TELEDERMATOLOGY READER REPORT1

History

Chief complaint

Presenting for diagnosis and treatment of thickened skin.

History of present illness

An 11-year-old Honduran boy presents to a rural indigent care pediatric clinic. The patient states his skin has become thicker over time. Mother states the boy was born with red skin and some blisters. Prior treatment: None. His primary symptom: Thickened darker skin that is odiferous. Prior biopsy: None.

IMAGE QUALITY ASSESSMENT

Fully satisfactory.

TELEDERMATOLOGY IMAGING READER REPORT

One image was provided noted as Problem A. The image shows dry, thickened skin with corrugated-cardboard-like scales (Figure 1).

FIGURE 1. Dry, thickened skin with corrugated-cardboard-like scales on 11-year-old boy.

INTERPRETATION OF IMAGES

Lesion A

Findings

The morphology and distribution of the lesion along with the history are highly suggestive of a diagnosis of an ichthyotic disorder, namely, epidermolytic hyperkeratosis (EHK).

RECOMMENDATIONS

Skin Care and Treatment Recommendations

Routine and regular extended baths with colloidal oatmeal (ground dehulled oat) or sea salt soaks, gentle hydrating cleansers, to gently care for his fragile skin. Twice-daily topical barrier repair emollients with ceramides are recommended, especially directly after the bath/soak to retain moisture. Odor because of bacterial colonization of accumulated scales may benefit from mild antibacterial soaps or diluted chlorhexidine-containing cleansers.

RECOMMENDED FOLLOW-UP

Patient should be referred to pediatric dermatology for evaluation for potential initiation of systemic retinoid therapy.

CLINICAL PEARL

EHK is a skin fragility disease that is also known as bullous congenital ichthyosiform erythroderma and epidermolytic ichthyosis (Oji et al., 2010). The disease is typically because of autosomal dominant or sporadic mutations in the genes for epidermal suprabasilar keratins (Ammirati & Mallory, 1998). Overall, the prevalence of the disease is 1 in 200,000-300,000 people (DiGiovanna & Bale, 1994).

In the initial neonatal presentation, generalized erythroderma may be seen alongside blistering of the skin, both of which place the newborn at risk of dehydration, electrolyte imbalance, and severe infections. After the first few months of life, the blistering subsides, and hyperkeratotic plaques with "corrugated-cardboard-like" scales begin to develop (Chamcheu et al., 2011). Involvement is typically over the joints with a linear array of hyperkeratosis in the flexures and a cobblestone patter over the extensor surfaces (DiGiovanna & Bale, 1994).

The presentation of the disease can be categorized into two types based on distribution and gene mutation. Mutations in the KRT1 gene are associated with palmar-plantar (or palm/sole) hyperkeratosis, and mutations of the KRT10 gene are usually associated with the non-palmar-plantar variants (DiGiovanna & Bale, 1994). The non-palmar-plantar type has hyperkeratosis on areas of the body other than the palms and soles.

Currently, the target of therapy in EHK is to manage the symptoms and protect the fragile skin. Systemic retinoids may be warranted in more severe cases. Notably, gene therapy research may provide an avenue to a cure in the future (Hengge, 2006).

REFERENCES