In article <[log in to unmask]>, Ahmad Risk
<[log in to unmask]> writes
>Urgent information requested please:
>
>The patient is a 15 yr old girl who has been diagnosed as a case of
>Congenital Ichthyosiform Erytheroderma (CIE) non-bullous type.
Non-bullous ichtyosiform erythroderma / Lamellar Ichtyosis
Rare.
Autosomal recessive.
Clinical features:
severity varies from simple generalized erythema to thick, scaly
hyperkeratosis.
Scaling more prominent in flexures.
Lifelong.
Hyperkeratosis of palms and soles.
Ectropion common.
Severe: harlequin foetus or collodion baby
Cortical cataracts common.
>- Is there a laboratory way for reaching a sure diagnosis?
Biopsy: thickening of epidermis. Granular layer may be thickened, gross
hyperkeratosis and perivascular infiltration.
>- Is there a treatment for the disease?
Keratolytics such as 5% salicylic acid in propylene glycol lessens
scaling.
Hydroxy acids may help, as oral aromatic retinoids.
>- What are the possibility of other systemic or organ involvement
>either now or later in life?
cataracts/joint mobility affected
>- What is the prognosis and life expectancy?
In severe cases infants stillborn
Improves in childhood, but persists through life.
Normal life expectancy.
>- Any where I could get detailed information and support ( like a
>society or support groups)?
Dunno.
--
Katie
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