A female infant presented to the paediatric emergency department with a generalised papulopustular eruption. The rash started 5 days earlier, initially affecting the neck creases and spreading to affect all areas of the skin. There was a background history of recurrent oral and napkin candidiasis
Abstract Epidermolysis bullosa pruriginosa (EBP) is a highly distinctive phenotype of dystrophic EB (DEB). It is characterized by pruritic hypertrophic papules, nodules and plaques usually on the lower extremities. Clinical findings are caused by mutations in the COL7A1 gene on chromosome 3p21.3, which encodes type VII collagen. It is a rare condition that was first described in the literature in 1994 in a series of eight cases (McGrath JA, Schofield OM, Eady RA. Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 1994; 130: 617–25). The condition usually presents in the neonatal period, during adolescence or early adulthood. There are < 100 documented cases to date (Kim WB, Alavi A, Pope E, Walsh S. Epidermolysis bullosa pruriginosa: case series and review of the literature. Int J Low Extrem Wounds 2015; 14: 196–9). Here, we present two cases of late-onset EBP. Case 1 is a 72-year-old woman with a 20-year history of a recalcitrant, pruritic violaceous eruption on her lower legs. Findings on biopsy were nonspecific, showing hyperkeratosis, mild epidermal spongiosis with a subepidermal split devoid of inflammatory cells. There was vascular proliferation in the superficial dermis and surrounding perivascular inflammation with an inflammatory infiltrate comprising lymphocytes, histiocytes and plasma cells. Differential diagnosis included venous stasis or DEB. Genetic sequencing was performed, revealing heterozygosity for a COL7A1 c.6007Gly>Arg mutation, confirming a diagnosis of autosomal dominant EBP. Case 2 is a 60-year-old woman who presented with pruritic coalescing nodules and papules. These had appeared initially on the buttocks and occipital scalp and subsequently developed on her wrists, elbows and lower legs. Hyperkeratotic toenails and a pincer nail on her left thumb were noted. A biopsy taken from her right thigh showed hyperkeratosis with acanthosis, and subepidermal cleavage containing mixed inflammatory cells. Genetic sequencing confirmed the heterozygous mutation IVS107–2delA in the COL7A1 gene, consistent with a variant of dystrophic EB highly suggestive of EBP. Both patients’ symptoms responded to dapsone. To our knowledge these mutations have not been reported elsewhere in the context of EBP. We highlight the potential for late onset of this rare condition, novel genetic mutations, and the role of genetic testing in situations of clinical uncertainty.
We examined the sun-protection practices of 61 men attending a dermatology department in the west of Ireland. Most worked outdoors, either currently or in the past. Although most wore hats as a sun-protection measure, the majority wore baseball caps, with smaller numbers wearing other types of hats that do not offer protection to the head and neck. Use of SPF products was widespread, but often not used habitually.
A 60-year-old woman presented with a 7-year history of an erythematous cutaneous eruption involving the right submammary area. She described asymptomatic, small blisters that would exude clear fluid intermittently.
