CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.

BACKGROUND: Heterozygous mutations in caspase recruitment domain family member 14 gene (CARD14) have been shown to be associated with psoriasis and familial pityriasis rubra pilaris (PRP). Many subjects with CARD14 mutations display features of both disorders, which can result in diagnostic uncertainty. In addition, these eruptions are often recalcitrant to conventional psoriasis therapies such as methotrexate, oral retinoids, and tumor necrosis factor-α inhibitors. OBJECTIVE: We sought to describe the clinical characteristics, family history, and response to therapy in subjects with papulosquamous eruptions due to mutations in CARD14. METHODS: Subjects were referred for genetic testing as part of a registry of subjects with inherited disorders of keratinization. DNA was isolated from blood or saliva, and multiplex targeted sequencing or whole exome sequencing was performed. Clinical histories of subjects with CARD14 mutations were reviewed. RESULTS: We identified 15 kindreds with CARD14-associated papulosquamous eruption (CAPE). Characteristic features of CAPE include early age of onset; prominent involvement of the cheeks, chin, and ears; family history of psoriasis or PRP; minimal response to conventional topical and systemic psoriasis therapies; and improvement with ustekinumab. LIMITATIONS: Relatively small sample size. CONCLUSIONS: Many subjects with CARD14 mutations display characteristics of both psoriasis and PRP. We propose the term CARD14-associated papulosquamous eruption to describe this spectrum of disease. Subjects with clinical features suggestive of CAPE should undergo CARD14 sequencing and may benefit from treatment with ustekinumab.

Predictors of Tumor Response to Cetuximab and Panitumumab in 116 Patients and a Review of Approaches to Managing Skin Toxicity.

INTRODUCTION AND OBJECTIVES: Cetuximab and panitumumab are monoclonal antibodies that target the epidermal growth factor receptor (EGFR) in the treatment of metastatic colorectal cancer. Most patients develop a papulopustular rash, which may predict tumor response. We studied whether the other adverse cutaneous effects associated with these monoclonal antibodies are also clinical predictors of response. We also reviewed publications describing approaches to treating the papulopustular rash since no evidence-based guidelines have yet been published. MATERIAL AND METHODS: We performed a retrospective study of 116 patients with metastatic colorectal cancer receiving anti-EGRF therapy with cetuximab or panitumumab at Hospital Universitario Donostia. RESULTS: In total, 81.9% of the patients developed a papulopustular rash. Patients who received the most cycles of treatment with the EGFR inhibitor were at the highest risk of developing the rash, and these patients also had the most severe rash reactions (P=.03). All of the patients who exhibited a complete tumor response had the rash, and the incidence of rash was lower in patients with poor tumor response (P=.03). We also observed an association between tumor response and xerosis (53.4% of the patients who developed xerosis also exhibited tumor response, P=.002). The papulopustular rash was managed according to an algorithm developed by our department. CONCLUSIONS: Severe papulopustular rash and xerosis may be clinical predictors of good response to anti-EGFR therapy. Patients who develop a papulopustular rash should be treated promptly because suboptimal treatment of this and other adverse effects can lead to delays in taking the prescribed anti-EGFR dose or to interruption of therapy.

Two cases of lichen striatus with prolonged active phase.

Lichen striatus is a localized, eczematous disorder distributed along the lines of Blaschko, primarily affecting children. In the literature, lesions have been described as having an active phase of inflamed lesions for 6 to 12 months followed by flattening and persistent pigmentary alteration. We describe two girls who had prolonged active-phase lesions for 2.5 and 3.5 years, respectively. Practitioners should be aware that lesions of lichen striatus may have a prolonged active phase.

Photodynamic therapy for facial dermatosis papulosa nigra: Efficacy and safety in a preliminary study.

