Sunday, May 26, 2013

Congenital Ichthyosis in an Egyptian Child

Presented by Amira Abdel Azim,  Egypt.

Abstract:  A 3 year old child with Lamellar ichthyosis (LI).

HPI:  A 3 year old girl presented to me with her father because of a problem with her skin since birth, the father gave history consistent with collodion baby and severe difficulty during the first year of the child’s life. There is a positive history of consanguinity.

O/E: There was severe fissuring, cracking and scaling of the entire body. There was mild ectropion and some frontal balding as a result of the scaling. Hearing and mentality were normal.

Clinical Images:  (Since ectropion are important findings in LI, we have elected to not block out this child's eyes -- while we also recognize there are privacy issues.  After one to two weeks her eyes will be blocked out)




Lab: No abnormality detected.

Therapy: I prescribed for her 20% urea in 60% propylene glycol and her parents are quite happy with the results till now. I hope she does not develop any irritation from the propylene glycol. I advised the parents to apply it under occlusion on the hands at least till they start to look better.

Questions and Comments:
Please keep in mind that this child lives in a poor rural village where access to medicine is limited and monitoring is not easy.
LI is a rare severe autosomal recessive congenital disorder of keratinization, it is characterized by variable erythema of the whole body surface and by different scaling patterns.  While systemic retinoids are the gold standard for therapy, using them in very young children may not be appropriate.  We will solicit comments from pediatric dermatologists and others who have experience treating similar patients as well as persons with LI.

References:
1. eMedicine.com  Lamellar Ichthyosis

2.  Pediatr Dermatol. 2011 Jul-Aug;28(4):451-5. doi: 10.1111/j.1525-1470.2011.01375.x. Successful treatment with topical N-acetylcysteine in urea in five children with congenital lamellar ichthyosis.
Bassotti A, Moreno S, Criado E.
Department of Dermatology, Hospital Español, Mendoza, Argentina. aebassotti@yahoo.com.ar
Abstract: We reported the efficacy of topical cutaneous N-acetylcysteine in children with type I lamellar ichthyosis. The drug was applied on predetermined body surface areas two times a day for 6 weeks, followed by a daily maintenance application. During the first 2 weeks of treatment, a significant improvement occurred. After 4 months of maintenance application, a marked overall improvement occurred in all the treated areas. Only two patients showed mild adverse effects such as light burning, pruritus, and irritation. Even though a larger group of patients should be necessary to confirm the data, topical 10% N-acetylcysteine emulsion prepared in urea 5% seems to be a valuable and safe therapeutic option for lamellar ichthyosis in children, with benefit not only for skin lesions but also for ectropion avoiding a surgical procedure.

3.  Acta Derm Venereol. 2008;88(1):4-14. doi: 10.2340/00015555-0415.
Congenital ichthyosis: an overview of current and emerging therapies. Free Full Text
Vahlquist A, Gånemo A, Virtanen M.
Department of Medical Sciences, Dermatology, University Hospital, University of Uppsala, Uppsala, Sweden. anders.vahlquist@medsci.uu.se
Abstract: Congenital ichthyosis is a collective name for a group of monogenetic disorders of cornification, sometimes associated with systemic symptoms. There may be an abnormal quality or quantity of scale produced, abnormal thickness of stratum corneum or abnormal keratinocyte kinetics, often associated with skin inflammation. Pruritus, skin fragility, ectropion and anhidrosis are sometimes associated with the rare types of ichthyosis. Three important mechanisms are involved in the action of topical agents used in the treatment of ichthyosis: hydration, lubrication and keratolysis. The latter effect can also be achieved with systemic retinoids. For ichthyosis with an increased tendency towards skin infections, antimicrobials are another group of widely used agents. Considering that patients with ichthyosis are potential mega-users of topical therapy, with an estimated lifetime consumption of approximately one tonne cream per capita, surprisingly few controlled trials of the various treatments have been performed. Moreover, nearly all therapeutic principles were established long before the recent increase in knowledge about the aetiology and pathophysiology of ichthyosis. This calls for new ideas and intensified efforts to develop future ichthyosis therapies.

Comment of Jennifer Hand, M.D., pediatric dermatologist at the Mayo Clinic:
" I agree this does look like a case of Autosomal Recessive Ichthyosis.  In the U.S. the best source of information for ichthyosis skin care is the Foundation for Ichthyosis and Related Skin Types (FIRST).   There is a video about neonatal skin care and skin care tips at the web site (in English).
 If resources aren’t available to send a blood sample for a genetic test to confirm the mutations, Dr. Keith Choate at Yale does research testing for ichthyosis.  He will inform if a mutations is present, but then the patient will need to send the sample to GeneDx to confirm the mutation at a reduced fee of less than $400 and get genetic counseling on their own."

