Prurigo Pigmentosa: A Clinicopathological Report of Three Middle Eastern Patients.

Prurigo pigmentosa is a unique cutaneous inflammatory disorder characterized by a sudden onset of pruritic and erythematous macules, urticarial papules, and plaques that may coalesce to form a reticulated pattern. Lesions typically heal within weeks leaving a reticulated and mottled postinflammatory hyperpigmentation. The majority of reported cases originate from Japan with much fewer cases described worldwide without predominant ethnicity. The histopathological features of prurigo pigmentosa can be nonspecific; however, distinct features exist for each stage of the disease. The aetiology of prurigo pigmentosa is not fully understood. However, ketoacidosis has been implicated in the pathogenesis and indeed prurigo pigmentosa has been associated with ketoacidotic states such as diabetes mellitus, fasting, dieting, and anorexia nervosa. In this report, we present 3 Jordanian patients with prurigo pigmentosa and describe their clinicopathological features. One patient developed prurigo pigmentosa while fasting during the month of Ramadan and another was undertaking a strict diet. No associations were identified in the third patient. In view of the largely nonspecific clinical and histological features, a high index of suspicion is required as many cases of prurigo pigmentosa are probably undiagnosed.

A systematic review of the literature on the treatment of pityriasis rubra pilaris type 1 with TNF-antagonists.

BACKGROUND: Adult pityriasis rubra pilaris (PRP) type 1 is a rare chronic papulosquamous disorder with clinical and histological parallels with psoriasis. Treatment is challenging and recent case reports suggest a potential role for tumour necrosis factor (TNF) antagonists. OBJECTIVES: Our objective was to systematically review the literature for evidence of efficacy of TNF antagonists in the treatment of adult PRP. METHODS: We performed a systematic search of the Cochrane library, EMBASE, Pubmed and MEDLINE databases. We defined diagnosis of PRP, classified clinical response and whether this was clearly attributed to TNF-antagonists. We also reviewed disease, treatment duration and follow up. RESULTS: Sixteen articles were selected for detailed review. From these, 12 articles (13 cases) met our predefined criteria and were included in the systematic review. The authors identified two more cases from their personal archive. A total of 15 evaluable cases were included for analysis. Twelve showed complete response (CR) (80%) to TNF-antagonists with a mean time to maximal response of 5 months. In 10 of the CR cases (83%) this was clearly attributable to TNF antagonist therapy. CONCLUSION: These data indicate that TNF-antagonists may be of value in treating adult type 1 PRP refractory to other systemic agents but selective reporting bias, together with the lack of standard diagnostic criteria and established spontaneous resolution in PRP, prevent any firm recommendations on their place in management.

The relevance of patch testing in peristomal dermatitis.

BACKGROUND: Skin disorders are a common problem for ostomates, resulting in more than a third of visits to a stoma nurse. Irritant reactions, particularly irritant contact dermatitis, are the most frequently seen, accounting for > 50% of problems in some studies. OBJECTIVES: To report our experience in patch testing for peristomal dermatitis. METHODS: All patients were identified from our database of the skin-stoma clinic. Patch testing to various chemicals was performed and results analysed. RESULTS: From a total of 850 stoma patients in the combined clinic, 149 patients were patch tested. Only seven patients (4·7%) had positive reactions of current, proven relevance, none of which was related to constituents of the stoma appliances themselves. Most of the relevant allergens were preservatives and fragrances. CONCLUSIONS: The symptoms and clinical appearances of allergic contact dermatitis and irritant contact dermatitis are similar in the occluded peristomal environment and are therefore difficult to distinguish on clinical grounds alone. Allergy is a relatively infrequent cause of peristomal dermatitis despite the continual exposure of skin to the components of cleansers, medicaments, other accessories and the stoma bag systems themselves.

Erythema gyratum repens associated with pityriasis rubra pilaris.

Erythema gyratum repens (EGR) is a rare cutaneous eruption characterized by serpiginous morphology and a migrating scaly border. It is one of the most specific cutaneous paraneoplastic phenomena, and is associated with malignancy in most cases. We report a 46-year-old Afro-Caribbean man with the unequivocal clinical and histological features of pityriasis rubra pilaris (PRP). However, despite improvement on oral acitretin, the morphology of the eruption evolved into the striking serpiginous rash of EGR. The histology findings, although nonspecific, were in keeping with the diagnosis of EGR. No evidence of malignancy was found. Only four cases of PRP evolving into EGR have been reported in the literature, and none was associated with malignancy. All previously reported cases of EGR have been described in white patients, making our case the first reported exception, to our knowledge. The possible role of retinoids in altering the rash of PRP to that of EGR is discussed.

