Focus on the diagnostic problems of primary adenocarcinoma of the third and fourth portion of the duodenum. Case report.

G Chir. 2015 Jul-Aug;36(4):183-6

Authors: Bandi M, Scagliarini L, Anania G, Pedriali M, Resta G

Abstract
Although the small intestine constitutes over 75% of the length and 90% of the mucosal surface of the gastrointestinal tract, small intestine cancer is rare and accounts for only 1% of gastrointestinal malignancies. Adenocarcinoma together with carcinoid tumours are the most common histological types of primary malignant tumours of the small bowel but others, including lymphoma and leiomyosarcoma, may less frequently be encountered. Adenocarcinomas are predominantly located in the duodenum. Primary adenocarcinoma of the duodenum is a rare malignant tumor, accounting for 0.3-0.5% of all gastroenteral malignancies. The diagnosis of primary adenocarcinoma of duodenum is often delayed because its symptoms and signs are nonspecific. In this work we want to focus on the diagnostic and therapeutic problems of duodenal adenocarcinoma, reporting a case report.

PMID: 26712074 [PubMed - indexed for MEDLINE]

A rare localization of cerebral venous sinus thrombosis. Case report.

G Chir. 2015 Mar-Apr;36(2):79-83

Authors: Carangelo B, Lavalle L, Tiezzi G, Branco D, Lippa L, Mileo E, Costantino G, Mariottini A, Muscas G, Maturo A

Abstract
In this work the Authors report their experience on the treatment of a case of cavernous venous sinus thrombosis. The diagnosis is clinical and neuroradiological, CT, MRN, cerebral angiography and orbital venography have aided in establishing the diagnosis during life. Very interesting is the therapeutic approach.

PMID: 26017108 [PubMed - indexed for MEDLINE]

A study of mucosal melanoma of the oral cavity in India: a rare tumor.

Ear Nose Throat J. 2014 Aug;93(8):E4-7

Authors: Chaturvedi P, Lerra S, Gupta P, Pai PS, Chaukar DA, Agarwal JP, D'Cruz AK

Abstract
Malignant melanomas involving the mucosa are rare and aggressive lesions. Their rarity has made the formulation of staging and treatment protocols very difficult, as most of the available information comes from case reports and small case series. We conducted a retrospective study to analyze the behavior of melanomas of the oral mucosa in patients who were treated at Tata Memorial Hospital in Mumbai, a tertiary care referral center for malignancies and one of the largest cancer centers on the Indian subcontinent. During the 22-year period from January 1986 through December 2007, we found only 13 such cases, which had occurred in 8 men and 5 women, aged 26 to 70 years (mean: 37.5). All patients had been offered surgery with curative intent. Mucosal melanomas have exhibited a greater tendency for distant recurrence than for local treatment failure, which is why adjuvant radiation therapy has not been shown to confer any consistent benefit. In our study, only 3 of the 13 patients (23.1%) remained alive 2 years after diagnosis, despite aggressive treatment. Tumor staging, optimal treatment, and prognostic factors for oral mucosal melanoma are far from clear, and further research is needed. Despite the small number of patients in this study, it still represents one of the largest series of oral mucosal melanoma patients in India.

PMID: 25181674 [PubMed - indexed for MEDLINE]

Malignant Pyoderma Associated with Granulomatosis with Polyangiitis (Wegener Granulomatosis) as a Unique Indication for Facial Vascularized Composite Allotransplantation: Part I.

Plast Reconstr Surg. 2016 Jun;137(6):1007e-1015e

Authors: Gastman B, Hashem AM, Djohan R, Bernard S, Hendrickson M, Schwarz G, Gharb BB, Rampazzo A, Fernandez A, Zins J, Hoffman GS, Doumit G, Siemionow M, Papay F