BI20 Tinea incognito mimicking a gyrate erythema in the setting of common variable immunodeficiency Jason Hynes, Mary Laing, Amy Ridge and Karen Ready Galway University Hospital, Galway, Ireland A 38-year-old woman presented with a 9-week history of a widespread erythematous rash and background of common variable immunodeficiency (CVID), ichthyosis and Crohn disease. Her rash began on her thighs and progressed to the lower legs. Previous treatments included topical and systemic corticosteroids, without benefit. On examination she had polycyclic, annular erythema on her legs, which was well demarcated, with scale. Skin biopsies were performed for haematoxylin and eosin staining and direct immunofluorescence (DIF). Serum immunoglobulins were normal. She was treated with topical antifungals and topical corticosteroids with emollients and a plan to review in 1 week. On re-review she had extension of her rash, which had migrated to her trunk, with complaints of skin pain. Her blood results showed a raised C-reactive protein with neutrophilia and eosinophilia only. Histology showed parakeratosis and spongiosis with an inflammatory perivascular infiltrate within the dermis. Spores and hyphae were seen, and the DIF was negative. The impression was of a possible dermatophyte infection. She was admitted and started on fluconazole. She slowly improved over 5 days, with resolution of her rash, and has remained well. CVID is a primary immunodeficiency with an estimated prevalence of 1 in 50 000. It is characterized by aberrant B-cell differentiation with low levels of immunoglobulins and an increased risk of infections. Bacterial skin infections are commonly reported; however, associated fungal infection reports are rare. CVID is also associated with cutaneous granulomas, psoriasis and eczema. In general, reports of skin manifestations in CVID are limited. However, one retrospective study assessing skin disorders in patients with CVID highlight them as a significant but under-reported feature that may represent a major underlying complication [Zarezadeh Mehrabadi A, Aghamohamadi N, Abolhassani H et al. Comprehensive assessment of skin disorders in patients with common variable immunodeficiency (CVID). J Clin Immunol 2022; doi: 10.1007/s10875-022-01211-x]. Tinea incognito is a term used to describe a dermatophyte infection that has been treated with topical corticosteroids, altering its clinical presentation. It leads to a large differential and may result in delayed or missed diagnosis (Arenas R, Moreno-Couti~ no G, Vera L, Welsh O. Tinea incognito. Clin Dermatol 2010; 28: 137–9). We present a diagnostic challenge of tinea incognito resembling a gyrate erythema in a patient with CVID, thereby alerting the dermatologist and immunologist to consider fungal infection in this immunodeficiency syndrome, an entity not previously reported.
BI20 Tinea incognito mimicking a gyrate erythema in the setting of common variable immunodeficiency Jason Hynes, Mary Laing, Amy Ridge and Karen Ready Galway University Hospital, Galway, Ireland A 38-year-old woman presented with a 9-week history of a widespread erythematous rash and background of common variable immunodeficiency (CVID), ichthyosis and Crohn disease. Her rash began on her thighs and progressed to the lower legs. Previous treatments included topical and systemic corticosteroids, without benefit. On examination she had polycyclic, annular erythema on her legs, which was well demarcated, with scale. Skin biopsies were performed for haematoxylin and eosin staining and direct immunofluorescence (DIF). Serum immunoglobulins were normal. She was treated with topical antifungals and topical corticosteroids with emollients and a plan to review in 1 week. On re-review she had extension of her rash, which had migrated to her trunk, with complaints of skin pain. Her blood results showed a raised C-reactive protein with neutrophilia and eosinophilia only. Histology showed parakeratosis and spongiosis with an inflammatory perivascular infiltrate within the dermis. Spores and hyphae were seen, and the DIF was negative. The impression was of a possible dermatophyte infection. She was admitted and started on fluconazole. She slowly improved over 5 days, with resolution of her rash, and has remained well. CVID is a primary immunodeficiency with an estimated prevalence of 1 in 50 000. It is characterized by aberrant B-cell differentiation with low levels of immunoglobulins and an increased risk of infections. Bacterial skin infections are commonly reported; however, associated fungal infection reports are rare. CVID is also associated with cutaneous granulomas, psoriasis and eczema. In general, reports of skin manifestations in CVID are limited. However, one retrospective study assessing skin disorders in patients with CVID highlight them as a significant but under-reported feature that may represent a major underlying complication [Zarezadeh Mehrabadi A, Aghamohamadi N, Abolhassani H et al. Comprehensive assessment of skin disorders in patients with common variable immunodeficiency (CVID). J Clin Immunol 2022; doi: 10.1007/s10875-022-01211-x]. Tinea incognito is a term used to describe a dermatophyte infection that has been treated with topical corticosteroids, altering its clinical presentation. It leads to a large differential and may result in delayed or missed diagnosis (Arenas R, Moreno-Couti~ no G, Vera L, Welsh O. Tinea incognito. Clin Dermatol 2010; 28: 137–9). We present a diagnostic challenge of tinea incognito resembling a gyrate erythema in a patient with CVID, thereby alerting the dermatologist and immunologist to consider fungal infection in this immunodeficiency syndrome, an entity not previously reported.