Dermatosis papulosa nigra (DPN) is a type of benign epidermal hyperplasia that affects the appearance of patients and poses a threat to their physical and mental health. Photodynamic therapy (PDT) has been shown to have the advantages of non-invasiveness, efficacy, and low recurrence in the treatment of skin disorders. However, no studies have been reported on the use of PDT for the treatment of DPN. Therefore, we used PDT for the first time to treat DPN and monitor its efficacy. Forty-five patients with DPN diagnosed at the outpatient clinic of Changzhou First People's Hospital were treated with 10 % 5-aminolevulinic acid (ALA) once a week for four consecutive weeks and followed for 3 months. After four treatment sessions, the cure rate among the 45 patients was 71.1 %, and the overall efficacy rate was 93.3 %. The most common adverse reactions were mild erythema, edema, and temporary pigmentation. PDT is expected to become a new and effective treatment for DPN.

High incidence of internal malignancy in papuloerythroderma of Ofuji: a case series from Japan.

BACKGROUND: Although it has been reported that papuloerythroderma of Ofuji (PEO) often occurs in association with internal malignancy, the true incidence of malignancy in patients with PEO is unknown. OBJECTIVE AND METHODS: To ascertain the incidence of and relationship with internal malignancy in patients with PEO, 11 patients with PEO diagnosed at our dermatology clinic between September 2005 and June 2011 were retrospectively reviewed. RESULTS: Internal malignancy was found in 6 (54.5%) of the 11 PEO patients, and 5 cases were idiopathic PEO. In the 6 cases with associated malignancy, PEO preceded the malignancies, and the diagnosis of malignancy was made just before or shortly after the diagnosis of PEO, but the malignant process and PEO did not always run a parallel course. CONCLUSIONS: Although the limitations of this study included a relatively small sample size, the present findings show a high incidence of internal malignancy in patients with PEO.

Photodynamic therapy: new treatment for refractory lymphocytic infiltration of the skin.

Lymphocytic infiltration of the skin (LIS) is a relatively uncommon skin condition, first described by Jessner and Kanof in 1953. LIS presents mainly on the face, in particular on the cheeks and earlobe, but also on the neck, upper trunk or proximal limbs of middle-aged adults. LIS is often resistant to treatment. Photodynamic therapy (PDT) refers to the process of applying a topical prodrug, such as 5-aminolaevulinic acid (ALA) or methyl 5-aminolaevulinic acid (MAL), followed by irradiation with visible or ultraviolet light. The prodrug is converted by target tissue to photoactive porphyrins, which lead to local tissue destruction when activated by light. We describe a 48-year-old woman with refractory LIS, who was treated with MAL-PDT.

Clear-cell papulosis: a rare entity that may be misconstrued pathologically as normal skin.

We describe a case of multiple, discrete, hypopigmented macules in the suprapubic and axillary region in a healthy 3-year-old girl. The lesions first appeared at approximately 9 months of age and increased in number over time. Initial histopathologic examination by an outside dermatopathologist at 1 year of age was reported as showing nonspecific histologic changes. A repeat biopsy at 3 years of age showed large intraepidermal clear cells that expressed CKAE1/CAM5.2, CK7, and BRST2. These findings are diagnostic for clear-cell papulosis, a rare condition that primarily affects children. Without great clinical and pathologic suspicion, this is a diagnosis that can often be overlooked because the histologic findings are virtually identical to those of normal skin.

[An atypical skin rash in a setting of antiphospholipid syndrome]. / Éruption cutanée atypique au cours d'un syndrome des antiphospholipides.

