Rapamycin for refractory discoid lupus erythematosus.

Generalized discoid lupus erythematosus can pose a therapeutic challenge for dermatologists. Current treatment emphasizes photoprotection, topical and systemic steroids, and steroid-sparing immunosuppressive agents if necessary. Rapamycin, also known as sirolimus, selectively inhibits mammalian target of rapamycin, a regulatory kinase responsible for multiple signal transduction pathways. Mammalian target of rapamycin inhibition reduces cell division, lymphocyte proliferation, cytokine release, and downstream pathways unique from other classes of immunomodulatory drugs. Herein, we present a case of generalized discoid lupus erythematosus resistant to topical steroids, prednisone, azathioprine, mycophenolate mofetil, hydroxychloroquine, and thalidomide. The addition of rapamycin led to a positive treatment response within 6 weeks, with good tolerance of the medication and no adverse effects. The current literature supporting the use of rapamycin in the treatment of autoimmune connective tissue diseases is also briefly reviewed. For patients with severe or generalized discoid lupus erythematosus refractory to conventional treatment, rapamycin may be a useful therapeutic consideration.

Cutaneous Mycobacterium massiliense infection from tattooing: a common yet under-reported and persistent epidemic hazard for dermatologists.

Tattoo popularity continues to rise, with 3 in 10 Americans bearing at least one. Among tattoo complications, non-tuberculous mycobacteria (NTM) has emerged as a global public health concern. NTM infections associated with tattooing of immunocompetent individuals have occurred as sporadic cases and community outbreaks. Water sources are considered the major pathogenic reservoirs. Tattoo-related inoculation has been linked to contamination of ink, either during the manufacturing process or during dilution of black ink using non-sterile water. NTM infections have also been documented in a number of cosmetic and surgical procedures, including cutaneous surgery, Mohs micrographic surgery, mesotherapy, liposuction and laser resurfacing. NTM inoculation through exposure to contaminated water or non-sterile instruments remains a challenge for dermatologists and risk to patients. We reported a case of cutaneous Mycobacterium massiliense infection following tattoo placement. This report underscores the importance of clinicians to consider NTM infections in the differential diagnosis of procedure-related reactions.

An atypical syphilis presentation.

We present a case of lichenoid secondary syphilis in the genital area in the absence of other cutaneous or systemic manifestations. The patient did not experience an eruption on the palmar or plantar surfaces, which is rare. This case also is unique because of the intense pruritus associated with the genital lesions, a remarkable dissimilarity from typical secondary syphilitic eruptions that tend to be asymptomatic.

A case of self-healing juvenile cutaneous mucinosis.

IMPORTANCE: Self-healing juvenile cutaneous mucinosis is a very rare, self-limiting disease characterized by the abrupt onset of asymptomatic papules and nodules located primarily on the face and periarticular regions of a juvenile patient. There have been less than 20 cases reported since it was first described in 1973. OBSERVATIONS: Most cases have been reported in children 15 years and younger. Herein we present a case affecting a 17-year-old. To our knowledge, this the oldest reported patient with this condition in the USA. CONCLUSIONS AND RELEVANCE: Despite the rarity of this disease, it is important to keep SHJCM on the differential in pediatric patients presenting with proliferating papules and nodules. Knowledge of this entity may prevent unnecessary diagnostic testing and aggressive treatment in the pediatric population with this self-limited disease.

Purpuric eruption in a transfused neonate receiving phototherapy.

We describe the clinical and biochemical findings in a neonate requiring multiple blood transfusions and phototherapy for alloimmune hemolytic anemia and unconjugated hyperbilirubinemia, respectively. In this newborn, a severe photosensitivity reaction developed and laboratory testing revealed elevated serum and urine porphyrins at the time of the eruption. The cause of the transient porphyrinemia was likely multifactorial. Possible mechanisms include poor hepatic metabolism and reticulocyte hemolysis. However, the exact pathogenesis remains unclear at this time.

Dyskeratosis congenita.