Abstract
BACKGROUND: Granulomatosis with polyangiitis (Wegener granulomatosis) is a rare disease that commonly starts in the craniofacial region and can lead to considerable facial disfigurement. Granulomas and vasculitis, however, can involve many other tissues (especially pulmonary and renal). Dermatologic and subcutaneous components can lead to malignant pyoderma.
METHODS: The authors describe a unique pathologic condition, where significant Le Fort type trauma was associated with subsequent development of granulomatosis with polyangiitis and malignant pyoderma. Successive operations to excise necrotic tissue and reconstruct the defects were followed by worsening inflammation and tissue erosions. Trauma and surgery in proximity to the eye and sinuses masked the initial clinical presentation and led to delay in diagnosis and disease progression. The resultant facial disfigurement and tissue loss were substantial.
RESULTS: Despite multiple confounding factors, accurate diagnosis was eventually established. This was based on persistence of sinus inflammations in the absence of infective agents, proven sterility of lung lesions, and antineutrophil cytoplasmic antibody positivity with proteinase 3 specificity. Skin lesion biopsy specimens were identified as pyoderma gangrenosum and later as malignant pyoderma. Institution of immunosuppressive therapy allowed successful control of the disease and wound healing. The resulting craniofacial destruction, however, necessitated facial vascularized composite allotransplantation.
CONCLUSION: Recognition of this rare pathologic association is essential, to prevent delays in diagnosis and treatment that can lead to major craniofacial tissue loss.
CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, V.

PMID: 27219252 [PubMed - as supplied by publisher]

[Peutz-Jeghers syndrome manifested as massive melæna at CHU-JRA Madagascar hospital: a case report].

Pan Afr Med J. 2016;23:78

Authors: Martinetti AF, Andriantsoa RM, Andriambelo RT, Nicole RR, Enintsoa RN

Abstract
Peutz-Jeghers syndrome (SPJ) is characterized by intestinal hamartomatous polyps in association with mucocutaneous lentiginosis. Patients are exposed to mechanical and bleeding complications. It is a cancer predisposition syndrome. Our study highlights the diagnostic criteria for Peutz-Jeghers syndrome (SPJ), the complications and the therapeutic progresses in patient care. We report the case of a 32-year-old male presenting with a massive melaena. It was hospitalized in the surgical intensive care unit with hypovolemic shock difficult to control. This required surgical intervention to stop bleeding. We found a hamartomatous polyps in the small intestine which caused bleeding. Peutz Jeghers Syndrome was diagnosed on the basis of labial lentigines during childhood. Clinical and paraclinical explorations did not reveal the presence of cancer. In Madagascar, this disease is still poorly understood. In the literature, the diagnosis of Peutz Jeghers syndrome is based on clinical findings or on the presence of complications such as haemorrhage, invagination or bowel obstruction. In our case, the disease was complicated by gastrointestinal bleeding with hypovolemic shock. Endoscopic polypectomy using double-balloon enteroscopy can reduce emergency small bowel surgery. Peutz-Jeghers syndrome is a rare disease. Despite this, it is important for clinicians to know it and to take it into consideration in case of gastrointestinal bleeding.

PMID: 27217901 [PubMed - in process]

Ectopic adrenocorticotropic hormone syndrome caused by neuroendocrine tumors of the thymus: 30-year experience with 16 patients at a single institute in the People's Republic of China.

Onco Targets Ther. 2016;9:2193-201

Authors: Chen YY, Li SQ, Liu HS, Qin YZ, Li L, Huang C, Bi YL, Meng YX, He J, Zhou XY, Ma DJ

Abstract
BACKGROUND AND PURPOSE: Thymic neuroendocrine carcinomas (TNECs) are extremely uncommon. Certain cases of TNECs can produce the adrenocorticotropic hormone (ACTH) and cause ectopic ACTH syndrome (EAS). The current literature on this topic consists mainly of case reports, and therapeutic guidelines are lacking. The aim of this study was to discuss the diagnosis, surgical management, and prognosis of EAS caused by TNECs to improve clinical experience with this rare disease.
METHODS: From June 1984 to June 2014, at the Peking Union Medical College Hospital, the surgical interventions and follow-up outcomes of 16 consecutive patients (eight men and eight women) with EAS caused by TNECs were retrospectively analyzed.
RESULTS: The median age was 32.5 years (range: 13-47 years), and the median disease duration was 8.5 months (range: 1-150 months). All patients presented with clinical and biochemical evidence indicating a diagnosis of Cushing's syndrome. Contrast-enhanced thoracic computed tomography scans were critical to locating the ACTH-producing tumor and evaluating the feasibility of resection. All patients underwent surgery. One patient died of septicemia in the intensive care unit 2 weeks after surgery. No other morbidity or mortality occurred during the perioperative period. The median overall survival (OS) was 41 months (95% CI: 30.3-51.7 months), and the progression-free survival was 28 months (95% CI: 21.6-34.3 months). Both overall survival (P=0.002) and progression-free survival (P=0.030) improved significantly after complete resection.
CONCLUSION: TNEC is an extremely aggressive disease that should be considered when treating patients with Cushing's syndrome due to ectopic ACTH secretion. In particular, all suspected patients should undergo contrast-enhanced thoracic computed tomography scans to facilitate early diagnosis. The current first-line treatment is surgical resection, and complete resection is a favorable prognostic factor. However, additional patients and a longer follow-up will be needed to determine the variables that are predictive of survival and to improve patient prognosis.

