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Images in Clinical Practice

Indian Pediatrics 2001; 38: 676-677  

Neurofibromatosis-1 in a Family

An eight-year-old male child born to non-consanguineous parents presented with multiple light brown patches over the body since seven years and few soft pinkish nodules on the trunk and arms since six years. His six-year-old sister had similar brown patches and so did his father, who in addition had axillary freckling (Fig.1). Cutaneous examination revealed multiple brown, well defined macules over the bodies of all three which were café-au-lait macules (CALMS) and soft pink sessile tumors recognized as neurofibromas. General physical examination (including blood pressure) and systemic examinations were normal. The skeletal survey and neurological examinations were within normal limits. Eye examination revealed few yellowish dome-shaped lesions found superficially around the iris on slit-lamp examination in all three and these were identified as Lisch nodules or iris hamartomas (Fig. 2). A clinical diagnosis of Neuro-fibromatosis-1 (NF-1) or von Reckling-hausen’s Neurofibromatosis was kept.

Neurofibromatosis-1 (NF-1) is a distinct genetically acquired neuroectodermal abnor-mality, which is mostly autosomal dominant although sporadic cases may also occur. NF-2, on the other hand has vestibular schwannomas with central nervous system tumors. Cutaneous neurofibromas are derived from peripheral nerves and supporting structures, including neurilemmal cells. The diagnosis of NF-1 is based on presence of two or more of the following criteria: six or more café-au-lait macules (over 5 mm in greatest diameter in prepubertal and over 15 mm in greatest diameter in pubertal individuals); two or more neurofibromas or one plexiform neurofibroma; two or more Lisch nodules; optic glioma; skeletal dysplasia and a first degree relative with NF-1. The first feature to appear are usually CALMS, followed by neurofibromas. Appearance of Lisch nodules are age dependent; 5% in below 2 years, 42% in 3-4 year olds, 55% in 5-6 years olds, 80% in 9-14 year olds and 10% in adults.

NF-1 is associated with impairment of physical and mental development, endocrine disturbances, renovascular hypertension, neurological tumors, Wilm’s tumor, rhabdo-myosarcoma, several types of leukemia, retino-blastoma and malignant melanoma. Therefore, regular annual physical, neurological and ophthalmological screening is necessary while genetic counselling to parents and excision of disfiguring lesions can be offered.

Fig. 1. Presence of café-au-lait macules in all three members, neurofibromas seen over chest and abdomen of the boy and freckling in the father.

Fig. 2. Slit lamp examination showing yellowish lesions of Lisch nodules best seen in 4 O’ clock and 7 O’clock position.

Srikanta Basu,
Rashmi Sarkar,

Departments of Pediatrics and Dermatology,
Government Medical College and Hospital,
Sector 32, Chandigarh 160 047, India.


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