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The availability of whole-exome sequencing has revolutionized the study of genetic disease in recent years, particularly in dermatology, where clinical phenotypes are readily recognized. As this technology becomes increasingly affordable and accessible, questions are emerging regarding the clinical and ethical responsibilities of physicians who determine variants underlying disease, especially with regard to children, for whom treatment may be warranted and clinical course improved based on a known genotype. These responsibilities are accentuated in the developing countries, which harbor most consanguineous populations and thus bear the brunt of monogenic genodermatoses. Although many genetic disorders are identified in these populations, limited educational and clinical infrastructure rarely offers opportunities to improve the course of disease. Here we report a genetic study that illustrates these challenges.

© 2014 The Authors. Somatic mutations in cancer are more frequent in heterochromatic and late-replicating regions of the genome. We report that regional disparities in mutation density are virtually abolished within transcriptionally silent genomic regions of cutaneous squamous cell carcinomas (cSCCs) arising in an XPC-/-background. XPC-/-cells lack global genome nucleotide excision repair (GG-NER), thus establishing differential access of DNA repair machinery within chromatin-rich regions of the genome as the primarycause for the regional disparity. Strikingly, we find that increasing levels of transcription reduce mutation prevalence on both strands of gene bodies embedded within H3K9me3-dense regions, and only to those levels observed in H3K9me3-sparse regions, also in an XPC-dependent manner. Therefore, transcription appears to reduce mutation prevalence specifically by relieving the constraints imposed by chromatin structure on DNA repair. We model this relationship among transcription, chromatin state, and DNA repair, revealing a new, personalized determinant of cancer risk.

Nevus sebaceus syndrome (SNS) is a constellation of nevus sebaceus with extracutaneous findings, including the ophthalmologic nervous, and musculoskeletal systems. Didymosis aplasticosebacea is a recently described entity consisting of aplasia cutis congenita and nevus sebaceus, implying twin spotting (didymosis). We describe a neonate with a nevus sebaceus on the scalp and a limbal dermoid on her left eye. Contiguous with the nevus sebaceus was a giant congenital melanocytic nevus and numerous areas of membranous aplasia cutis congenita. We propose the acronym SCALP (nevus sebaceus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus) to summarize the unique features of this case and review the two similar cases in the literature.

Elastosis perforans serpiginosa is a rare chronic dermatosis characterized by extrusion of altered elastic fibers through the epidermis. It often occurs in association with a variety of connective tissue disorders, and may develop following penicillamine therapy; however, it may also present without comorbidities. There are currently no well-established protocols for the investigation of possible associated disorders in patients who present with elastosis perforans serpiginosa. We describe three patients with idiopathic elastosis perforans serpiginosa seen at our clinic and review the standard of care among 31 pediatric dermatologists surveyed who have cared for such a patient within the last 2 years. Based upon the results of our survey, we conclude that most pediatric dermatologists limit their evaluation of such patients to a thorough patient history and physical examination. This limited approach may be a sufficient evaluation in affected patients who are otherwise healthy.

Infantile acne is a rare occurrence. It is more common in boys and predominately occurs on the cheeks in infants between the ages of 1 and 16 months. Clinically, the lesions range from comedones to inflammatory papulopustules to cysts. Successful therapies include topical tretinoin, benzoyl peroxide and topical and oral erythromycin. For more serious cases, oral isotretinoin (Accutane) has been reported to successfully treat recalcitrant infantile cystic acne. We describe two additional patients with infantile cystic acne treated successfully with oral isotretinoin. The dose of isotretinoin used ranged from 0.2 mg/kg/day to 1.5 mg/kg/day. The treatment duration varied from 5 to 14 months. Careful monthly monitoring is recommended because of the many side effects reported with isotretinoin. Practical tips for the administration of oral isotretinoin in infants are reviewed.

Dyskeratosis congenita is a rare, progressive, degenerative disorder characterized by cutaneous and mucosal involvement in the first decade of life with malignant changes and bone marrow failure in the second and third decades. The primary inheritance pattern is X-linked recessive, with the majority of cases presenting in boys. We report dyskeratosis congenita in an adolescent girl with choanal atresia, a previously unreported association.