BACKGROUND: Antiphospholipid syndrome (APS) is characterised by arterial or venous thrombosis combined with the presence of specific antibodies known as antiphospholipids. It is commonly associated with cutaneous signs. Herein we report a case of atypical cutaneous eruption occurring during the course of APS and we discuss the possible mechanism. PATIENTS AND METHODS: A 45-year-old woman consulted twice within six months for an erythematosus papular eruption around the neckline. She was being followed-up for antiphospholipid syndrome treated with fluindione (Préviscan®), and her International Normalized Ratio (INR) was consistent with the prescribed anticoagulation target. Blood tests confirmed the presence of anticardiolipin and antiphospholipid antibodies, but no laboratory evidence of lupus was seen. Histopathological examination of a skin biopsy demonstrated the presence within the vascular lumen of a weakly eosinophilic anhistic substance positive for PAS stain. The patient was given acetone salicylic acid (Kardégic®) combined with fluindione, and four years later, she had presented no relapses. DISCUSSION: Despite a clinically evocative appearance, the diagnosis of lupus tumidus was ruled out in our patient by histopathological features, and associated systemic lupus erythematosus was repeatedly refuted on the basis of clinical and laboratory data. We suggest that the specific histological images of intraluminal deposits within the dermal vessels seen in this patient, although not typical of thrombosis, are associated with APS. The clinical remission seen from the start of antiplatelet treatment could be due to the action of these drugs against the obstruction of small-calibre dermal vessels.

[Localized inflammatory alopecia of the scalp: an unusual presentation of tularemia]. / Plaque inflammatoire alopéciante du cuir chevelu : mode de révélation atypique d'une tularémie.

BACKGROUND: Tularaemia is a rare arthropod-borne zoonotic infection with 20 to 70 new cases being seen each year in France. Cutaneous ulceration and regional lymphadenopathy are the classical dermatological signs. Diagnosis of atypical forms is more complex. OBSERVATION: A 48-year-old woman was admitted for an erythematous papular alopecic lesion of the scalp accompanied by fever, chills and cervical lymphadenopathy. Initial antibiotic therapy for 20 days with amoxicillin clavulanate was ineffective. The patient's history included an episode of hunting in the forest three days before the onset of signs. Finally, serology led to the diagnosis of tularaemia. Combined levofloxacin and doxycycline resulted in regression of the scalp lesion and lymph node disorder. DISCUSSION: The existence of alopecia and location on the scalp did not initially suggest a diagnosis of tularaemia to us. The clinical presentation was highly suggestive of impetigo with satellite lymphadenopathies. However, resistance to antibiotics and the absence of inflammation militated against this diagnosis, and other possible diagnoses such as a tick-borne lymphadenopathy (TIBOLA), borreliosis and tularaemia were discussed. The most common clinical presentation of tularaemia is ulceroglandular tularaemia, which predominates in 80% of cases. The inoculation chancre at the point of initial infection is most often located in the upper limbs. CONCLUSION: An inflammatory plaque on the scalp with alopecia may reveal tularaemia, a potentially fatal disease resulting from inoculation.

Persistent pruritic papules and plaques: a characteristic histopathologic presentation seen in a subset of patients with adult-onset and juvenile Still's disease.

BACKGROUND: 'Persistent pruritic papules and plaques' of Still's disease represents a recently described eruption seen in a subset of patients. Most cases reported in the literature to date have been associated with adult-onset Still's disease. METHODS: We present the clinical and histopathologic examinations of three female patients ranging in age from 15 to 54 years. RESULTS: Our three patients each presented with clinical findings consistent with Still's disease. The youngest patient suffered from the juvenile form of Still's disease (systemic-onset juvenile rheumatoid arthritis). Each patient had a persistent, pruritic eruption with histopathologic findings of dyskeratosis confined to the upper layers of the epidermis as well as a sparse superficial dermal infiltrate containing scattered neutrophils. CONCLUSIONS: These cases confirm the characteristic clinical and histopathologic findings of 'persistent papules and plaques of Still's disease' and show the potential for this eruption in both the adult and juvenile age groups.

Papuloerythroderma 2009: two new cases and systematic review of the worldwide literature 25 years after its identification by Ofuji et al.

