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Multiple lentigines syndrome in Adult
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Multiple lentigines syndrome in Adult

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Contributors: Chris G. Adigun MD, David Dasher MD, Lowell A. Goldsmith MD, MPH
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Synopsis

The multiple lentigines syndrome, also known as Noonan syndrome with multiple lentigines, LEOPARD syndrome, Gorlin syndrome II, cardio-cutaneous syndrome, lentiginosis profuse syndrome, and progressive cardiomyopathic lentiginosis, is one of the familial lentiginosis syndromes, a group of genetic disorders that are characterized by the presence of multiple lentigines as well as an increased incidence of cardiovascular, endocrine, and gastrointestinal neoplasias.

LEOPARD is an acronym for multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Some patients with this condition may also exhibit mild intellectual disability or speech difficulties. This syndrome occurs as a result of a mutation in the Noonan syndrome gene (a condition to which it is allelic), PTPN11. As a result, patients with LEOPARD syndrome commonly share clinical features with people who have Noonan syndrome. Although most cases result from sporadic mutations, the syndrome follows an autosomal dominant pattern of inheritance.

Lentigines present as small, asymptomatic, well-circumscribed, symmetric, homogenous, hyperpigmented macules. In LEOPARD, lentigines are usually small, < 5 mm in size, and tend to predominate on the trunk, but other areas may be involved, such as the palms, soles, buccal mucosa, genitalia, and scalp. Individual larger pigmented macules ranging in size from 1 to 1.5 mm may also be present. Patients tend to have a "speckled" appearance. Lentigines generally occur early in life (may be present at birth) and are not associated with sun exposure. Lentigines found on mucous membranes can be deeply pigmented, with increased size and irregular borders.

For more information, see OMIM.

Codes

ICD10CM:
Q78.8 – Other specified osteochondrodysplasias

SNOMEDCT:
111306001 – Multiple lentigines syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

  • Carney complex / LAMB – lentigines (mucous membranes, lips, face, external genitalia), atrial myxoma, mucocutaneous myxoma, and blue nevi
  • Peutz-Jeghers syndrome (PJS) – lentigines (perioral and oral), multiple gastrointestinal polyps, and visceral tumors (pancreas, ovary, testes)
  • Cronkhite-Canada syndrome – lentigines (buccal mucosa, face, palmoplantar), alopecia, nail dystrophy, and intestinal polyps
  • Touraine centrofacial lentiginosis – lentigines (central face and lips, spares mucosa, none elsewhere), bone abnormalities, dysraphia, endocrine disorders, neurologic disease
  • Inherited patterned lentiginosis in black patients – lentigines (central face, hands, feet, buttocks; spares mucous membranes), no other associated systemic abnormalities
  • Segmental and agminated lentiginosis – may have no associated systemic manifestations
Other rare disorders associated with multiple lentigines:
  • Generalized lentigines
  • Arterial dissection with lentiginosis
  • Laugier-Hunziker syndrome
  • Cantú (hyperkeratosis-hyperpigmentation) syndrome
  • Cowden disease
  • Bannayan-Riley-Ruvalcaba syndrome
  • Nevus spilus – appears as a circumscribed patch of light brown hyperpigmentation with smaller, darker pigmented macules or papules within the patch
  • Café-au-lait macule is larger, even-colored, and present from early childhood.
  • Constitutional mismatch repair-deficiency (CMMR-D) – a childhood cancer syndrome; café-au-lait macules, with or without other signs of neurofibromatosis type 1, are present in almost all patients
Dark skin patient considerations:
Numerous centrofacial lentigines in an individual of African descent are likely due to inherited patterned lentiginosis. This is a benign disorder that is inherited as an autosomal dominant trait, and thus patients will ordinarily have a positive family history. PJS has been observed in all races and ethnicities; therefore, PJS should be considered in the differential diagnosis of inherited centrofacial lentiginosis.

In older patients:
  • Solar lentigo – typically occurs on sun-exposed surfaces with increasing age and is less regular in appearance
  • An oral mucosal dark macule may be difficult to distinguish from an amalgam tattoo.

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Therapy

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References

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Last Updated: 10/19/2018
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Multiple lentigines syndrome in Adult
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Multiple lentigines syndrome : AV conduction abnormality, Hypertelorism, Pectus excavatum, Hyperpigmented macules
Clinical image of Multiple lentigines syndrome
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