Indian Journal of Dermatology
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DRUG REVIEW
Year : 2006  |  Volume : 51  |  Issue : 3  |  Page : 221
Multiple lentigenes with deafness in a 5-year-old boy


The Institute of Child Health, Kolkata, India

Correspondence Address:
Rajoo Thapa
Department of Pediatrics, Dr. Biresh Guha Street, Kolkata
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.27994

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How to cite this article:
Thapa R. Multiple lentigenes with deafness in a 5-year-old boy. Indian J Dermatol 2006;51:221

How to cite this URL:
Thapa R. Multiple lentigenes with deafness in a 5-year-old boy. Indian J Dermatol [serial online] 2006 [cited 2019 Oct 22];51:221. Available from: http://www.e-ijd.org/text.asp?2006/51/3/221/27994


A 5-year-old boy born to non-consanguinous parents presented with complaints of multiple dark, non-itchy skin lesions for the last 4 years with progressive hearing deficit for the last 3 years and left sided focal seizures for 9 months. There was no history of sibling affliction in the family and the parents were normal. On further enquiry it was known that he had progressive deterioration in intelligence over the last 1 year with appearance of bizarre behavior (secondary enuresis, encopresis, rage attacks, staying asleep for long hours) since the commencement of seizures.

On examination, he had a triangular face, low-set ears with hypertelorism and anti-mongoloid slant to the eyes.

His weight and height were below the fifth percentile (growth retardation).

There was satisfactory attainment of motor milestones but severe delay in the development of socio-personal traits. He was unusually fidgety with inadequate articulation and hyperactivity. Pectus carinatum was evident on inspection of the chest. There was severe sensori-neural deafness in both ears [Figure - 1].

Examination of the skin revealed 2 to 5 mm multiple lentigines all over the body including the face, palms and soles. Numerous cafι-au-lait macules were appreciated in different parts of the body [Figure - 2]. Examination of the major systems was normal.


   Questions Top


1. What is the diagnosis?

2. What does the acronym of the disease entity stand for?

3. What are the minimum criteria for diagnosis?

4. What are the cutaneous abnormalities seen in this condition?

5. What other entities need to be differentiated from this condition?


   Answers: Top


1.  LEOPARD syndrome More Details

2. Lentigines (multiple)

Electrocardiographic conduction abnormalities

Ocular hypertelorism

Pulmonary stenosis

Abnormalities of genitalia

Retardation of growth

Deafness

3. Based on clinical analysis of a large series of patients collected from the literature, in 1976 Voron et al proposed minimum criteria for the diagnosis:

Multiple lentigines must be present and:

Features of at least 2 other systemic features must be present as:

Other cutaneous abnormalities

Cardiac structural or electrocardiographic abnormalities

Genitourinary abnormalities

Endocrine abnormalities

Neurologic defects

Cephalofacial dysmorphism

Shortness of stature

Skeletal abnormalities

If lentigines are absent , a diagnosis of LEOPARD syndrome may be established if the patient has features of at least 3 above-mentioned systemic affections and has an immediate relative with the defined diagnosis.

4. The various cutaneous abnormalities associated with this condition include:

a. Axillary freckling

b. Cafι au lait spots

c. Localized hypopigmentation

d. Onychodystrophy

e. Interdigital webs

f. Hyperelastic skin

5. The other conditions that need to be ruled out include:

1. Noonan syndrome

2. Neurofibromatosis

3. Mc'Cune-Albright syndrome

4. Freckles (ephelides)

5. Puetz-Jeghers syndrome

6. NAME/LAMB syndrome

7. Carney complex

8. Craniofacial lentiginosis


    Figures

  [Figure - 1], [Figure - 2]



 

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