Aimee C. Smidt

Congenital epidermolysis bullosa acquisita: Vertical transfer of maternal autoantibody from mother to infant

BACKGROUND Epidermolysis bullosa acquisita (EBA) is a rare, chronic, autoimmune bullous dermatosis that is caused by autoantibodies against the noncollagenous terminus of the α chain of type VII collagen, resulting in decreased anchoring fibrils in the lamina densa. It classically presents with skin fragility and trauma-induced blisters that are particularly extensive over the distal aspect of the extremities and that heal with milia, dyspigmentation, and scarring, similar in presentation to dystrophic epidermolysis bullosa. Disease onset is typically in adulthood, although rare cases of childhood disease occur. To our knowledge, a case involving a neonate with congenital EBA has not yet been reported in the literature. We describe a newborn with transient EBA due to the passive transfer of maternal autoantibodies. OBSERVATIONS A 2-day-old girl was evaluated for tense blisters and areas of denuded skin that had been present since birth. Her mother carried the diagnosis of EBA. The results of histopathologic analysis, immunofluorescence studies, and enzyme-linked immunosorbent assay confirmed the diagnosis of neonatal EBA. The patient improved with supportive therapy and has not required systemic intervention. CONCLUSIONS Autoimmune neonatal bullous skin disease caused by placental transfer of maternal IgG autoantibodies is rare. It has been reported in neonates born to mothers with pemphigus vulgaris, pemphigus foliaceus, and gestational pemphigoid. To our knowledge, congenital EBA has not been previously reported. Vertically acquired congenital autoimmune blistering disorders appear to be self-limited and resolve with supportive therapy, concomitant with the presumed clearance of maternal autoantibodies from the neonates circulation.

Clinical Spectrum of Vulva Metastatic Crohn’s Disease

Crohn’s disease is a chronic granulomatous disorder that may involve any segment of the gastrointestinal tract. Extraintestinal manifestations of Crohn’s disease such as erythema nodosum and pyoderma gangrenosum are well recognized and appreciated. However, metastatic Crohn’s disease (MCD), defined as the same granulomatous inflammation seen in Crohn’s disease but at a skin site distant to the gastrointestinal tract, is less well recognized. We report three cases of MCD involving the perianal and vulvar skin that initially presented with vulvar pain.

Development and Validation of Skindex-Teen, a Quality-of-Life Instrument for Adolescents With Skin Disease

OBJECTIVE To develop and validate a quality-of-life index for adolescents with skin disease. DESIGN Prospective, longitudinal cohort study taking place from July 15, 2005, through February 29, 2008. SETTING Academic pediatric dermatology practice. PATIENTS A total of 205 patients between the ages of 12 and 17 years with a skin condition. MAIN OUTCOME MEASURES Participants completed the Skindex-Teen questionnaire, reported sociodemographic data, and answered clinical questions at enrollment. Four weeks later, they completed Skindex-Teen and responded to clinical questions again. Forty patients also completed Skindex-Teen 48 hours after baseline. RESULTS Of 205 patients, 200 (97.6%) completed all enrollment materials; 125 (62.5%) of these returned follow-up materials, of which 115 (57.5%) were complete. Twenty-three of 40 participants (57.5%) completed the 48-hour-after-initial-answers materials. The mean (SD) age of the patients was 15.3 (1.4) years (range, 12.9-18.0 years). Approximately half reported their skin condition as poor (26 [13.0%]) or fair (67 [33.5%]); most rated their general health as very good (62 [31.0%]) or excellent (80 [40.0%]). The dimensionality of the items was evaluated using factor analysis; results suggested 2 factors, termed physical symptoms (5 items) and psychosocial functioning (16 items). Both scales demonstrated excellent internal consistency. All item-scale reliabilities were greater than 0.4. Fit of items to the measurement model was supported by Rasch analysis. Test-retest reliability was supported by intraclass correlation coefficients (0.82-0.94) for total scores, physical symptoms, and psychosocial functioning scales. At 4 weeks, 16 (13.9%) reported worsening of their skin condition, 57 (19.6%) reported it had remained unchanged, and 42 (36.5%) reported improvement. Significant mean differences were present between the improved and worsened groups for the psychosocial functioning scale and total scores. CONCLUSIONS These data provide evidence of construct, content, and face validity for Skindex-Teen, a new quality-of-life instrument for adolescents with skin disease. Test-retest reliability was verified, and responsiveness at 4 weeks was shown for total scores and the psychosocial functioning scale scores.

