Epidermolysis bullosa pruriginosa: A rare presentation with asymptomatic lesions

Abstract

Epidermolysis bullosa pruriginosa (EBP) is a subtype of dominant dystrophic epidermolysis bullosa (DDEB) and is clinically characterized by pruritic lichenified plaques or prurigo-like lesions with violaceous linear scarring. Pruritus has always been described as one of the most striking features in EBP. Mutations in COL7A gene, especially in the glycine residue, have been shown to cause this form of DDEB. In this report, we describe a north Indian familial clustering of three cases of EBP, spread across two generations, presenting with hypertrophic lichenoid cutaneous lesions, which were completely asymptomatic. Clinical and histopathological analysis favored the diagnosis of EBP in all three cases. They are being reported for their unusual asymptomatic presentation.

Epidermolysis Bullosa Pruriginosa

“…Cases of DEB are rare and those of the pruriginosa subtype are even more so; fewer than 100 cases of EB pruriginosa have been documented to date. 4 The etiopathogenesis of EB pruriginosa is not fully understood. With regard to the etiology of pruritus, either raised IgE levels or abnormal response to pruritus in patients with EB pruriginosa have been proposed as possible explanations; however, these hypotheses are under debate and far from conclusive.…”

“…3 Clinically, EB pruriginosa is typically characterized by hypertrophic, lichenified, and pruriginous plaques or nodules that may occur at birth, but more commonly develop later in teenage years, as seen in the probands. 4 These lesions are secondary to the intense pruritus, which presents either before or with the cutaneous manifestations. 3 The lesions are most commonly localized to the shins and forearms with relative sparing of the face and flexures; lesions occurring on other parts of the legs, elbows, hands, shoulders, and lower back have been previously described.…”

“…3 The lesions are most commonly localized to the shins and forearms with relative sparing of the face and flexures; lesions occurring on other parts of the legs, elbows, hands, shoulders, and lower back have been previously described. 4 Other findings include violaceous linear scarring, milia, excoriations, nail dystrophy, and less commonly, blisters on trauma and albopapuloid lesions on the trunk. [2][3][4] The characteristic lesions of EB pruriginosa that are typically localized and develop with delayed onset may pose diagnostic difficulties for the clinician as these often clinically resemble lichen planus or prurigo nodularis.…”

“…2 Diagnosis of EB pruriginosa can be made based on the characteristic lesions, history of trauma-induced blistering, family history of similar cutaneous manifestations inherited in a dominant or recessive fashion, and a consistent histologic picture obtained from light microscopy or electron microscopy. 3,4,6 Mutation analysis may also be used to confirm the diagnosis. 2 The difficulties in making the diagnosis lie in the variable age of onset, delayed clinical presentation by up to 70 years, rarity of intact bullae, histologic ambiguities, and close resemblance to other conditions.…”

“…Cases of DEB are rare and those of the pruriginosa subtype are even more so; fewer than 100 cases of EB pruriginosa have been documented to date. 4…”