar level (hyperglycemia) over a prolonged period of time. Symptoms often include frequent urination, increased thirst and increased ap ...
. One other case has shown premature
adrenarche
Adrenarche is an early stage in sexual maturation that happens in some higher primates and in humans, typically peaks at around 20 years of age, and is involved in the development of pubic hair, body odor, skin oiliness, axillary hair, sexual ...
.
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
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