This young woman's parents noted lentigenes starting around age 3 and increasing through puberty.

MULTIPLE LENTIGINES SYNDROME (LEOPARD SYNDROME)

Multiple lentigines syndrome (MLS), aka Noonan syndrome with multiple lentigines and formerly LEOPARD syndrome, is a rare, autosomal dominantly inherited disease. Mutations in PTPN11, a gene encoding the protein tyrosine phosphatase SHP-2 located at chromosome 12q24, have been identified in patients with MLS. About 30% have mild intellectual impairment. There is a mild risk of hematologic malignancy, e.g. acute myeloid leukemia. MLS has been grouped under the RASopathies.

• Lentigines
• EKG abnormalities (Hypertrophic cardiomyopathy may be present as early as the prenatal period)
• Ocular hypertelorism
• Pulmonic stenosis
• Abnormal genitalia (e.g. cryptorchidism and hypospadias in boys)
• Retardation of growth (about 50% have short stature)
• Deafness

Clinical

The darkly pigmented macules (lentigines) typically start appearing in the first few years of life, usually by age 4 or 5. They tend to increase in number throughout childhood, peaking around puberty.

In contrast to freckles, they are not limited to sun-exposed areas. Café-au-lait spots occur as well and tend to develop before the lentigines, appearing within the first year of life. Only some of the noncutaneous findings may be present in any one patient. Some patients have been reported to have hyperelastic skin. Still others have had MLS in association with Marfan syndrome or Werner syndrome.

Treatment

A multidisciplinary approach to workup and treatment is necessary. Genetic counseling should be done. An EKG should always be obtained and a cardiologist involved in the patients care.

For the cutaneous lesions, laser therapy has been used.

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