PMID: 27217765 [PubMed]

Clear Cell Mypepithelial Carcinoma of the Base Tongue Managed by the Mandible Preserving Pull-Through Oropharyngectomy Approach.

Indian J Surg Oncol. 2015 Sep;6(3):263-6

Authors: Krishnamurthy A

Abstract
Myoepithelial carcinoma (MC) is rare disease that comprises of only about 2 % of all salivary gland carcinomas and MC that focally or predominantly displays clear cell-type tumor cells are considered as CCMC. We recently got to treat a rare case of a base tongue clear cell myoepithelial carcinoma. (CCMC) Our patient, to the best of our knowledge is the second case of base tongue CCMC and the first with metastatic involvement of the cervical lymph nodes. We successfully managed the tumor using the "mandible preserving pull-through oropharyngectomy approach" Knowledge of the different surgical approaches and techniques is thus vital for better oncologic, functional and aesthetic outcomes following surgery for tumors especially in challenging sub sites like the oropharynx.

PMID: 27217675 [PubMed]

[A Case of Inflammatory Myofibroblastic Tumor of Urinary Bladder].

Hinyokika Kiyo. 2016 Apr;62(4):201-4

Authors: Tanaka K, Ikeda A, Miyakawa T, Komine M, Tsutsumi M, Ishikawa S, Kawai K, Nishiyama H

Abstract
A 61-year-old man presenting with voiding pain was diagnosed with a bladder tumor by ultrasound in another hospital, and was subsequently referred to our hospital. Cystoscopy showed a nodular tumor and surrounding edematous mucosa in the right wall of the bladder. Initially, we suspected bladder invasion of gastrointestinal malignancy, but abdominal computed tomography, magnetic resonance imaging, and a series of tumor marker tests revealed no abonormalities. We performed transurethral resection of the bladder tumor under the clinical diagnosis of a submucosal tumor originating from the bladder wall. Histopathological examination revealed spindle cell proliferation, which was positively stained with anti-anaplastic lymphoma kinase (ALK) antibody. Based on the findings, the diagnosis of an inflammatory myofibroblastic tumor (IMT) was made. Therefore, we performed partial cystectomy to reduce the risk of local recurrence. The pathological diagnosis was IMT, and the surgical margins were negative. Bladder IMT is a rare disease, and surgical resection is the only recommended treatment. In the literature, if completely resected, the prognosis of patients with bladder IMT is excellent. Also, in the present case, no recurrence has been detected for over 6 months.

PMID: 27217015 [PubMed - in process]

Evidence of pathogenicity of a mutation in 3' untranslated region causing mild haemophilia A.

Haemophilia. 2016 May 24;

Authors: Pezeshkpoor B, Berkemeier AC, Czogalla KJ, Oldenburg J, El-Maarri O

Abstract
INTRODUCTION: Despite the high mutation detection rate, in a small group of haemophilia A patients, using current screening methods, no causal mutation in F8 can be detected. In such cases, the causal mutation might be in the non-coding sequences of F8.
AIM: Rarely, mutations in non-coding sequences reveal a pivotal role. Here, we analysed a mild haemophilia A patient harbouring a mutation in the 3' untranslated region (UTR) of F8 and elucidated the molecular mechanism leading to haemophilia phenotype.
METHODS: To find the causal mutation, the complete F8 genomic region was analysed by next generation sequencing. The effect of the identified alteration on F8 expression was evaluated in silico and analysed for the splicing effect at mRNA level. Moreover, in vitro studies using a luciferase reporter system were performed to functionally analyse the mutation.
RESULTS: We identified an alteration in the 3' UTR (c.*56G>T) as the only change in F8 gene. Pedigree analysis showed a segregation pattern for three affected members for the presumptive mutation. Moreover, the variant was predicted in silico to create a new donor splice site, which was also detected at mRNA level, resulting in a 159 bp deletion in 3' UTR of F8. Finally, the variant showed reduced expression of the gene reporter firefly luciferase in cell line expression analysis.
CONCLUSION: Our results advocate the patient specific c.*56G>T base change in the 3' UTR to be a disease-associated mutation leading to alternative splicing explaining the mild haemophilia A phenotype.

