Case History Quiz: A case from Darfur presented by Dr Massimo Serventi
Here are two photographs of a baby boy, aged 11 months, who was born in Nyala, Darfur. The mother is married to her direct/first cousin. This is her 6th child – two of them were born with the same condition – a boy died at age 3 months and a girl at age 27 months. Her brother had two children with the same condition – both died.
Q1. What is wrong with this baby? What signs of disease can you identify?
General condition is poor; the child is crying and looks as if he is suffering and in pain; a taught/tight membrane resembling parchment covers his skin. There is ectropion, eversion of lips, flattening of the nose and pus secretion from the eyes and base of the nose.
Q2. What is the diagnosis?
Harlequin ichthyosis. This is characterised by the taught/tight membrane covering the entire body surface. The involvement of eyes (ectropion), mouth (fish-like deformity – eclabium) and distorted flat ears are typical features.
Differential diagnosis: Collodion baby - which has a similar presentation of a taught membrane, but is less severe and lacks the additional facial features. The membrane in this condition typically breaks up and peels off in the 1st two weeks of life. Conditions associated with this include lamellar ichtyosis, ichthyosiform erythroderma and Netherton’s syndrome.
Q3. What further questions should the doctor ask?
This is a clinical diagnosis. Questions that can help in making the diagnosis are:
- Is the couple consanguineous (blood relatives)?
- Does the couple have another child with ichthyosis?
- Does the family have a history of severe skin disorders?
Q4. What causes this condition?
It is an autosomal recessive disease, transmitted by both parents. In this case they are direct/first cousins.
Q5. What treatment should the doctor give?
- Systemic antibiotics. The use of prophylactic antibiotics is debatable, but probably indicated if the baby cannot be nursed in a sterile environment.
- IV fluid. This is very important as affected infants are often unable to feed.
- Systemic retinoids. Acitretin 1mg/kg/day and isotretinoin 0.5mg/kg/day both enhance/improve survival and reduce morbidity.
Water is lost through the skin. So bathe the baby twice a day and use sodium chloride compresses followed by bland emollients to soften hard skin. Do not use salicylic acid preparations. Use eye lubricant ointments rather than eye drops.
Q6. Do you think the child is likely to get better?
No, this child seems very seriously affected. Possible causes of death are sepsis, dehydration and malnutrition.
Have you seen children with this condition? If so, what treatment/advice did you give? What was the outcome?
Thanks to Chris Bower for helping to provide answers for the quiz.