Sporadic Case of Ichthyosis Bullosa of Siemens in an Infant: A Rare Case.

Sir,

Ichthyosis bullosa of Siemens (IBS), type of bullous ichthyosis, is distinguished from more severe and deeper bullous congenital ichthyosiform erythroderma by the absence of erythroderma, localization of hyperkeratotic areas to flexures, and localized areas of skin peeling known as “mauserung” phenomenon which actually represents small areas of normal skin in-between areas of hyperkeratosis.[1] IBS is a rare condition with the occurrence of 1 in 500,000 live births.[2] Rare sporadic occurrence of this case merits its inclusion in rare case reports.

An 8-month-old girl, born out of non-consanguineous marriage, presented in our skin outdoor with the chief complaints of recurrent episodes of skin peeling and thickening since the age of 2 months. Patient was a normal vaginal delivered full-term baby, with normal skin at birth. The lesions started with multiple areas of blistering and mild erythema followed by eventual peeling of skin over body, more accentuated on flexural areas, sparing head, neck, palms, and soles. The lesions over flexural areas progressed to be hyperpigmented and hyperkeratotic over a period of 6 months. The lesions used to become more pronounced if ambient temperature was more. There was no family history of similar lesions.

On local cutaneous examination, the lesions were dark-gray and hyperkeratotic over trunk and extremities. Hyperkeratosis was more marked in elbows and folds of thigh. On further questioning, parents gave definite history of superficial blisters [Figure 1a-c]. Nails, hairs, teeth, and oral mucosa were normal. “Mauserung” phenomenon was observed.

Figure 1

(a–c) Dark-gray and hyperkeratotic lesions, with grayish scaling over trunk and extremities. Hyperkeratosis was more marked in elbows and folds of thighs

Lesional skin biopsy from back showed basket weave hyperkeratosis with vacuolar degeneration in the spinous and granular layer. There was mild acanthosis, intracorneal intraepidermal bulla formation, and some pigmentary incontinence in basal layer. The upper dermis showed mild perivascular lymphocytic infiltration [Figure 2a-c]. The histopathological findings were compatible with epidermolytic hyperkeratosis.

Figure 2

(a–c): On histopathology, there are hyperkeratosis (orange arrow), intraepidermal bulla (red square) (a); perivascular lymphocytic infiltrate in dermis (black arrows) (b); and spongiosis in granular layer (blue arrow), spongiosis in spinosum layer (purple arrow), pigment incontinence in basal layer (green arrow) (c). Findings were compatible with epidermolytic hyperkeratosis involving superficial layers of epidermis

Other routine blood and urine investigations were within normal limits. Immunofluorescence or mutational analysis was not done due to lack of infrastructure for the same.

The patient was prescribed emollient containing urea 10% and glycolic acid 15% mixed with petrolatum for applying several times a day and counseling of parents was done with partial resolution of lesions after 1 month of treatment.

IBS is also known as superficial epidermolytic ichthyosis and is clinically characterized by mild neonatal disease or delayed onset of episodes of superficial blistering resembling epidermolysis bullosa simplex persisting through childhood or may extend to adult life. Further in the course of the disease, there are localized areas of variable gray, rippled keratosis on trunk and limbs with flexural accentuation. In most of the cases, it is transmitted in an autosomal dominant trait, but occasionally sporadic mutation has been reported.[13]

The differential diagnosis of IBS is epidermolysis bullosa simplex, congenital bullous ichthyosiform erythroderma, and skin peeling syndrome.

At present, there is no cure for IBS, but future gene therapy may offer a solution. Frequent and liberal application of emollients and use of mild keratolytics, such as urea and lactic acid that cause mild exfoliation of skin, form mainstay of treatment. Some authors have found topical 0.05% tazarotene gel useful while others have refuted its use in IBS.[45]

Consent

Consent was taken for publication from his mother (8-month-old child).

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.