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."

Intractable prurigo nodularis

presented by Henry Foong, Ipoh, Malaysia
Abstract:  55 yo man with over a decade of pruritic nodules.

The patient is a 55 yr old man who presented with 2 months history of severely pruritic nodules on the upper/lower extremities and trunk. His problem started about 13 yrs ago when he had pruritic nodules on the scalp, hands and feet. He had seen a few dermatologists in town and was not getting better.  In 2003, I did a skin biopsy on one of the nodules and features were compatible with prurigo nodularis. There was no granuloma or vasculitis noted. He defaulted in 2009 seeking other traditional treatments and topical ointments.O/E:  The nodules and plaques were mainly over the dorsum of both hands and feet, knees, back of trunk and buttocks. The nodules were erythematous, excoriated and discrete. One important feature noted in this patient is that the lesions affected the back of trunk without any sparing of lesions over the central upper back where the hands would have difficulty in reaching it. There were no scalp lesions.

Clinical Photos:

Lab: Blood counts and biochemistry was unremarkable. IgE level is 230 KU/l (normal <88 IU) He runs a petrol station and did not seem to have much underlying stressors except the lesions over the hands and thighs were excruciatingly itchy.  He had a past history of IHD, hypertension, hypercholesterolemia with coronary artery bypass surgery done in 2006.

Therapy: I have treated him with multiple intralesional triamcinolone injection, topical coal tar ointment and oral MTX 17.5 mg weekly. I omitted dermovate ointment as I think he probably has overused topical steroids.

I am thinking of other options : PUVA, oral cyclosporin or biologics such as adalimumab.

Of the three, I probably choose cyclosporin and monitor his renal function closely.

I am not sure if I can get thalidomide but I think the drug is difficult to source in Malaysia.