A 21 year-old girl came with her relatives to the clinic last week. She travelled about an hour to get to the clinic even bypassing other clinics on the way.
She complains of a nagging skin condition for the last seven years when she first noticed it. The crops of lesions would grow in different parts of her body: face,neck,trunk,arms and legs. She has been to many doctors both government and private and has been prescribed with several medications: antibiotics,antiviral,antifungal and anti allergy plus all kinds of creams but the condition never goes away instead more lumps have cropped up.
The papules (elevated lesions) are not tender or itchy or red or ulcerated, in fact nothing which causes physical discomfort. Her problem is cosmetic as the lesions have become unsightly and she is very sensitive when people look at her. In effect, she looks depressed as all manners of treatment, modern and traditional have been tried by her family but nothing comes out of them.
I took one look at the lesions in the neck and immediately knew what they were. To confirm it I had to ask her to undress to check other parts of her body. what I observed on her bare back, convinced me that she is suffering from a genetic disease called "neurofibromatosis". No amount of medications would cure this condition.
I referred her to a dermatologist to confirm my diagnosis and there it is. I have explained to the close relative the nature of the genetic condition which is passed down through an autosomal dominant gene; meaning to say that her offsprings will have a 100% risk of contracting it as well. The condition could be a mutation in her body itself or she could have got it passed down from one of her parents though, I did not get that history from her as she denied that either of her parents suffer from the condition.
Counselling is mandatory in genetic diseases so as to give the best advice as far as future generation is concerned. In this sad case, at least they do not have to keep looking for a cure for her as they have been doing for the last seven years.
The non-diagnosis of this condition for so long earlier is likely due to the history not been taken adequately, examination is only done cursorily and on only the exposed part as too much emphasis is given to preconceived patient's sensitivity (patient is a hijab-wearing Muslim) and also the preoccupation with using drugs as answers to all ailments.
A seven-year of mystery is finally solved but the emotional pain will need a long time to heal, if at all it could be healed.
She complains of a nagging skin condition for the last seven years when she first noticed it. The crops of lesions would grow in different parts of her body: face,neck,trunk,arms and legs. She has been to many doctors both government and private and has been prescribed with several medications: antibiotics,antiviral,antifungal and anti allergy plus all kinds of creams but the condition never goes away instead more lumps have cropped up.
The papules (elevated lesions) are not tender or itchy or red or ulcerated, in fact nothing which causes physical discomfort. Her problem is cosmetic as the lesions have become unsightly and she is very sensitive when people look at her. In effect, she looks depressed as all manners of treatment, modern and traditional have been tried by her family but nothing comes out of them.
I took one look at the lesions in the neck and immediately knew what they were. To confirm it I had to ask her to undress to check other parts of her body. what I observed on her bare back, convinced me that she is suffering from a genetic disease called "neurofibromatosis". No amount of medications would cure this condition.
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| Elevated small lumps in the skin (non-erythematous papular lesions) |
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| The sine qua non of the condition - cafe au lait (flat coffee-coloured) spots on the skin |
Counselling is mandatory in genetic diseases so as to give the best advice as far as future generation is concerned. In this sad case, at least they do not have to keep looking for a cure for her as they have been doing for the last seven years.
The non-diagnosis of this condition for so long earlier is likely due to the history not been taken adequately, examination is only done cursorily and on only the exposed part as too much emphasis is given to preconceived patient's sensitivity (patient is a hijab-wearing Muslim) and also the preoccupation with using drugs as answers to all ailments.
A seven-year of mystery is finally solved but the emotional pain will need a long time to heal, if at all it could be healed.
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