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An extremely rare hyperpigmentation, endocrine anomalies, and mental retardation syndrome.

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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 disorder.

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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.

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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 18:294, 1981.  [PubMed: 7277424]

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