PMID: 27216882 [PubMed - as supplied by publisher]

Combined immunodeficiency in a patient with mosaic monosomy 21.

Immunol Res. 2016 May 24;

Authors: Rechavi E, Levy-Mendelovich S, Stauber T, Shamash J, Reinstein S, Vernitsky H, Adam D, Simon AJ, Lev A, Raas-Rothschild A, Somech R

Abstract
Monosomy 21 is an extremely rare genetic disorder presenting with a wide array of symptoms. Recurrent infections, some life threatening, have been reported in several monosomy 21 patients and attributed to an, as of yet, undefined immunodeficiency. Here we report on a 3-year-old boy with mosaic monosomy 21 who presented with clinical and laboratory evidence of immunodeficiency. Despite suffering from infections highly suggestive of a cell-mediated immune defect, the patient's T cells displayed normal counts, subsets and proliferation capability. T cell receptor repertoire was diverse, and de novo T cell production was intact. Consistent with earlier case reports, our patient displayed mildly low B cell counts with hypogammaglobulinemia. B cell subsets demonstrated mainly naïve and marginal zone B cells that have not undergone class switch. Subsequently, IgG, IgA and IgE levels were near absent, whereas IgM level was normal. De novo B cell production and B cell receptor diversity were normal. Together, these results are indicative of a defect in immunoglobulin class switching as the principal cause of immunodeficiency in monosomy 21. A better understanding of the immunodeficiency in this syndrome will enable targeted treatment and prevention of infections in order to prevent morbidity and mortality in these patients.

PMID: 27216863 [PubMed - as supplied by publisher]

Towards rational drug treatment of Lesch-Nyhan disease.

Mol Genet Metab. 2016 May 9;

Authors: Seifert R

Abstract
Lesch-Nyhan disease (LND) is a rare X-chromosomal purine metabolism disorder. LND is characterized by self-injurious behavior (SIB) for which there is no drug treatment. This commentary places a recent clinical study by Khasnavis et al. (Mol. Genetic. Metab., in press) on drug treatment of SIB into a broader context. Although the study by Khasnavis et al. was no break-through in terms of "positive" results, nonetheless, it presents an excellent model of how clinical studies in general and clinical studies on rare diseases should be conducted.

PMID: 27216368 [PubMed - as supplied by publisher]

Takayasu arteritis presenting with malignant hypertension; a rare manifestation of a rare disease: a case report and review of the literature.

Trop Doct. 2016 May 22;

Authors: Patel B, Tiwari A, Dubey SR, Bhatt GC, Tiwari P, Bhan BD

Abstract
Takayasu arteritis (TA) is a chronic inflammatory and obliterative disease of large vessels, which mainly affects the aorta and its major branches. TA can lead to renal failure and renovascular hypertension in 60% of patients; it is rare in children aged <10 years and, more rarely, it presents with malignant hypertension in the paediatric age group. Here we present a case of 9-year-old boy with TA who presented with malignant hypertension and required surgical intervention to control the blood pressure. Subsequently, his medications were titrated using 24 h ambulatory blood pressure monitoring (ABPM) and is doing well on follow-up.

PMID: 27216226 [PubMed - as supplied by publisher]

Contemporary management of fibrolamellar hepatocellular carcinoma: diagnosis, treatment, outcome, prognostic factors, and recent developments.

