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.
