By Gary M. White, MD
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.
The darkly pigmented macules (lentigines) typically appear in mid childhood and increase in number over time. 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 [Dermatology 1999;199;385]. Still others have had MLS in association with Marfan syndrome or Werner syndrome.
See multiple lentigines.
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.
Cafe au lait macules are common in multiple lentigenes syndrome.
A patient is presented with multiple cardiac abnormalities (EKG showing high R waves as well as ST depression, left ventricular hypertrophy and systolic ventricular overload), emphasizing the need to involve a cardiologist in the care of these patients. Mol Syndromol. Apr 2012; 2(6): 251–253
Ann Dermatol. 2011 May; 23(2): 232–235.
Homepage | FAQs | Use of Images | Contact Dr. White