Topical Sodium Thiosulfate Therapy for Leg Ulcers With Dystrophic Calcification

A 41-year-old African American woman with a 14-year history of systemic lupus erythematosus (SLE) presented with exquisitely painful stellate ulcers with surrounding livedo reticularis on both shins in April 2006. In addition to smallvessel involvement, her connective tissue disease was characterized by pulmonary fibrosis, pulmonary hypertension requiring continuous oxygen supplementation, Raynaud phenomenon,andchronicrightpoplitealdeepvenousthrombosis. Her medications included prednisone (5 mg/d), methotrexate (12.5 mg/wk), folic acid, hydroxychloroquine, pentoxyphilline, coumadin, budesonide inhaler, fluticasone inhaler, fexofenadine, erythropoietin, sildenafil, amlodipine, gabapentin, acetaminophen-codeine, tramadol hydrochloride, famciclovir, tolterodine, calcium supplement, vitamin E supplement, alendronate, and esomeprazole. The results of laboratory tests were remarkable for the following values: hemoglobin, 8.8 g/dL (to convert to grams per liter, multiply by 10.0); hematocrit, 27.1% (reference range, 34%-45%); antinuclear antibody, 1:1280 speckled; double-stranded DNA, 52.1 IU/mL (reference value, 5 IU/mL); nRNP/Sm IgG autoantibodies, 118.0 U ( 5.0 U); Sm IgG autoantibodies, 114.0 U (reference value, 5.0 U); SSA IgG autoantibodies, 158.0 U (reference value, 5.0 U); SSB IgG autoantibodies, 167.0 U (reference value, 5.0 U); C3 complement, 49 mg/dL (reference range, 82-235 mg/dL), anticardiolipin antibody IgG, 50 IgG phospholipid units (reference value, 15 IgG phospholipid units); and iron, 13 μg/dL (to convert to micromoles per liter, multiply by 0.179) (reference range, 40170 μg/dL). The findings of urinalysis were normal, as were renal and liver functions. Magnetic resonance imaging of the bilateral lower extremities showed no evidence of osteomyelitis. On examination, the distal portion of the patient’s extremities were cyanotic and cold, with sclerodactyly, finger pad atrophy, and bone resorption. The shin ulcers were 10.0 12.5 cm bilaterally. Initial management included increasing the patient’s immunosuppressive regimen with intravenous solumedrol (3 boluses, 1 g each), raising her dose of erythropoietin, and adding oral iron supplements. Intensive topical therapy with daily aluminum subacetate compresses was initiated, followed by the application of hydrogel (polyethylene oxide with 96% water) dressings for pain relief and triamcinolone acetonide, 0.1%, ointment around the wounds. Within 2 weeks, the wound odor had increased. The compress solution was changed to acetic acid for gram-negative bacterial coverage, and the dressing was changed to a hydrophilic polyurethane membrane matrix (foam) dressing. By late September 2006, the patient’s pain was still incapacitating, and her ulcers had increased in size despite the early appearance of deep granulation tissue. Each ulcer was purulent and foul smelling, despite intermittent use of oral ciprofloxacin and clindamycin. There were many small, hard, yellow granules across the surfaces and penetrating the tissue of the wounds (Figure 1). Several attempts at debridement were made, but they were extremely painful, requiring preprocedure narcotic administration. Histologic examination of the tissue fragments revealed an ulcerated epidermis with dense neutrophilic infiltration and dermal and subcutaneous suppurative and granulomatous inflammation, with calcification, bone formation, a mixed inflammatory infiltrate, and an area of dermal necrosis (Figure 2). A diagnosis of dystrophic calcification in the presence of SLE was made.

