ONLY CAFÉ AU LAIT MACULE VARIANT OF

NEUROFIBROMATOSIS WITHOUT NEUROFIBROMA: A

RARE CASE REPORT
DR M.ARUL SELVAN DR S.NIRMALA DR V.SAMPATH DR.B. VIJIYALAKSHMI

ABSTRACT:
INTRODUCTION:
Neurofibromatosis ,one of the commonest phakomatosis,is characterised by
various clinical manifestation. It is highly heterogenous and at seven types have been
described,with type 1 being the commonest.It is inherited as an autosomal dominant trait
with complete penetrance by the age of 5 years.It comprises a distinct genetic disorder
characterised by benign growths of peripheral nerve sheaths,neurofibroma and café au
lait macules,associated with various other cutaneous and systemic manifestations.Here
we report a young boy with features of only café au lait macule without neurofibroma
type(type 6) an uncommon subtype of neurofibromatosis.

CASE REPORT:
A 15 yrs old male boy came with complaints of multiple black to brown coloured
non raised skin lesions since birth initially noted around umbilicus and gradually increased
in size to attained present size.Then he noticed same kind of lesions over thighs,legs and
both hands. Later around 5 years of age he noticed dark coloured skin lesions over
face,both armpits,groin,palms and soles. No history of visual disturbances/no raised skin
lesions. No history of similar complaints in family members. No history of headache
,seizure,learning disability,speech impairment. No history of spinal deformities, mucosal
lesions. General and systemic examination were normal. Dermatological examination
revealed multiple well defined hyperpigmented macules of varying size ranging from 4*3
cm to 1*1 cm over lower abdomen,back,both legs,both arms,forearms seen. Multiple
hyperpigmented well to ill defined macules of varying seen over face,axilla, groins, palms
and soles seen.Muitiple hyperpigment scaly annular lesions of varying size seen over
lower abdomen, both thighs and groins seen.No mucosal lesions seen.No nodules found
anywhwere in the body.Ophthalmic examination- lisch nodule seen in slit lamp
examination. Based on the clinical findings a diagnosis of only CALM without
neurofibroma with dermatodhyte infection was made without systemic
involvement.Patient was counselled and adviced regular follow up.
CONCULSION:
Type 6 neurofibroma(Only CALM without neurofibroma ) is an uncommon subtype
of neurofibromatosis. This case is been presented for its rarity.