Hemangiomas are benign endothelial tumors. Often referred to as hemangiomas of infancy (HOI), these tumors are the most common tumor of infancy. Most of these lesions proliferate rapidly in the first months of life, and subsequently slowly involute during early childhood without significant complications. However, they often develop on the head or neck, and may pose a significant cosmetic concern for families. In addition, a fraction of these tumors can grow explosively and ulcerate, bleed, or obstruct vision or airway structures. Current treatments for these tumors are associated with significant side effects, and our knowledge of the biology of hemangiomas is limited. The natural evolution of these lesions creates a unique opportunity to study the changes in gene expression that occur as the endothelium of these tumors proliferates and then subsequently regresses. Such information may also increase our understanding of the basic principals of angiogenesis in normal and abnormal tissue. We have performed large-scale genomic analysis of hemangioma gene expression using DNA microarrays. We recently identified insulin-like growth factor 2 as a potentially important regulator of hemangioma growth using this approach. However, little is known about the mechanisms involved in hemangioma involution. Here we explore the idea that hemangioma involution might be an immune-mediated process and present data to support this concept. We also demonstrate that proliferating hemangiomas express indoleamine 2,3 dioxygenase (IDO) and discuss a possible mechanism that accounts for the often slow regression of these lesions.

We describe 8 children with hyper-IgE syndrome who had papulopustular eruption on the face and scalp in the first year of life. Seven of the 8 patients had persistent peripheral eosinophilia and 3 had leukocytosis noted before diagnosis. Skin biopsy specimens in 6 patients revealed spongiosis and perivascular dermatitis and/or folliculitis with a predominance of eosinophils. Two patients had bone fractures and osteopenia. Recurrent pneumonia occurred in 6 children and pneumatoceles in 5. The diagnosis of hyper-IgE syndrome was made an average of 18 months after the onset of the initial papulopustular eruption. These findings may lead to earlier recognition of the disease and institution of appropriate treatment.

We studied three newly diagnosed xeroderma pigmentosum complementation group G patients with markedly different clinical features. An Israeli-Palestinian girl (XP96TA) had severe abnormalities suggestive of the xeroderma pigmentosum/Cockayne syndrome complex including sun sensitivity, neurologic and developmental impairment, and death by age 6 y. A Caucasian girl (XP82DC) also had severe sun sensitivity with neurologic and developmental impairment and died at 5.8 y. In contrast, a mildly affected 14-y-old Caucasian female (XP65BE) had sun sensitivity but no neurologic abnormalities. XP96TA, XP82DC, and XP65BE fibroblasts showed marked reductions in post-ultraviolet cell survival and DNA repair but these were higher in XP65BE than in XP82DC. XP96TA fibroblasts had very low XPG mRNA expression levels whereas XP65BE fibroblasts had nearly normal levels. Host cell reactivation of an ultraviolet-treated reporter assigned all three fibroblast strains to the rare xeroderma pigmentosum complementation group G (only 10 other patients previously reported). XP96TA and XP82DC cells had mutations in both XPG alleles that are predicted to result in severely truncated proteins including stop codons and two base frameshifts. The mild XP65BE patient had an early stop codon mutation in the paternal allele. The XP65BE maternal allele had a single base missense mutation (G2817A, Ala874Thr) that showed residual ability to complement xeroderma pigmentosum complementation group G cells. These observations agree with earlier studies demonstrating that XPG mutations, which are predicted to lead to severely truncated proteins in both alleles, were associated with severe xeroderma pigmentosum/Cockayne syndrome neurologic symptoms. Retaining residual functional activity in one allele was associated with mild clinical features without neurologic abnormalities.

Topical anesthetics are increasingly important, as the number of outpatient surgeries for dermatologic problems in infants and children is steadily growing. This noninvasive modality of anesthetic delivery in conjunction with a reassuring environment may minimize the discomfort of otherwise painful procedures. Since the 1880s, when cocaine was first used as a topical ophthalmologic anesthetic, many ester-and amide-based local anesthetics have been developed for a variety of simple and complex procedures. The pediatric dermatologist's arsenal of topical anesthetic preparations is increasing with the development of novel vehicles of transdermal delivery and the use of anesthetics in combination. Eutectic mixture of local anesthetics is currently the most frequently prescribed topical agent, though the use of ELA-max, another lidocaine-containing preparation, is gaining momentum, especially in the neonatal population. Amethocaine, tetracaine, iontophoresis, and the S-caine patch, a product on the horizon for use in the pediatric population, also are included in this discussion.