BACKGROUND: Even after the description of papuloerythroderma of Ofuji (PEO) in 1984, little is known about this clinical entity. OBJECTIVE: To report on 2 new cases of PEO and review of the worldwide literature on this topic. METHODS: Article citations were searched on several biomedical search engines (PubMed, EMBASE, SCOPUS, Google Scholar). Papers were retrieved either online or in print. RESULTS: A grand total of 170 PEO cases were identified. Most patients were older than 55 years and of Asian or white descent, with an overall male/female ratio of 4.0. Itch and the deck-chair sign were observed in all patients. Peripheral eosinophilia, lymphocytopenia and increased serum IgE were common findings. Histopathology mostly showed aspecific inflammation, while 17 showed histological features of cutaneous T-cell lymphoma (CTCL). Atopy, malignancies, infections and drugs were rarely linked to PEO. CONCLUSION: PEO represents a rather monomorphous entity both clinically and, with the remarkable exception of CTCL, also histologically. Nonetheless, no causative factor could be identified in the vast majority of cases. An etiological classification and diagnostic criteria are proposed in the attempt to contribute framing this puzzling clinical entity.

[Polymorphic eruption of pregnancy and acquired hemophilia A]. / Éruption polymorphe de la grossesse associée à une hémophilie acquise A.

BACKGROUND: Acquired haemophilia A (AHA) is a rare and serious disease, and instances of association with skin diseases have been described. We report a case of postpartum AHA associated with atypical polymorphic eruption of pregnancy (PEP). PATIENTS AND METHODS: Following delivery of her second child, a 27-year-old woman developed a generalised pruritic erythematous papular and vesicular rash in plaques. The diagnosis of pemphigoid gestationis was ruled out on the basis of negative immunopathology results and a diagnosis of PEP was made. Lengthening of activated cephalin time was observed, without correction by addition of control plasma, and prothrombin time was normal. AHA was confirmed by the very low levels of factor VIII and the presence of antifactor VIII antibody. The patient was given intravenous activated recombinant factor VII for epistaxis and gingival bleeding, followed by an infusion of polyvalent immunoglobulins and systemic corticosteroids. Both diseases regressed within a few weeks. DISCUSSION: This case is original in terms of the atypical presentation of AHA associated with severe PEP. AHA was associated with the presence of antifactor VIII Ab. Although the disease generally occurs alone, it has already been reported during pregnancy and the postpartum period, and in association with various forms of dermatosis, including bullous pemphigoid, although to our knowledge, never in association with PEP or pemphigoid gestationis. However, neither the underlying mechanisms of this association of PEP and AHA, which was probably not a chance occurrence, nor the risks of relapse of these conditions during subsequent pregnancies have been elucidated.

Effectiveness of a combination of salicylic acid-based products for the treatment of mild comedonal-papular acne: a multicenter prospective observational study.

BACKGROUND: The most common therapeutic approach to acne is a combined treatment of retinoid and benzoyl peroxide, with oral antibiotics recommended for moderate-to-severe cases. These kinds of therapies often lead to adverse reactions, leading to the request for new therapeutic options. Recently, the combined use of three salicylic acid-based products for the topical treatment of acne has been related to a significant improvement in acne lesions. METHODS: A multicenter prospective observational study was carried out on patients with a diagnosis of mild comedonal-papular facial acne to provide new evidence on the clinical effectiveness, tolerability and acceptability of three salicylic acid-based products for the topical treatment of acne in the daily clinical practice. Clinical effectiveness on lesions improvement, the evaluation of personal discomfort related to acne and the assessment of overall clinical outcome were the primary endpoints. Treatment acceptability and tolerability were also evaluated. RESULTS: The treatment with the three salicylic acid-based products has been related to a significant improvement on acne lesions over 8 weeks of treatment, along with a reduction of personal discomfort related to acne and an improvement on lesions appearance. The products have also shown good acceptability and tolerability. CONCLUSIONS: The results of this observational study support the effective and well-tolerated use of a combined treatment with three salicylic acid-based products for the topical treatment of acne.