Generalized Hailey-Hailey disease associated with c.2395C>T ATP2C1 gene mutation and fatal outcome.

Hailey-Hailey disease (HHD) is a rare, autosomal dominant genodermatosis caused by a mutation of the ATP2C1 gene and presenting as an erosive dermatosis, particularly in the intertriginous areas. Generalized HHD is a rare variant. We present a case of widespread, recalcitrant HHD in a middle-aged woman with a fatal outcome. No other underlying dermatosis was identified, with the possible exception of drug sensitivity to carbamazepine. Diagnosis of HHD was confirmed by histology and genetic studies which showed a c.2395C>T mutation in the ATP2C1 gene. Concurrent pemphigus was excluded. Cases of generalized HHD are extremely rare and present a challenge in diagnosis and management. Increased awareness of this severe clinical variant is needed to improve quality of care for patients with this form of HHD.

Discrepancies in Non-Mohs Micrographic Surgery for Non-melanoma Skin Cancer Between Lighter-Skinned and Darker-Skinned Patients.

BACKGROUND: Non-melanoma skin cancer (NMSC) is highly prevalent in the United States, with darker-skinned patients (DSP) exhibiting lower incidence but increased morbidity and mortality. The purpose of this study is to elucidate NMSC disparities between DSP (Fitzpatrick skin phototype IV or more) and lighter-skinned patients (LSP, Fitzpatrick skin phototype III or less), focusing on surgical features of non-Mohs micrographic surgery-treated NMSC. METHODS: This retrospective cohort study included LSP and DSP diagnosed with either basal cell carcinoma (BCC) or squamous cell carcinoma (SCC) in an academic dermatology setting. Variables collected included age, gender, type of NMSC, location, staging, time-to-diagnosis (TTD), pre-operative lesion size, and post-operative defect size. Categorical variables were reported as counts and percentages, while the association between categorical variables was assessed using a two-tailed Fisher's test. A paired t-test was used to determine the association between continuous variables. P-values <0.05 were considered statistically significant. RESULTS: A total of 27 patients with NMSC were identified, of which 9 (33.3%) were DSP. Patients of darker skin were predominantly female (n=7; 77.8%), while no gender predilection was found in LSP (n=9; 50.0% female; p=0.23). Time-to-diagnosis was significantly longer in DSP than in LSP (61.3 weeks vs 25.1 weeks, respectively; p = 0.02). Despite this, there was no statistical difference in terms of staging, pre-operative lesion size (11.89 mm in DSP vs 10.76 mm in LSP, p=0.75), and post-operative defect size (45.56 ± 29.21 mm in DSP vs 31.22 ± 19.60 mm in LSP; p=0.33). CONCLUSIONS: Darker-skinned patients had a longer TTD without staging differences. Our study confirms the need for reducing TTDs for NMSC in DSP. Action initiatives include continued educational efforts to increase awareness of NMSC risk in DSP and more rigorous routine skin cancer screening.

Grouped follicular secondary syphilis: Case report and review of literature.

Secondary syphilis typically presents with macular, maculopapular or papular lesions, sometimes with systemic symptoms; however, there are some less common cutaneous presentations which can result in several differential diagnoses. We report the case of a 25-year-old man with the recent onset of a symmetric eruption of grouped follicular papules, for which syphilis was not originally considered. Histopathology revealed non-caseating granulomas with a lichenoid infiltrate. Subsequent spirochete immunostaining was positive, and further physical examination revealed moth-eaten alopecia, confirming the diagnosis of secondary syphilis.

Unilateral Distribution of Lichen Planus Pigmentosus-Inversus Unresponsive to Clobetasol and Hydroquinone.

Lichen planus pigmentosus-inversus (LPP-inversus) is a rare, pigmented variant of lichen planus of unknown etiology. This skin condition typically affects the intertriginous and flexural regions of the body bilaterally. We report an unusual case presentation with unilateral distribution of LPP-inversus in a woman originally from Nepal. The lesions developed rapidly over a three-month period and were recalcitrant to therapy with topical clobetasol and hydroquinone.

Changing age distribution of melanoma patients: a 22-year, single-site perspective.

OBJECTIVES: To investigate possible changes in the demographics of patients with melanoma during a period of 22 years in one dermatopathology practice. METHODS: We performed a retrospective review of 1835 cases of in situ and invasive melanomas histologically diagnosed between 1989 and 2010 in a private dermatopathology laboratory in Norfolk, Virginia. The age and sex of patients with in situ and invasive melanomas were recorded and compared with similar data for patients from whom any histopathologic specimen was received during the same interval. These data were then compared with those in the national Surveillance, Epidemiology, and End Results (SEER) registry between 1989 and 2009. RESULTS: The number of melanomas diagnosed in the laboratory increased during the 22 study years, but the proportion of submitted specimens diagnosed as melanoma remained somewhat stable. Patient ages ranged from the teens to the ninth decade of life. The proportion of melanomas in the in situ stage gradually increased. Mean patient age rose from 52.4 years in 1989 to 60.7 years in 2010. Men and women aged 60 years and older made up an increasing proportion of melanoma cases. There also was a relative increase in the proportion of women in the 40- to 50-year-old age group and a slight increase among those aged 20 to 30 years, particularly for invasive lesions. In general, the trends were similar for in situ and invasive melanomas. Our data were consistent with the SEER data in showing a trend for decreasing proportion of melanomas in younger individuals, with a corresponding increase in the middle-age and older adult populations. Some differences between the two datasets emerged for men aged 70 to 80, women aged 60 to 70, and all patients aged 70 to 80. CONCLUSIONS: An increasing proportion of melanomas were diagnosed in older individuals. There also was a relative increase in women aged 40 to 50 years and a lesser increase in those aged 20 to 30 years. Our findings were consistent with the national trends observed in the SEER dataset.

