Leopard syndrome differential diagnosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Overview
Cutaneous manifestations of LEOPARD syndrome may be similar to several other conditions including McCune-Albright syndrome, Carney syndrome, and neurofibromatosis. LEOPARD syndrome should also be distinguished from other syndromes with developmental delay, short stature, congenital heart defects, and distinctive facies, especially Williams syndrome.
Differentiating LEOPARD Syndrome From Other Diseases
- The hallmark symptom of McCune-Albright syndrome is precocious puberty. Other symptoms include bone fractures, deformities of the bones in the face, gigantism, and irregular, large patchy café-au-lait spots, especially on the back.
- Coexistence of several neoplasms, including gastric epithelioid leiomyosarcoma, pulmonary chondroma, and extra-adrenal paraganglioma. Other symptoms may be involved like Cushing syndrome symptoms, Symptoms of a prolactin-secreting tumor include hypogonadism (eg, amenorrhea, impotence) associated with symptoms of increased prolactin levels (eg, galactorrhea) in female patients.
- A lentigo is a small pigmented spot on the skin with a clearly-defined edge, surrounded by normal-appearing skin. It is a harmless (benign) hyperplasia of melanocytes which is linear in its spread.
- Neurofibromatosis is a genetically-inherited disease in which nerve tissue grows tumors (e.g. neurofibromas), it may be may be harmless or may cause serious damage by compressing nerves and other tissues.
- Williams syndrome (also Williams-Beuren syndrome)
- A rare genetic disorder characterized by a distinctive, "elfin" facial appearance, along with a low nasal bridge, an unusually cheerful demeanor and ease with strangers, coupled with unpredictably occurring negative outbursts. Mental retardation coupled with unusual (for persons who are diagnosed as mentally retarded) language skills, a love for music, and cardiovascular problems, such as supravalvular aortic stenosis and transient hypercalcaemia.