Localized scleroderma refers to a diverse spectrum of disorders that involve fibrosis of the skin. Children are more likely than adults to develop localized forms of scleroderma. This condition may have devastating effects on growth and development such as limb asymmetry, flexion contractures, and psychological disability. The pathogenesis of localized scleroderma is unknown but its possible relation to Borrelial infection is discussed. This article reviews associated laboratory and radiologic abnormalities, and discusses implications for monitoring disease activity. There is no universally effective therapy for this idiopathic condition and therapy is limited. A rationale for treatment based on disease subtype and severity is provided.

Objective. To evaluate the accuracy of the cotton swab technique for identifying fungal infections of the scalp. The purpose of the study was: 1) to compare the cotton swab technique with the toothbrush method, a popular and reliable means for obtaining specimens; and 2) to ascertain if transport of a specimen, entailing variable transport duration and conditions, impairs the sensitivity and specificity of the technique. Materials and Methods. Part 1 consisted of a prospective, investigator-blinded comparison analysis. Fifty children with scalp findings suspicious for tinea capitis were cultured using both techniques: the toothbrush and cotton swab. Ninety-six culture results were obtained for analysis. The second part of the study consisted of a prospective comparison analysis of cotton swab culture results obtained from samples plated immediately after collection in the physician's office as compared with samples transported to outside laboratories for processing. Thirty-one children with presumed tinea capitis were cultured twice with the cotton swab technique; one sample was immediately plated onto fungal medium and the other sent to an outside lab, the selection of which was dictated by the patient's insurance plan. A total of 62 samples were obtained; 58 sample results were used for analysis. Results. In part 1 of the study, 60% of the 48 children analyzed had positive fungal cultures. Eighty percent of these wereTrichophyton species. There was 100% agreement in the results obtained; all patients with positive results using the toothbrush method were also positive when the cotton swab method was used. Similarly, there was complete concordance in laboratory results from the second part of the study. Fifty percent of the 28 children analyzed had positive cultures; 86% grew Trichophytonspecies. All patients who had positive cultures from those samples plated in-office also had positive results from the outside laboratory samples. Conclusions. The cotton swab technique is an easy, atraumatic, inexpensive, and reliable means to evaluate patients with suspected tinea capitis. The method remains sensitive and specific even when transport of these specimens is required and processing is thus delayed. This painless technique requires little technical expertise and can be rapidly performed with a standard cotton tip applicator. It should prove an invaluable aid to practitioners in evaluating patients with possible fungal infections of the scalp.

Dermatologic procedures in children can range from simple paring of warts to laser surgery and complex excisions with repair. These procedures may be more challenging to perform in children because of increased fear, anxiety, and pain perception. The approach to dermatologic procedures should be tailored to the age and individual needs of each child. Honest but unthreatening explanations of the procedure, distraction techniques, and postoperative praise and rewards can be very helpful. Topical anesthetic such as EMLA (eutectic mixture of local anesthetics) cream and benzocaine gel can help to decrease the pain of procedures. Buffering and warming lidocaine before infiltration is recommended. Physicians should be aware of the benefits and risks of preoperative analgesics and sedatives and of applicable guidelines for their appropriate use. For more painful procedures, larger procedures, or surgical procedures in young children, general anesthetics may be appropriate. Risks and benefits of the use of general anesthetics in the pediatric population are reviewed with specific emphasis on issues specific to pulsed-dye laser in children. Knowledge of techniques used to decrease the pain and anxiety of procedures can assist in making them a better experience for children, families, and physicians.

Objective. Blue light phototherapy is commonly administered to neonates as treatment of indirect hyperbilirubinemia, often in conjunction with blood transfusions to treat hemolytic anemia. We observed a distinctive cutaneous complication of phototherapy in six neonates with hyperbilirubinemia. Methodology. We studied the clinical and histologic characteristics of the eruption, as well as the porphyrin levels in affected neonates. Five of the patients had erythroblastosis fetalis; the other had profound anemia from twin–twin transfusion. All of the neonates developed purpuric patches at sites of maximal exposure to the phototherapy lights, with dramatic sparing at shielded sites within 24 hours after initiation of the phototherapy. On discontinuation of phototherapy, all eruptions cleared within 1 week. Examination of skin biopsy sections showed purpura without significant inflammation or keratinocyte necrosis. Plasma porphyrins (copro- and proto-) were elevated in the two patients in which they were assessed. Conclusions. The distribution of the eruption in areas exposed to light and presence of circulating porphyrins suggest that porphyrinemia may underlie the light-induced purpuric eruption. Additional studies will be required to determine definitively the mechanisms of both the purpuric phototherapy-induced eruption and the development of increased blood porphyrin levels in these transfused neonates.

