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Medical Education Section

What are all these spots on this woman's chest?

30 year old woman with multiple spots all over her body. She also mild cardiac conduction defects, pulmonary stenosis and a mild hearing deficit. Her father has a similar condition with wide set eyes and slightly below average IQ.


What is your diagnosis?


leopard syndrome


leopard syndrome case 2


leopard


leopard syndrome image


leopard syndrome image


leopard syndrome skin condition
Diagnosis:

LEOPARD Syndrome

LEOPARD Syndrome is also known as multiple lentigines syndrome, cardiocutaneous syndrome, and lentiginosis profusa syndrome.

Manifestations and Major Findings:

L - Lentigines primarily located on the face and upper trunk
E - Electrocardiographic abnormalities, especially conduction defects
O - Ocular hypertelorism
P - Pulmonary stenosis
A - Abnormal genitalia including undescended testes, hypospadias, gonadal hypoplasia
R - Retardation of growth
D - Deafness of a sensorineural type

Other findings include lowset ears, abnormal dermatoglyphics, dental defects, webbing of the fingers, renal aplasia, and mandibular prognathism. LEOPARD syndrome is an autosomal dominant trait with variable expressivity.

References

  1. An Illustrated Dictionary of Dermatologic Syndromes by Bayliss and Mallory
  2. Faulk CS, Primary Disorders of Hyperpigmentation. Journal of the American Academy of Dermatology 1984;10:1-16.
  3. Gorlin RJ, Anderson RC, Blaw M: Multiple Lentigines Syndrome. American Journal of Dis Child, 1969; 12:652-662.
  4. Nordlund JJ, Learner AD, Braverman IM, McGuire JS: The Multiple Lentigines Syndrome. Archives of Dermatology 1973; 107:249-261.
  5. Selmanowitz VJ, Lentiginosis Profusa Syndrome, Archives of Dermatology 1971; 104: 393-401
  6. Uhle P, Norvell SS: Generalized Lentiginosis Journal of the Academy of Dermatology 1988; 18:444-447.



 


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