An extremely rare hyperpigmentation, endocrine
anomalies, and mental retardation syndrome.
Patterson and Watkins originally described a
10-month-old boy who they thought had leprechaunism. However, in view of the
normal birth weight (rather than the usual severe intrauterine growth
retardation in leprechaunism) and marked cutis gyrata of hands and feet, as
well as a generalized skeletal disorder, they suggested the disorder is
distinct from leprechaunism. Since then the syndrome is characterized by
skeletal dysplasia, hyperpigmentation, cutis laxa, endocrine abnormalities,
and mental impairment. The boy also had hyperadrenocorticism and diabetes
mellitus. There is no insight as to the genetics or other etiology of this
Children are usually of normal birth weight. They
may have generalized skeletal abnormalities, hyperadrenocorticism, and
diabetes mellitus. In addition they have cutis gyrata of the hands and feet.
Case reports have noted bladder diverticula and marked enlargement of the
adrenal glands, especially of the zona fasciculata.
Obtain full history and examination.
Recent blood glucose and evaluation of sodium, potassium, and water balance
in view of possible hyperadrenocorticism. May have undiagnosed hypertension.
David TJ, Webb BW, Gordon IRS: The Patterson syndrome, leprechaunism, and
pseudoleprechaunism. J Med Genet