Xeroderma pigmentosum (XP) is a group of rare inherited human neurocutaneous diseases, and the group C (XPC) is the major group of patients with XP in Europe, North America, and South America. Current molecular diagnostic methods for XP require specialized, expensive, and time-consuming UV sensitivity and DNA repair assays followed by gene sequencing. To determine whether immunohistochemistry (IHC) would be a robust alternative method to diagnose patients with XPC, we stained sections of paraffin-embedded skin biopsies for XPC by IHC, using 69 archived blocks from confirmed or clinically suspect patients with XPA, XPC, XPD, XPE, and without XP. We found that XPC expression was strong in all skin biopsies from patients without (14 of 14) and other patients with XP (4 of 4), whereas XPC expression was lost in all biopsies from confirmed XPC patients (29 of 29). Patches of strong XPC signal could be detected in sun-damaged skin, squamous and basal cell carcinomas from patients with XPC that colocalized with strong expression of p53 and Ki-67. Patients with XPC can therefore be diagnosed by IHC from paraffin-embedded skin biopsies from regions of skin that are without sun damage or sun-induced tumors. IHC is therefore a robust alternative method to diagnose patients with XPC. This fast and inexpensive method should increase the options for the diagnosis of patients with XPC from paraffin-embedded skin biopsies and could be developed for other complementation groups.

Warts are a common pediatric skin disease. Most treatments show only modest benefit, and some are poorly tolerated because of pain. 5-fluorouracil interferes with deoxyribonucleic acid and ribonucleic acid synthesis, and is used to treat genital warts in adults. Efficacy, safety, and tolerability of topical 5% 5-fluorouracil for treatment of common warts were examined in an open-label pilot study with pediatric patients. Thirty-nine children who have at least two hand warts applied 5% 5-fluorouracil cream (Efudex, Valeant Pharmaceuticals International) once or twice daily, under occlusion for 6 weeks. Assessment of treatment response and side effects was performed at baseline, treatment completion, and 3- and 6-month follow-ups. Hematology measures, liver function tests, and medication blood levels were reassessed at treatment completion. Eighty-eight percent of treated warts improved after 6 weeks of treatment, and 41% of subjects had complete resolution of at least one wart. Treatment response did not differ between once or twice daily applications. Tolerability and patient satisfaction were excellent. No subject had clinically significant blood levels of 5-fluorouracil. At 6 month follow-up, 87% of complete responders had no wart recurrence. Topical 5% 5-fluorouracil is a safe, effective, and well-tolerated treatment for warts in children.

Skin grafts from the groin area were used to repair syndactyly of the fourth and fifth fingers in an 8-month-old infant with oculodentodigital dysplasia (ODD). At 12 years of age, he developed hyperpigmented velvety plaques at the repair sites. This patient is the first reported case of acanthosis nigricans (AN) occurring in a graft site after syndactyly repair. We propose the term ectopic acanthosis nigricans to describe the phenomenon of AN occurring in transplanted skin away from the original donor site.

Young children, especially toddlers, are anxious and uncooperative during skin procedures. Wrapping a sheet or blanket around the child is an effective way to restrain the child to maintain a sterile field. The wrap can be used for skin biopsies and small excisions on the midsection of the body, arms, and legs.

Performing dermatologic surgery in infants and children presents unique challenges. A thorough understanding of both pediatric developmental milestones and their unique surgical circumstances is essential to providing optimal dermatologic care of the pediatric patient. In this work, we combine the authors' experiences with data from the literature to provide pediatric dermatologic procedural pearls.

Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results of an enzymatic assay and genomic DNA testing in cultured skin fibroblasts confirmed a homozygous C237Y mutation. These findings support the rich diversity of mutations associated with this syndrome.

Infantile myofibromatosis (IM) is a nonmetastasizing locally invasive neoplasm. The behavior of the tumor is more hamartomatous than tumoral, and it is unclear whether the cell of origin is a fibroblast or a smooth muscle myocyte. Lesions typically present during infancy and range in size from a few millimeters to several centimeters. We present an unusual case of a patient with an atrophic variant of IM.