World J Surg Oncol. 2016;14(1):151

Authors: Kassahun WT

Abstract
Fibrolamellar hepatocellular carcinoma (FL-HCC) is a malignant liver tumor which is thought to be a variant of conventional hepatocellular carcinoma (HCC). It accounts for a small proportion of HCC cases and occurs in a distinctly different group of patients which are young and usually not in the setting of chronic liver disease. The diagnosis of FL-HCC requires the integration of clinical information, imaging studies, and histology. In terms of the treatment options, the only potentially curative treatment option for patients who have resectable disease is surgery either liver resection (LR) or liver transplantation (LT). When performed in a context of aggressive therapy, long-term outcomes after surgery, particularly liver resection for FL-HCC, were favorable. The clinical outcome of patients with unresectable disease is suboptimal with median survival of less than 12 months. The aim of this review is to update the available evidence on diagnosis, treatment options, outcome predictors, and recent developments of patients with this rare disease and to provide a summarized overview of the available literature.

PMID: 27215576 [PubMed - in process]

Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.

Brain. 2016 Jan;139(Pt 1):31-8

Authors: Ortigoza-Escobar JD, Molero-Luis M, Arias A, Oyarzabal A, Darín N, Serrano M, Garcia-Cazorla A, Tondo M, Hernández M, Garcia-Villoria J, Casado M, Gort L, Mayr JA, Rodríguez-Pombo P, Ribes A, Artuch R, Pérez-Dueñas B

Abstract
Thiamine transporter-2 deficiency is caused by mutations in the SLC19A3 gene. As opposed to other causes of Leigh syndrome, early administration of thiamine and biotin has a dramatic and immediate clinical effect. New biochemical markers are needed to aid in early diagnosis and timely therapeutic intervention. Thiamine derivatives were analysed by high performance liquid chromatography in 106 whole blood and 38 cerebrospinal fluid samples from paediatric controls, 16 cerebrospinal fluid samples from patients with Leigh syndrome, six of whom harboured mutations in the SLC19A3 gene, and 49 patients with other neurological disorders. Free-thiamine was remarkably reduced in the cerebrospinal fluid of five SLC19A3 patients before treatment. In contrast, free-thiamine was slightly decreased in 15.2% of patients with other neurological conditions, and above the reference range in one SLC19A3 patient on thiamine supplementation. We also observed a severe deficiency of free-thiamine and low levels of thiamine diphosphate in fibroblasts from SLC19A3 patients. Surprisingly, pyruvate dehydrogenase activity and mitochondrial substrate oxidation rates were within the control range. Thiamine derivatives normalized after the addition of thiamine to the culture medium. In conclusion, we found a profound deficiency of free-thiamine in the CSF and fibroblasts of patients with thiamine transporter-2 deficiency. Thiamine supplementation led to clinical improvement in patients early treated and restored thiamine values in fibroblasts and cerebrospinal fluid.

PMID: 26657515 [PubMed - indexed for MEDLINE]

Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.

Brain. 2016 Jan;139(Pt 1):62-72

Authors: Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C

Abstract
Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger 2 (MORC2). Whole-exome sequencing in a family with autosomal dominant segregation identified the novel MORC2 p.R190W change in four patients. Further mutational screening in our axonal Charcot-Marie-Tooth disease clinical series detected two additional sporadic cases, one patient who also carried the same MORC2 p.R190W mutation and another patient that harboured a MORC2 p.S25L mutation. Genetic and in silico studies strongly supported the pathogenicity of these sequence variants. The phenotype was variable and included patients with congenital or infantile onset, as well as others whose symptoms started in the second decade. The patients with early onset developed a spinal muscular atrophy-like picture, whereas in the later onset cases, the initial symptoms were cramps, distal weakness and sensory impairment. Weakness and atrophy progressed in a random and asymmetric fashion and involved limb girdle muscles, leading to a severe incapacity in adulthood. Sensory loss was always prominent and proportional to disease severity. Electrophysiological studies were consistent with an asymmetric axonal motor and sensory neuropathy, while fasciculations and myokymia were recorded rather frequently by needle electromyography. Sural nerve biopsy revealed pronounced multifocal depletion of myelinated fibres with some regenerative clusters and occasional small onion bulbs. Morc2 is expressed in both axons and Schwann cells of mouse peripheral nerve. Different roles in biological processes have been described for MORC2. As the silencing of Charcot-Marie-Tooth disease genes have been associated with DNA damage response, it is tempting to speculate that a deregulation of this pathway may be linked to the axonal degeneration observed in MORC2 neuropathy, thus adding a new pathogenic mechanism to the long list of causes of Charcot-Marie-Tooth disease.

PMID: 26497905 [PubMed - indexed for MEDLINE]

Distinct cardiac phenotype between two homozygotes born in a village with accumulation of a genetic deficiency of adipose triglyceride lipase.