 





3 comments:

  1. Jennifer Hand, M.D., pediatric dermatologist at the Mayo Clinic:
    " I agree this does look like a case of Autosomal Recessive Ichthyosis. In the U.S. the best source of information for ichthyosis skin care is the Foundation for Ichthyosis and Related Skin Types (FIRST). There is a video about neonatal skin care and skin care tips at the web site (in English).
    If resources aren’t available to send a blood sample for a genetic test to confirm the mutations, Dr. Keith Choate at Yale does research testing for ichthyosis. He will inform if a mutations is present, but then the patient will need to send the sample to GeneDx to confirm the mutation at a reduced fee of less than $400 and get genetic counseling on their own."

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  2. This is from Harper Price, M.D., a pediatric ermatologist in Phoenix, AZ: Given the limited resources for this family here are some cheap solutions for emollients:
    Sunflower oil-has shown to be helpful in ichthyosis conditions; Vaseline jelly is also cheap. The support group FIRST has a program to give free Aquaphor for kids with ichthyosis just needs a note from the doctor and instructions are on website on how to proceed.
    I usually reserve oral retinoids for when the child is older (pre-teen, teen) as this will require long-term monitoring for her as well as pregnancy avoidance when the time comes.
    Things like salicylic and lactic acid can be used but you must be careful about absorption as she has a defective barrier. I tend to prefer to have the children soak for 10-20 minutes in a plain water tub so that the skin can become hydrated and then put emollients on after and sometimes a second time of day.
    I worry about the continued exposure to the propylene glycol and don't use this myself unless it is in small amounts in commercial products--I don't compound with it and would prefer the urea compounded in petrolatum.
    Patient will need to be careful with overheating. These kids do well carrying around plastic spray bottles filled with water to cool off when hot (some have attached fans) and must avoid overheating and drink plenty of water--insensible losses are greater without an intact barrier. Also eyes must be monitored yearly or more often if indicated; rewetting drops are helpful. Eyes can dry out when sleeping if they don't close all the way.
    These kido can also get itchy and have eczema like areas--treating itchy areas with intermittent low potency steroids is not unreasonable if needed.
    Lastly I hope someone counseled the family about the genetic (AR) nature of the disorder.

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  3. Hello, I’d like to give some advice since I have Lamellar Ichthyosis and have been treating it for 32 years now. I am not sure how much advice I would be able to provide given our age difference and location but here is my day to day routine.In the morning before I start my day I use a smooth paper hand sander on my legs, arms and try to reach my upper back with it as well. This feels great since the moisture wares off in the night. Once I am done with this I have my 1st shower making sure I use a loofa. I also wash my hair with a medicated shampoo for dry scalps and deep conditioner. After my shower I use a sea salt rub on my arms and hands for extra moisture since my arms are exposed all day from wearing t-shirts. Once fully dry I apply Aquaphor to my entire body. This helps prevent drying and cracking throughout the day. During the day I keep aquaphor with me at all times. I constantly have to apply it to my hands or lips, even the corner of my eyes at times for dryness. A mid-day shower is sometimes needed repeating this process. Water is our best friend when you have LI. At night I have the same routine except I do not use the paper sander; I only use that for exfoliating in the mornings. You don't want to overdo it. There are certain parts of the body you do have to pay more attention to which is your scalp and feet. My feet are a constant treatment. I have to use a PedEgg on them once a day, I find this works wonders. When I am done using the PedEgg, I always use a medicated foot rub and then apply gel socks. It feels like a cooling sensation and yes sometimes it stings but this helps to not have your feet crack and bleed. I have to file my nails every other day and use strong clippers since our skin grows over the nail to where a normal nail cutter wouldn't work. As for the scalp, this has always been a difficult area for LI patients with a full head of hair. I have to use a steel pronged comb for my hair when releasing the scales. This happens once a week or so. You don't want to tear or yank your scales because then your hair will come with it. You also do not want to put to much oil in your hair or it will become severely itchy and irritated. I use medicated shampoo; comb it when I need too and once a week I use a deep conditioner. Scales on the head are more severe than on the body, if you try to remove them, they will hurt and bleed. You also do not want to use any type of glycolic on LI people. It burns and stings; it is not a comfortable treatment. The skin disorder is not going away, until you are older and able to find your own ways of coping with it, it is best to try to be comfortable instead of trying to make it disappear. Water and petroleum type topical ointments are the key for this condition. Also when older your doctor may provide you medication for this condition. Last advice; always be careful in the sun, no matter how hot or cold. This is always something we need to be careful with. Whether it is hot or cold does not matter, if the temperature has changed from our normal day to day routine, it will affect us. So for example someone who does not have LI goes for a walk in the nice 70 degree weather seems fine, a little difference but nothing major. When someone who has LI goes out in the same temperature for a walk, by the end of the walk, they are about to faint. It's all about your body temperature, not the temperature outside. It also does not matter what you wear or the colors you wear. Your body will overheat because of the change in the temperature. It also goes in the winter time as well. Many people forget that this season can affect a person with LI too. Winters are sometimes worse because of the cold, it irritates the skin severely causing it to crack and bleed, where as the sun only makes it where you overheat. Cold weather is also something to embrace when having LI. Although rare, LI is only a skin disorder. With patience and a good routine you will get through this.

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