Bullous pemphigoid in a patient with suspected non-Herlitz junctional epidermolysis bullosa.

A 56-year-old man with lifelong trauma-induced blisters, nail dystrophy and dental enamel hypoplasia presented with a new spontaneous blistering eruption. Clinicopathologically, he had evidence of both an inherited and an acquired blistering disorder: non-Herlitz junctional epidermolysis bullosa (nHJEB) and bullous pemphigoid (BP). HIstological examination of a skin biopsy found reduced (but not absent) collagen XVII in nonlesional skin, in vivo bound anticollagen XVII antibodies in perilesional skin, and prominent eosinophils in perilesional and lesional skin, with subepidermal blistering. Circulating anticollagen XVII antibodies were also present. Treatment with oral corticosteroids and mycophenolate mofetil led to clinical control of the BP but had no effect on the mechanobullous blistering. Our patient is unusual in that his skin retains some labelling for collagen XVII rather than having the complete absence of immunoreactivity expected in patients with generalized nHJEB. Moreover, we were unable to identify any pathogenic mutations in the COL17A1 gene encoding collagen XVII (or in other EB-associated basement membrane genes). It is plausible that the long-term consequences of basement membrane disruption in our patient, perhaps associated with atypical inherited COL17A1 pathology, might result in a conformationally altered and more immunogenic protein with the subsequent development of anticollagen XVII antibodies and BP as a secondary pathology.

Autosomal dominant junctional epidermolysis bullosa.

BACKGROUND: Epidermolysis bullosa (EB) encompasses a heterogeneous group of inherited skin disorders associated with trauma-induced blistering. The junctional forms of EB (JEB), Herlitz JEB, non-Herlitz JEB and JEB associated with pyloric atresia have all been attributed to autosomal recessive inheritance. We describe a 7-year-old girl with defective dental enamel, trauma-induced blistering and subsequent scarring. Her mother, a carrier of the mutation p.G627V in the collagen XVII gene (COL17A1) had evidence of hypoplastic dental enamel without skin blistering. Her grandmother had non-Herlitz JEB as a result of a compound heterozygous mutation in COL17A1 (p.G627V and c.3514ins25). OBJECTIVES: To explore the molecular, ultrastructural and immunofluorescence findings of the first case of dominant JEB. METHODS: Mutational analysis of COL17A1 was performed on the proband's genomic DNA. In addition, transmission electron microscopy and immunofluorescence microscopy were performed on a nonlesional skin biopsy from the proband and an unrelated healthy control. RESULTS: Direct sequencing revealed a heterozygous glycine substitution mutation, p.G627V, in COL17A1. No discernible morphological abnormalities were found on transmission electron microscopy; however, immunofluorescence microscopy revealed findings of an altered distribution pattern for type XVII collagen epitopes close to the dermal-epidermal junction. CONCLUSION: This report describes the first case of dominant JEB. Although some heterozygous mutations in COL17A1 are known to cause dental abnormalities none were associated with skin fragility. The dominant-negative interference between the proband's mutated type XVII collagen and the wild-type allele appears to render the skin prone to trauma-induced blister formation. Alternatively, other undisclosed modifying genetic or epigenetic factors might explain why the patient gets blistering whereas her mother, who has the same COL17A1 mutation, has no skin fragility.

Epidermolysis bullosa pruriginosa in association with lichen planopilaris.

Epidermolysis bullosa pruriginosa (EBP) is a clinical variant of dominant or occasionally recessive, dystrophic epidermolysis bullosa (EB). Clinically, intense pruritus on a background of inherited skin fragility often leads to skin signs that resemble acquired inflammatory disorders such as hypertrophic lichen planus (LP) or nodular prurigo. Moreover, symptoms and signs may not appear until adult life, further compounding difficulties in distinguishing between inherited or acquired skin pathology. We describe a 61-year-old white British woman who developed EBP during her 40s, with lichenified plaques on the legs that resembled hypertrophic LP. Molecular screening of the COL7A1 gene showed a novel heterozygous glycine substitution in type VII collagen, designated p.G2290A, in keeping with dominant dystrophic EB. During her 50s, however, the patient developed new abnormalities with patchy scarring alopecia and perifollicular inflammation. Histological examination of a skin biopsy found features of lichen planopilaris. To our knowledge, this is the first example of a patient with EBP in whom the genetic disease does not merely resemble LP but is actually associated with coexisting acquired lichenoid skin pathology. Intriguingly, treatment with topical tacrolimus 0.03% led to marked improvement in the inflammation on the legs but had little effect on the scalp.