Int J Cardiol. 2015 Aug 1;192:30-2

Authors: Higashi M, Hirano K, Kobayashi K, Ikeda Y, Issiki A, Otsuka T, Suzuki A, Yamaguchi S, Zaima N, Hamada S, Hanada H, Suzuki C, Nakamura H, Nagasaka H, Miyata T, Miyamoto Y, Kobayashi K, Naito H, Toda T

PMID: 25985012 [PubMed - indexed for MEDLINE]

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Update on the safety of second generation antipsychotics in youths: a call for collaboration among paediatricians and child psychiatrists.

Ital J Pediatr. 2016;42(1):51

Authors: Pisano S, Catone G, Veltri S, Lanzara V, Pozzi M, Clementi E, Iuliano R, Riccio MP, Radice S, Molteni M, Capuano A, Gritti A, Coppola G, Milone A, Bravaccio C, Masi G

Abstract
During the past decade, a substantial increase in the use of second generation antipsychotics (SGAs) has occurred for a number of juvenile psychiatric disorders, often as off-label prescriptions. Although they were thought to be safer than older, first generation antipsychotics, mainly due to a lower risk of neurological adverse reactions, recent studies have raised significant concerns regarding their safety regarding metabolic, endocrinological and cardiovascular side effects. Aim of this paper is to update with a narrative review, the latest findings on safety of SGAs in youths. Results suggest that different SGAs may present different safety profiles. Metabolic adverse events are the most frequent and troublesome, with increasing evidences of heightened risk for type II diabetes mellitus. Results are discussed with specific emphasis on possible strategies of an active monitoring, which could enable both paediatricians and child psychiatrists to a possible prevention, early detection, and a timely management of such effects.

PMID: 27209326 [PubMed - as supplied by publisher]

Mixed Phenotype Acute Leukemia (MPAL) Exhibits Frequent Mutations in DNMT3A and Activated Signaling Genes.

Exp Hematol. 2016 May 18;

Authors: Eckstein OS, Wang L, Punia JN, Kornblau SM, Andreeff M, Wheeler DA, Goodell MA, Rau RE

Abstract
Mixed phenotype acute leukemia (MPAL) is a heterogeneous group of poor-prognosis leukemias with immunophenotypic features of at least two cell lineages. The full spectrum of genetic mutations in this rare disease has not been elucidated, limiting our understanding of disease pathogenesis and our ability to devise targeted therapeutic strategies. We sought to define the mutational landscape of MPAL by performing whole exome sequencing on samples from 23 adult and pediatric MPAL patients. We identified frequent mutations of epigenetic modifiers, most notably mutations of DNMT3A in 33% of adult MPAL patients. Mutations of activated signaling pathways, tumor suppressors and transcription factors were also frequent. Importantly, many of the identified mutations are potentially therapeutically targetable with agents currently available or in various stages of clinical development. Therefore, the mutational spectrum we identified provides potential biological insights and is likely to have clinical relevance for patients with this poor-prognosis disease.

PMID: 27208809 [PubMed - as supplied by publisher]

Childhood epidermolysis bullosa acquisita during squaric acid dibutylester (SADBE) immunotherapy for alopecia areata.

Br J Dermatol. 2016 May 21;

Authors: Guerra L, Pacifico V, Calabresi V, De Luca N, Castiglia D, Angelo C, Zambruno G, Di Zenzo G

Abstract
Epidermolysis bullosa acquisita (EBA) is a rare acquired subepidermal blistering disease associated with autoantibodies against type VII collagen. Although EBA manifests more frequently in adults, it can occur in childhood. We describe a 6-year-old male who developed the inflammatory variant of EBA shortly after the initiation of immunotherapy with squaric acid dibutylester (SADBE) for scalp alopecia areata (AA). The disease rapidly regressed following SADBE discontinuation and starting of a combined steroid and dapsone therapy and never recurred after treatment tapering and withdrawal. The association of EBA with other autoimmune diseases is common, but EBA occurring during AA has not been previously described. The development of EBA during SADBE treatment is also noticeable: the clinical history and therapeutic response in our patient point to a possible role of SADBE in EBA onset. This article is protected by copyright. All rights reserved.

PMID: 27208509 [PubMed - as supplied by publisher]