Multiple Lentigines: A Case with New Associations 

T.P. Yadav

R.K. Gautam*

From the Departments of Pediatrics and Dermatology*, Dr. Ram Monohar Lohia Hospital, New Delhi, India.

Revision Accepted: March 18, 1999

Lentigines are small (usually <3 cm) circumscribed, dark brown macules that can appear anywhere on the body. They are not related to sun exposure and do not fade(1). Multiple or generalized lentigines occur without associated abnormalities (Lentiginosis profusa)(1) or with abnormalities like in "LAMB" syndrome(2), Carney's complex(3) and multiple lentigines (LEOPARD) syndrome(4). We report a girl with multiple lentigines, dysmorphic face and clitoro-megaly, hitherto unreported.

Case Report

A seven-year-old girl was brought withmultiple brownish black spots of varying sizes, increasing in number since birth. She was the first live baby to a second gravida mother born by Caesarean section. The pre-natal, natal and postnatal periods were uneventful. At birth she was noticed to have two brownish spots of 1-1.5 cm over neck and right leg. Since then the number of these spots has increased gradually involving the whole body.

There was no history of salt craving, polydypsia, polyuria, polyphagia, cyanosis, palpitation, dyspnea on excertion, seizures or any hearing problem. She has been using spectacles since last two years, being hypermetropic by +6 diaptors. She did not suffer any major illness in the past. Her development has been normal. The family history identified this child as the only case in last three generations. There was no history of consanguinity. The examination revealed a fairly intelligent child of average built. Her weight, height and head circumference were between 25th and 50th centile for her age. She had a fish mouth appearance and a high arched palate. The ears, pupils, hair, nails and teeth were normal. The examination of respiratory, nervous system and abdomen did not reveal any abnormality. There was a grade II ejection systoloic murmur in the pulmonary area. The heart sounds were normal and there was no ejection click. Her external genitalia revealed no hair, normal prepubertal labia and normally placed urethral opening. However, clitoris was enlarged (24´28 mm) (Fig. 1)

Fig. 1. Large clitoris.

Dermatological examination revealed: (a) a brown irregular macule 5 cm in size over right leg, (b) three macules of size 1.5-3 cm over right leg, right thigh and back, (c) thirteen macules of 1-1.3 cm over neck, chest, abdomen, arm and back, and (d) multiple small 2-6 mm black spots distributed over the whole body (Fig. 2).

Fig. 2. Multiple hyperpigmeneted macules (Lentigines) of varying sizes seen all over the body.

All these hyperpigmented spots were not raised above the surface and non-pruritic. Her IQ on Stanford Binet test was 90. Investigations revealed a normal hemogram, normal serum levels of bilirubin, transaminases, alkaline phosphatase, immunoglobulins, LH, FSH, DHEAS, cortisol, sodium, potassium, creatinine and normal blood levels of urea and sugar. The examination of urine, including levels of 17-hydroxyprogesterone, were normal. The skiagram of chest, electrocardiography, echocardiography, audiometry, direct ophthalmoscopic examination and ultrasonography of abdomen and pelvis did not reveal any abnormality. Histological examination of the skin showed elongated rete-ridges with increased number of melanocytes and dense deposits of melanin in epidermis.

Discussion

The mnemonic syndrome LEOPARD was first coined by Gorlin in 1969 and comprised of generalized symmetric distribution of lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary steno-sis, abnormal genitalia, growth retardation and sensorineural deafness(4). Later on, the spectrum of abnormalities was increased by various authors. The cardiac abnormalities added were septal hypertrophy with obstructive cardiomyopathy, conduction disturbance, ventricular hypertrophy, aortic stenosis, atrial septal defect, atrial myxoma. The genitalia abnormality included hypogonadism, cryptor-chidism and the ocular included hypertelo-rism, nystagmus(5-9). The inheritance of LEOPARD syndrome is reported to be autosomal dominant(5-9).

The "LAMB" syndrome consists of mucocutaneous lentigines, cardiac myxoma, cutaneous myxomas and blue naevi(2). The Carney's complex comprises of centrofacial lentigines, atrial myxoma, buccal and mucosal myxoma, and endocrine overactivity, e.g., Cushings syndrome and pituitary adenomas(3).

The present case does not fit into any of  these three syndromes. The association of clitoromegaly, hypermetropia, high arched palate and fish-mouth with multiple lengitines has not been reported earlier.

This case is the 2nd case of multiple lentigines reported in Indian literature, to the best of our knowledge, but with a different association. The first case was associated with hypertrophic obstructive cardiomyopathy, mental retardation, pectus excavatum and incurving of little finger(9).

The exact causation of lentigines is not known. However, it is important to the pediatricians to differentiate lengtigines from relatively innocuous Freckles (ephelides) which are light or dark brown macules that occur in sun exposed areas only, induced by exposure to sun particularly during the summer, usually in fair skinned persons and may fade or disappear during winter. Freckles are not associated with any disease. But widespread lentigines serve as a window to certain congenital internal disorders which may be lethal potentially. Hence it is prudent to examine and investigate in detail a patient of multiple lentigines to pick up the serious associations timely, and these patients should be followed up for long periods, since defects may not become clinically manifest for many years.