|Year : 1991 | Volume
| Issue : 3 | Page : 144-145
Progressive cardiomyopathic lentigenosis
KP Guha, NJ Barbhulya, GS Maity
K P Guha
Source of Support: None, Conflict of Interest: None
A new case of progressive cardiomyopathic lentigenosis is presented. The major feature of this patient are cutaneous abnormality, hypertrophic cardiomyopathy, cephalofacial dysmorphism, short stature and recurrent epistaxis.
Keywords: Progressive cardiomyopathic lentiginosis, Leopard syndrome
|How to cite this article:|
Guha K P, Barbhulya N J, Maity G S. Progressive cardiomyopathic lentigenosis. Indian J Dermatol Venereol Leprol 1991;57:144-5
|How to cite this URL:|
Guha K P, Barbhulya N J, Maity G S. Progressive cardiomyopathic lentigenosis. Indian J Dermatol Venereol Leprol [serial online] 1991 [cited 2020 Apr 7];57:144-5. Available from: http://www.ijdvl.com/text.asp?1991/57/3/144/3652
Progressive cardiomyopathic lentiginosis is a disease of dysmorphism signs affecting multiple systems with very little symptoms. Its synonyms are LEOPARD syndrome More Details, multiple lentigens syndrome, cardiocutaneous syndrome and lentiginosis profusa syndrome. It is caused by a single gene that has variable expression in phenotype resulting in multiple dysmorphism. David A Voron et al tried to enlist all possible anomalies in different group
1) Cutaneous 2) Cardiac 3) Genitourinary 4) Endocrinal 5) Neurologic 6) Ocular 7) Cephalofacial dysmorphism 8) Stature and Skeleton. Gorlin et al gave the mnemonic term leopard syndrome and the letters denotes L - lentigens multiple, E - electrocardiographic changes, 0 - Ocular hypertelorism, P - Pulmonary stenosis, A - Abnormal genitalia, R - Retarded growth, D - Deafness. It is therefore difficult to define a disease with multiple variable number of dysmorphisms which has no pathognomonic signs or chemical marker.
| Case Report|| |
A 14 year boy, product of mature, full term, uncomplicated pregnancy presented with multiple lentigens and short stature. Birth weight and height were average. Mile stones were delayed, crawling at 2, standing at 3 and walking at 4 years. His height was 110 cm and weight 18.5 kg, below 5th percentile. Intelligence was normal. Past history revealed that he had 3-4 bouts of epistaxis.
On physical examination patient was short and slender. Abnormal findings were confined to skin, skeleton and heart.
Skin was covered with innumerable lentigenes of 2-20 mm in size spread all over the body including palms, soles and scalp sparing the mucous membrane [Figure - 1]. These were present since birth but increased in number, colour and size with age. None was elevated or ulcerated. Skin was hyperelastic and metacarpophalangeal joints were hypermobile [Figure - 2]. His bony age on X-ray correlated with chronological age. Spina bifida occulta was present in sacral region. Hypertelorism was also present. Cardiac examination revealed prominent precordium, pectus excavatum, apex on 6th intercostal space on midclavicular line, heaving in character, harsh systolic murmur in left sternal border. No murmur was detected in pulmonary or aortic region. Nystagmus, hearing loss or anosmia was absent.
Investigation revealed normal haematocrit value and liver function normal. Skin biopsy showed lentigenosis. X-ray chest revealed enlarged heart. ECG was consistent with biventricular hypertrophy. Echocardiography showed left ventricular posterior wall thickened 1.8 cm (normal 0.7 - 1.1 cm), interventricular septal thickness 1.8 cm (0.7 - 1.1 cm) and concentric left ventricular enlargement. There was no evidence of A.S.D. or V.S.D. Final impression was hypertrophic cardiomyopathy of non obstructive type.
| Comment|| |
This patient has biopsy proved lentigenes, height and weight below 5th percentile, hyperelastic skin, hypermobile metacarpophalangeal joint, spina bifida occulta and vitiliginous patches on the left half of the face. All these point to the diagnosis of lentiginosis.
Hypertrophic, cardio myopathy is evident from clinical, radiological, E.C.G. and echocardiography. Apical impulse in 6th space, heaving in character, hursh left parasternal systolic murmur, cardiomegaly in X-ray, echocardiographic finding of thickened septum and posterior ventricular wall corroborates the diagnosis.
Veron et al reviewed 81 cases and found cardiomyopathy in only 4 cases. Moynahan reported two cases which were necropsied proved to be hypertrophic cardiomyopathy. Somervilles reported 3 cases who also had cardiomyopathy and 2 were confirmed by angiocardiography and subsequent necropsy.
All three had pulmonary murmur which according to him was due to interventricular septal thickening which obstructed pulmonary outflow and gave the murmur which was not due to pulmonary stenosis. Indeed if pressure studies without angiography and echocardiography are undertaken, the diagnosis of subpulmonary and subaortic stenosis may be made wrongly. So echocardiography is the only investigation which determine whether valvular stenosis 'or hypertrophic cardiomyopathy with thickened interventricular septum is present. So in our opinion echocardiography is a must when clinically cardiac abnormality is suspected in lentigenosis as hypertrophic cardiomyopathy only can cause death. A special feature in our case was recurrent bouts of epistaxis which is not reported earlier.
| References|| |
|1.||Voron D A, Hatfield H H and Kalkhoff R K : Multiple lentigenes syndrome, Amer J Med, 1976; 60 : 447-456. |
|2.||Gorlin R J, Anderson R D and Blaw M : Multiple lentigene syndrome. Amer J Dis Child,1969. |
|3.||Moynahan E J : Progressive cardiomyopathic lentigenosis : First report of autopsy finds in a recently recognised inheritable disorder J Can Med Assoc, 1970 : 103 : 239. |
|4.||Somerville J, Bonham - Carer R E : The heart in lentigenosis : Brit Heart J, 1973; 35 : 874. |
[Figure - 1], [Figure - 2]
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