IMPORTANCE: Dyskeratosis congenita is a rare disorder that often leads to early death owing to a variety of complications and associated disorders. Early diagnosis and intervention is important in care for patients affected by this disease. OBSERVATIONS: We describe a patient with dyskeratosis congenita (DC) in a child. Our patient had a 3-year history of transaminitis that was felt to be the result of biopsy proven progressive fibrosis of the liver beginning at age 3. He was referred to the dermatology department because of a chronic, evolving eruption with the hope of establishing a unifying diagnosis. Further examination revealed dystrophic nails, numerous dental caries, and blepharitis. Chromosomal analysis on leukocytes showed significant telomere shortening consistent with DC. CONCLUSIONS AND RELEVANCE: Early recognition and long term care is important in patients with DC because of their propensity to develop malignancy, hematologic abnormalities, and infection. Better understanding of this disease may lead to insights into other disorders associated with abnormal telomere maintenance.

Spironolactone and topical retinoids in adult female cyclical acne.

PURPOSE: To access the efficacy of spironolactone and topical retinoids in the treatment of female cyclical acne. METHODS: A retrospective chart review on 41 female patients age 19-57 years old with cyclical acne was performed. Patients were examined over the course of 2 to 102 months while taking 50 to 200 mg of spironolactone and topical tretinoin 0.025% or adapalene 0.1% cream. All were diagnosed with acne rated mild to severe, prior to treatment, and were started on an initial dose of 50 mg po daily. If significant improvement was not seen within the first 3-6 months, the dose was either held or increased in 25 mg increments every 3 months. Patients on oral and topical antibiotics, as well as patients on photodynamic therapy were excluded from the study. The response to treatment was rated on a 0-4 scale with 0 being no response and 4 corresponding to clear skin. RESULTS: One patient (2.4%) had no response to treatment. This patient was only on 50 mg po daily for only 2 months. Only 5 (12.2%) patients had minimal response to treatment and 9 (22.0%), 12 (29.3%), and 14 (34.1%) had a good, excellent, or clear response respectively. The study showed 26 (63.4%) women on treatment with spironolactone and topical retinoids had an excellent or clear outcome, and 35 (85.4%) were considered to have a good, excellent, or clear response. CONCLUSION: The addition of spironolactone to topical retinoid treatment suggests a superior response to retinoids alone in clearance of female adult cyclical acne.

Blastomycosis-like pyoderma: response to systemic retinoid therapy.

Blastomycosis-like pyoderma is a proliferative tissue response with multifactorial etiologies that may mimic other inflammatory and neoplastic skin disorders. It often occurs on sun damaged skin of immunocompromised patients. We report a case of blastomycosis-like pyoderma in a patient with underlying metastatic medullary carcinoma of the thyroid receiving treatment with sorafenib (a multikinase inhibitor). Prior treatments were unsuccessful. Our treatment with oral acitretin resulted in significant improvement.

Pyoderma gangrenosum masquerading as necrotizing fasciitis.

Necrotizing fasciitis is a fulminant advancing soft tissue infection characterized by widespread fascial necrosis, which can result in significant morbidity and even death. This condition requires prompt diagnosis and aggressive management with extensive surgical debridement and appropriate antibiotic coverage. Pyoderma gangrenosum, in contrast, is a noninfectious inflammatory condition of the skin that typically does not require surgical management. Both conditions can present with extensive ulceration and tissue necrosis, and close clinical-pathologic correlation is required to make the appropriate diagnosis. We present a case in which the diagnosis of pyoderma gangrenosum was initially elusive and serves to illuminate the diagnostic pitfalls in dealing with these entities.

Nonbullous neutrophilic dermatosis: Sweet's syndrome, neonatal lupus erythematosus, or both?

We describe a 5-day-old infant who fulfilled the diagnostic criteria for Sweet's syndrome, and the concurrent histologic and autoantibody features supporting the diagnosis of neonatal lupus. To our knowledge, this is the youngest case of Sweet's syndrome reported in the literature. Importantly, our findings further support the hypothesis that lupus erythematosus should be considered in the differential diagnosis of a nonbullous neutrophilic dermatosis, as it may represent the initial manifestation of the disease.