A double-blind, randomized, placebo-controlled trial of adalimumab in the treatment of cutaneous sarcoidosis.

BACKGROUND: Many medications, including tumor necrosis factor antagonists, have been anecdotally reported to be effective in treating cutaneous sarcoidosis, but controlled study is lacking. OBJECTIVE: We sought to determine if adalimumab is a safe and effective treatment for cutaneous sarcoidosis. METHODS: Adalimumab or placebo was administered to 10 and 6 patients, respectively, in double-blind, randomized fashion for 12 weeks, followed by open-label treatment for an additional 12 weeks, followed by 8 weeks of no treatment. Assessments were made of cutaneous lesions, quality-of-life issues, laboratory findings, pulmonary function, and radiographic findings. RESULTS: At the end of the 12-week, double-blind phase, there was improvement in a number of cutaneous findings in the adalimumab-treated patients (group 1) relative to placebo recipients (group 2), most notably in target lesion area (P = .0203). At the end of the additional 12-week open-label phase, significant improvement relative to baseline was found for target lesion area (P = .0063), target lesion volume (P = .0225), and Dermatology Life Quality Index score (P = .0034). No significant changes were seen in pulmonary function tests, radiographic findings, or laboratory studies. After 8 weeks off treatment, there was some loss of this improvement. LIMITATIONS: Standardized, validated measures for cutaneous sarcoidosis are lacking. There may be observer bias in the open-label portion of this study. The small size of this study makes it difficult to generalize results. CONCLUSIONS: Adalimumab, at the dose and duration of treatment used in this study, is likely to be an effective and relatively safe suppressive treatment for cutaneous sarcoidosis.

Taxane-induced morphea in a patient with CREST syndrome.

The taxanes, docetaxel and paclitaxel, are microtubule stabilizing chemotherapeutic agents that have demonstrated antineoplastic effects in a variety of solid tumors. They have been linked to the development of localized cutaneous sclerosis in some patients. We present a case of docetaxel-induced cutaneous sclerosis of the lower extremities in a patient with pre-existing CREST syndrome. We propose that patients with a history of limited or diffuse systemic sclerosis should be given taxane chemotherapy with caution, as these patients may have an immunological predisposition for the development of drug-induced morphea.

Acquired acrodermatitis enteropathica secondary to alcoholism.

Acrodermatitis enteropathica is a zinc deficiency disorder characterized by well-demarcated, erythematous, eczematous plaques in a periorificial and acral distribution. Hereditary and acquired forms have been described. We report a case of acquired acrodermatitis enteropathica secondary to alcoholism. Treatment of the underlying disorder and zinc replacement therapy resulted in rapid resolution of the condition.

Randomized, double-blind, placebo-controlled study evaluating the lidocaine/tetracaine patch for induction of local anesthesia prior to minor dermatologic procedures in geriatric patients.

BACKGROUND: Topical anesthetics offer a noninvasive method of anesthesia. OBJECTIVE: To evaluate the efficacy and safety of the lidocaine/tetracaine patch, a 1:1 (wt:wt) eutectic mixture of lidocaine and tetracaine, for local anesthesia before minor dermatologic procedures in geriatric patients. METHODS: In a multicenter, randomized, double-blind, placebo-controlled study, 79 patients over the age of 65 years received a 30-minute application of either the lidocaine/tetracaine patch or placebo immediately before a shave biopsy or superficial excision. The primary measure of efficacy was patient assessment of procedural pain using the visual analog scale (VAS). Secondary efficacy end points included patient, investigator, and independent observer assessments. RESULTS: There was a statistically significant difference (p = .041) in patient ratings of pain by VAS score in the active group (9.5 mm) compared with the placebo group (22.5 mm). None of the secondary end points showed a statistically significant difference between groups. No adverse events were reported. CONCLUSION: The lidocaine/tetracaine patch is a safe and effective method for noninvasive induction of local anesthesia for minor dermatologic procedures in patients over the age of 65 years.

Ocular and cutaneous squamous cell carcinoma in an African American man with epidermodysplasia verruciformis resulting in blindness and death.

Epidermodysplasia verruciformis (EV) is a hereditary disease that has served as a model for viral-induced carcinogenesis. Patients with EV have an increased susceptibility to infection with human papillomavirus, which results in the development of benign lesions in childhood. The lesions may resemble tinea versicolor in appearance and distribution, and usually remain benign. However, later in life cutaneous squamous cell carcinoma may develop on sun-exposed areas, such as the forehead. Radiation therapy may not only result in the malignant conversion of EV lesions, but may also increase the risk of metastases. To our knowledge, this is the first report of a patient with EV in whom squamous cell carcinoma of the conjunctiva developed. His clinical course was complicated by ocular invasion causing blindness, metastasis, and eventually death.