Multiple lentigenes syndrome

Multiple lentigenes : Present all over body sparing mucous membranes.

Multiple lentigenes : Present all over body sparing mucous membranes.

Introduction

Multiple lentigenes are associated with wide range of developmental defects. It js determined by autosornal dominant gene with variable expressivity.[1] Gorlin et al[2] gave the mnemonic term LEOPARD syndrome from the principal components of this syndrome, letter denotes. L-lentigenosis, E-electrocardiographic defects, O-Ocular hypertelorism, P-pulmonary stenosis, A-abnormalities of genitalia, Rretardation of growth, D-deafness. Of these cardiac and cutaneous involvement are more frequent.[3] Lentigenes usually present at birth or start developing at early life and increase in number up to the puberty. They mainly involve the neck and upper trunk but may extend to other parts including scalp, genitalia, palms and soles. The mucous membranes are usually spared.[3] Cardiac abnormalities include conduction defects, pulmonary stenosis, subaortic stenosis, and obstructive cardjomyopathy.[3]

Case Report

A 23-year-old male presented with multiple light brown to dark brown flat lesions of variable sizes ranging from 2-5mm. These lesions were present over body sparing mucous membranes. At birth lesions were present over left side of the neck and medial side of the neck and medial side of left thigh. The lesions progressively increased in numbers and invoived all body parts including plams and soles. [Figure - 1]

Examination revealed: height 160 cm, weight 38 kg., normal intelligence, multiple lentigenes present all over body except mucous membranes, hyperelastic skin, hypermobile metacarpophalangeal joints, no abnormalities of the eye, ear and genitalia. Histopath- ological examination of hyperpigmented macular lesion revealed features of lentigenosis. Clinical, electrocardiographic and echocardio- graphic findings were suggestive of pulnomary stenosis. All routine investigations viz haematologic, liver function tests, urinalysis were within normal limits.

Discussion

Although multiple lentigenes syndrome has been named as LEOPARD syndrome this is very variable syndrome, having a wide range of manifestations. Voron et al[4] tried to enlist all possible abnormalities: cutaneous, cardiac, neurologic, ocular, cephalofacial dysmorphism, stature, and skeletal. Of these, cutaneous and cardiac abnormalities are more frequent.[3] That is why, this syndrome is also known as cardio-cutaneous syndrome.[5] Guha et al[5] also reported a case of incomplete leopard syndrome with lentigenosis, vitiliginous patch over left half of face, hypertrophic cardiomyopathy, short stature, spina bifida oculta, hypertelorism, epistaxis. Several patients with this syndrome have died at an early age from obstructive cardiomy- opathy.[1] Hence it is suggested that in case of multiple lentigenes investigations to rule out cardiac abnormalities must be carried out.