Mycophenolate mofetil in dermatology.

UNLABELLED: Mycophenolate mofetil (MMF) is the prodrug of mycophenolic acid (MPA), a medication used to treat psoriasis in the 1970s until side effects and the concern of carcinogenesis led to its discontinuation. The prodrug, MMF, emerged decades later in the transplant field. Dermatologists have since used MMF off-label to treat various inflammatory skin conditions, with most research concentrating on its use in psoriasis, autoimmune blistering disorders, dermatitides, and connective tissue disorders. The appeal of MMF is predicated upon its lymphocyte specificity and consequent decreased toxicity profile. These attributes may make it a preferable treatment option. Its use in the field of dermatology is currently limited by a lack of randomized controlled trials, potential unknown side effects, and cost of treatment. In reviewing both current literature and our own clinic records, MMF appears to be a promising therapeutic option for the treatment of cutaneous inflammatory diseases. LEARNING OBJECTIVE: After completing this learning activity, participants should be able to summarize the history and pharmacology of mycophenolate mofetil as an immunosuppressant; recognize its potential role in the treatment of dermatologic conditions, including general dosing guidelines, use in pregnancy and pediatrics, and potential adverse effects; and identify future considerations and developing areas of research regarding the use of mycophenolate mofetil in dermatology.

Malar rash caused by metal allergy in a patient with systemic lupus erythematosus.

BACKGROUND: A 61-year-old woman with an 8-year history of systemic lupus erythematosus presented with a non-pruritic, erythematous, malar rash. Previously, she had tested positive for antinuclear antibody and autoantibodies to double-stranded DNA and Ro/SSA, and had an elevated erythrocyte sedimentation rate. She wore eyeglasses with metal frames and had recently gained weight, which caused the eyeglasses to have increased contact area with her face. INVESTIGATIONS: Physical examination, autoantibody testing, measurement of complement C3 and C4 levels, measurement of erythrocyte sedimentation rate, hypersensitivity patch testing, dimethylglyoxime test of the patient's eyeglass frames. DIAGNOSIS: Delayed-type hypersensitivity reaction to nickel and possibly to cobalt dichloride in the patient's eyeglass frames, which caused a malar rash that mimicked acute cutaneous lupus erythematosus. MANAGEMENT: The rash resolved completely with contact avoidance with the eyeglass frames.

Cutaneous mastocytosis in a patient with primary Sjögren's syndrome.

Mast cells have been linked to rheumatoid arthritis (RA) and are essential to the pathogenesis of RA-like disease in a mouse model. We describe a 34-year-old woman who developed Sjögren's syndrome concurrently with telangiectasia macularis eruptiva perstans (TMEP), a rare form of cutaneous mastocytosis. The patient had sicca symptoms with an abnormal minor salivary gland biopsy and decreased salivary flow, peripheral neuropathy, an 80 pound weight loss, and a macular erythematous rash that exhibited superficial perivascular mast cell infiltrates on biopsy of lesional skin. This case further underscores the link between mast cells and the development of autoimmunity.

Nephrogenic fibrosing dermopathy in pediatric patients.

Nephrogenic fibrosing dermopathy (NFD) is a rare and recently recognized sclerosing skin disorder of unknown etiology. Reported cases have occurred in patients with chronic renal failure, with or without renal replacement therapy. All previous cases have been reported in older adult patients. We describe two pediatric patients who recently developed this condition and review the existing literature for NFD. Our patients included an 8-year-old boy on peritoneal dialysis with no prior renal transplant and a 19-year-old boy on hemodialysis with a history of previous failed renal transplants. We speculate that the recent emergence of this condition and occurrence in patients with chronic renal failure suggest an association with some newer pharmacological agent that has recently come into wide use. Since both our patients also had previously experienced large vessel thrombosis, hypercoagulable states may also be implicated.