Superficial Fungal Infections in Children

Superficial fungal infections can involve the hair, skin, and nails. Most affected children are healthy, although immunosuppression is a risk factor for more severe presentation. Causative organisms typically are members of the Trichophyton, Microsporum, and Epidermophyton genera (dermatophytes), can be acquired from other infected humans, animals, or soil, and illicit a host inflammatory response. Nondermatophyte infections include pityriasis versicolor. In this article, the most common clinical presentations, diagnostic recommendations, and treatment algorithms for dermatophyte and nondermatophyte mycoses in children and adolescents are described.

Quality of life in pediatric dermatology.

Skin disease is highly prevalent in the United States, and it has been well-documented that patients with skin disease experience financial, psychological, social, and quality-of-life (QoL) burdens beyond those of the general population. Pediatric patients and their caregivers are particularly vulnerable to the burden of skin disease. Over the past decade disease-specific indices for QoL measurement in pediatric dermatology have been developed. Most of this research has focused on acne, atopic dermatitis, hemangiomas, ichythosis, psoriasis, and vitiligo. This article provides an overview of QoL assessment in pediatric dermatology for these six conditions.

Periorificial dermatitis due to systemic corticosteroids in children: report of two cases.

Abstract:  Periorificial dermatitis is a common acneiform eruption that is thought to represent a variant of rosacea. These patients typically present with uniform erythematous papules most commonly located periorally but also occurring around the nose and eyelids. This eruption has been linked to topical corticosteroid use, with only a few reports in the literature associated with systemic steroid use in adults. Here, we report two cases of periorificial dermatitis occurring after systemic corticosteroid use in children.

Not Just a Diaper Rash: LUMBAR Syndrome

Figure 2. Ulcerated, vascular perianal patch with ulceration. Red genital macules and asymmetric scrotum. A 4-month-old boy was referred to our service for a “diaper rash,” which developed shortly after birth. The eruption had not responded to topical barrier, antibacterial, and antifungal treatments. Examination demonstrated a vascular patch in the lumbosacral region with ulcers and perianal accentuation. Vascular genital macules, marked scrotal asymmetry, a superficial gluteal pit, and cleft deviation were noted (Figures 1 and 2). Magnetic resonance imaging of the spine and pelvis revealed multiple pelvic hemangiomas, intraspinal myelolipoma, and tethered cord (Figure 3). Renal ultrasound showed mild pelvic dilation. A diagnosis of LUMBAR syndrome (lower body infantile hemangioma, urogential anomalies, ulceration, myelopathy, bony deformities, anorectal malformations, arterial anomalies, and renal anomalies) was made, and he was referred for neurosurgical management. LUMBAR syndrome is a rare association of segmental lower-body infantile hemangiomas and underlying abnormalities. The precise etiology is unknown but thought to be due to a field defect early in development. PELVIS and SACRAL are alternative acronyms for the same association. LUMBAR syndrome must be considered in any child with a segmental hemangioma at the lumbosacral/perineal location or lower extremity, particularly if other anomalies are present in the same anatomic region. Often the hemangioma

Complications of ichthyosis beyond the skin

Although ichthyoses are noted for their skin features, like many dermatologic conditions, patients are often impacted in ways beyond the skin. Much has been described in recent years regarding quality of life and skin disorders. This is certainly the case for ichthyosis. For neonates or others with diffuse involvement of their skin, nutritional needs are often exceeding normal requirements. These can often result in growth abnormalities. Lastly, with specific subtypes of ichthyosis, compromise of tissues around the eyes and ears can be of concern to some patients. Certainly, some forms of ichthyosis are routinely complicated by such findings. It is important for practitioners caring for individuals with ichthyosis to have these issues in mind.

Sialoblastoma: An unexpected diagnosis

increased MAP kinase activity and elevated levels of phosphorylated ERK. Poulikakos et al have shown that in the presence of active RAS, wild-type BRAF forms dimers. When vemurafenib binds to the kinase domain of one of the two proteins in the dimer, transactivation of the kinase domain of the other protein in the dimer occurs, resulting in increased activity of the MAP kinase pathway. Conversely, V600E-mutated BRAF cells have low levels of RAS and do not form dimers. We speculate that the abrupt changes seen acutely in our patient treated with vemurafenib are the result of transactivation of wildtype BRAF. More studies to assess the risk of wildtype BRAF melanoma in patients treated with vemurafenib and other selective BRAF inhibitors and documentation of potential changes in nevi in these patients are needed.