Objective To assess the safety and adverse events associated with the use of general anesthesia in children undergoing elective dermatologic procedures. Design A multicenter retrospective review. Setting Children’s Hospital and Health Center, San Diego, Calif, and Northwestern University School of Medicine, Chicago, Ill. Patients The study population comprised 269 children and adolescents ranging in age from 2 months to 18 years (881 procedures performed by 6 pediatric dermatologic and laser surgeons). Main Outcome Measures The risk of an adverse event occurring during general anesthesia for pediatric dermatologic procedures. Results The risk of general anesthesia in elective pediatric dermatologic procedures was low: 90% of patients experienced no clinically relevant complications. The most common clinically relevant adverse effect of general anesthesia was perioperative nausea and emesis, which was noted in 4% of patients. There were no serious life-threatening events noted, and the mortality rate was 0%. Conclusion The use of general anesthesia for dermatologic procedures in a children’s hospital setting appears safe, with a low rate of complications.

As our understanding of connective tissue disease expands, so too does our therapeutic armamentarium. We have learned that autoimmunity triggers inflammation through unchecked, proliferative cell-mediated inflammation. By targeting this arm of the cytokine cascade, it may be possible to arrest further progression. Several biologic agents, such as etanercept, alefacept, infliximab, efaluzimab, and, recently, adalimumab, have come to market for adult psoriasis and are now undergoing trials for juvenile SLE, psoriasis, and psoriatic arthritis. Of note, etanercept has been used successfully in juvenile rheumatoid arthritis for more than 10 years. These agents target cell-mediated inflammation through various mechanisms and hold great promise for the treatment of many of the disease states discussed above. Moreover, the biologics carry an improved side-effect profile not seen with traditional agents such as corticosteroids and will be central in the evolution of targeted therapeutics for these complex immunologic diseases.

Reason for withdrawal from publication The current authors have relinquished responsibility for this protocol (Managing Editor, Cochrane Skin Group). To view the published versions of this article, please click the 'Other versions' tab.

A 39-year-old man with Down syndrome presented with a long-standing history of an eruption over his hands and arms. The eruption, which was completely asymptomatic, had been an incidental finding by his general practitioner, who had been treating him for a fungal toenail infection. Physical examination revealed a pigmented papular eruption that tended to occur in clumps on the lateral and medial aspects of the patient’s feet (Figure 1) as well as on his forearms (Figure 2). He also had dystrophy of his toenails.Theresultsof therestof theskinexaminationwere unremarkable.Apunchbiopsyspecimenwasobtainedfrom one of the lesions on the forearm (Figure 3). What is your diagnosis?

Despite aggressive sun protection, most individuals with xeroderma pigmentosum (XP) develop cutaneous neoplasia, including actinic keratoses. We describe the case of a 16-year-old girl with XP type C treated safely with photodynamic therapy (PDT). Although there is little if any evidence in the literature supporting the use of aminolevulinic acid PDT in individuals with XP, they may be the ideal candidates for PDT treatment because the profound post-treatment photosensitivity and strict post-therapy sun avoidance necessitated by PDT treatment is already part of the everyday lifestyle of people with XP.

Objective. A double-randomized, blinded crossover trial was performed to assess the efficacy of ELA-Max (4% liposomal lidocaine) as compared with eutectic mixture of local anesthetics (EMLA) for pain relief during pediatric venipuncture procedures. Safety was assessed by evaluation for topical or systemic effects and measurement of serum lidocaine concentrations.Methods. A total of 120 children who were scheduled for repeat venipuncture for non–study-related reasons at 2 sites participated in the study. Patients were doubly randomized to treatment regimen (study medication application time of either 30 or 60 minutes) and to the order of application of the topical anesthetics for each venipuncture. The primary outcome measures were the child’s rating of pain immediately after the venipuncture procedures using a 100-mm visual analog scale (VAS) tool and the parent’s and blinded research observer’s Observed Behavioral Distress scores.Results. Both ELA-Max and EMLA seemed to alleviate venipuncture pain. There was no clinically or statistically significant difference in the patient VAS scores within the 30-minute or 60-minute treatment groups, and there was no clinical or statistical difference in VAS scores between the 30-minute ELA-Max treatment without occlusion and the 60-minute EMLA treatment with occlusion. There were no clinically or statistically significant differences between treatment with ELA-Max and EMLA in parental or blinded researcher Observed Behavioral Distress scores, the most frequent response at any observation time being “no distress.”Conclusion. This study demonstrates that a 30-minute application of ELA-Max without occlusion is as safe and as effective for ameliorating pain associated with venipuncture as a 60-minute application of the prescription product EMLA requiring occlusion.

