Dystrophic epidermolysis bullosa pruriginosa recessive

Epidermolysis bullosa dystrophica pruriginosa , which occurs as an autosomal recessive as well as an autosomal dominant variant, is a rare clinical subtype of dystrophic epidermolysis bullosa characterized by generalized or localized skin fragility, blistering and scarring, lesions associated with severe pruritus. If prolonged, prurigo-like nodular changes may be added. Nail dystrophies and and whitish plaques are regularly observed (McGrath et al. 1994; Cambiaghi et al. 1997).

The prevalence is unknown. To date, <150 familial or sporadic cases have been recorded.

These clinical features may appear in early childhood, but in some cases the onset is delayed until the second or third decade of life

Shins, backs of feet, elbows, wrists, back.

While skin fragility and vesicular lesions usually manifest in infancy, healing with atrophic scarring and milia formation, the onset of severe pruritus is often delayed until adolescence or even adulthood. At the onset of pruritus, the clinical picture generally worsens with the development of papules, nodules, lichenoid and hypertrophic lesions in a linear distribution, preferably on the extensor sides of the limbs. Nail dystrophies are frequently found.

Drera et al (2006) reported 7 unrelated Italian patients with EB pruriginosa. In three patients, there was a family history suggestive of autosomal dominant inheritance. In six patients, symptoms appeared at birth or in early childhood. Most had relatively mild skin involvement with blistering lesions occurring mainly on traumatized skin areas. Four patients reported gradual resolution of the disease in childhood or adolescence. Other disease features included nail dystrophy, skin atrophy, and milia formation. All patients reported worsening of symptoms after the onset of pruritus. The pruritus was refractory to therapy.

Lee et al (2007) reported a Chinese Singaporean family with autosomal dominant EB pruriginosa. The proband was a 53-year-old woman with a vesicular rash on her back, neck, both shins, and elbows. She had suffered from intermittent blistering since the age of 25. The blisters were provoked by scratching and were pruritic; the mucous membranes were not affected. Physical examination revealed linear erosions and hypertrophic scarring at the affected areas with some milia formation. Skin biopsy revealed blistering below the lamina densa and decreased numbers of anchoring fibrils in the nonblistered skin. At least 5 of her siblings were similarly affected.

Transmission electron microscopy shows blistering below the lamina densa and decreased number of anchoring fibrils in the adjacent non-blistered skin.

Immunofluorescence mapping shows dermal cleavage and decreased immunoreactivity for collagen type VII. The diagnosis is confirmed by genetic testing.

Chronic prurigo of the nodularis type

Lichen simplex chronicus Vidal

Lichen planus verrucosus

Dermatitis artefacta.

Clinical management of DEB pruruginosa is often difficult, although general measures relieve itching. Nevertheless, there are some reports of helpful interventions that include topical treatments (e.g., tacrolimus), systemic agents (e.g., ciclosporin or thalidomide (Rani S et al. 2019), and cryotherapy. Recently, dupilumab has been shown to be effective (Zhou AG et al 2021).

The disease is refractory to therapy, but overall has a mild to moderate course and a normal life expectancy.

Prenatal diagnostics are not recommended.

For epidermolysis bullosa dystrophica pruriginosa, autosomal dominant, autosomal recessive inheritance patterns have been described as well as sporadic occurrence.

The disease typically occurs sporadically, but autosomal dominant and recessive inheritance have also been reported. Affected individuals should be offered genetic counseling to inform them of the risk of transmitting the pathogenic variant to their offspring.