We report two pediatric patients who had biopsies of solitary lesions diagnosed as epithelioid blue nevi. Histologically these lesions had wedge-shaped, heavily pigmented infiltrates extending to the subcutaneous fat. The infiltrate was composed of spindled and polyhedral cells that were nevomelanocytic cells with nuclear pleomorphism. Also noted were pigmented globular cells interpreted as melanophages. These lesions have the same characteristics as those blue nevi occurring in patients with Carney complex. More recently, adult patients have been identified with similar nevi, but without evidence of Carney complex. To our knowledge, pediatric patients with epithelioid blue nevi, but no evidence of Carney complex have not been described previously.

Numerous advances in surgery and laser therapy applicable to pediatric dermatologic practice have been made. The use of EMLA (eutectic mixture of local anesthetics; Astra USA, Westborough, MA) cream (lidocaine and prilocaine) is invaluable for office dermatologic procedures in children. Despite high patient tolerance, rare adverse events have been described. Newer topical anesthetics with faster onset and greater efficacy are discussed, with special emphasis on their application to the pediatric dermatology patient. Appropriately administered, these newer agents may make certain procedures in children painless or minimally uncomfortable. Newer, improved tissue adhesives are under development and may replace and surpass traditional surface suturing. Limitations to the use of the pulsed dye laser for vascular lesions in children are discussed.

Background: Morphea and linear scleroderma are characterized by erythema, induration, telangiectasia, and dyspigmentation. There is no universally effective treatment. Oral calcitriol has been beneficial in the treatment of localized and extensive morphea/scleroderma, but the use of topical calcipotriene has not been reported. Objective: The purpose of this study was to evaluate the efficacy and safety of topical calcipotriene 0.005% ointment in the treatment of localized scleroderma. Methods: In a 3-month open-label study, 12 patients aged 12 to 38 years with biopsy-documented active morphea or linear scleroderma applied calcipotriene ointment under occlusion twice daily to plaques for 3 months. The condition of each patient had previously failed to respond to potent topical corticosteroids and, for some patients, systemic medications. Efficacy was assessed at baseline, 1 month, and 3 months. Levels of serum ionized calcium, intact parathyroid hormone, and 1,25-dihydroxyvitamin D and of random urinary calcium excretion were measured. Results: During the 3-month trial, the condition of all 12 patients showed statistically significant improvement in all studied features. No adverse effects were reported or detected through laboratory monitoring of mineral metabolism. Conclusion: Topical calcipotriene 0.005% ointment may be an effective treatment for localized scleroderma, but double-blind placebo controlled studies are needed for confirmation. (J Am Acad Dermatol 1998;39:211-5.)

Rat bite fever is an uncommon bacterial illness resulting from infection with Streptobacillus moniliformis that is often transmitted by the bite of a rat. The cutaneous findings in rat bite fever are nonspecific but have been described as maculopapular or petechial. We describe a 9-year-old girl with acrally distributed hemorrhagic pustules, fever, and arthralgias. Diagnosis was delayed because of difficulty in identifying the pathologic organism. She was successfully treated with 10 days of ceftriaxone. (J Am Acad Dermatol 1998;38:330-2.)

Background: Epidermolysis bullosa acquisita (EBA) is a chronic subepidermal blistering disease that is difficult to treat. Recently one patient with severe EBA was described who responded dramatically to colchicine. Objective: Our purpose was to determine the efficacy of colchicine in the treatment of EBA. Methods: Four patients with severe EBA refractory to conventional therapy were treated with colchicine 0.6 to 1.5 mg a day for up to 4 years. Results: In all four patients the lessening of skin fragility and the decrease in spontaneous blister formation were dramatic; few side effects were noted. Conclusion: Colchicine should be considered in the treatment of EBA.

Acute hemorrhagic edema of childhood is an unusual form of leukocytoclastic vasculitis previously reported in children age 4 months to 3 years. The etiology remains unknown, however, many authors describe the process as an immune-mediated vasculitis in response to a variety of antigenic stimuli. We report a case of congenital acute hemorrhagic edema of childhood associated with maternal gastroenteritis six weeks before delivery.