Adenoid cystic carcinoma of the palpebral lobe of the lacrimal gland - case report and literature review.

Epithelial tumors of the lacrimal gland are rare and usually develop in the orbital lobe. We report the exceedingly rare occurrence of a primary adenoid cystic carcinoma in the palpebral lobe of the lacrimal gland. A 26-year-old female was referred for evaluation of a gradually enlarging mass in the lateral upper eyelid, previously diagnosed as a chalazion. Computed tomography revealed a heterogeneous round lesion anterior to the orbital rim. Excisional biopsy was compatible with an adenoid cystic carcinoma. After excluding distant metastasis, and as the patient refused adjuvant radiotherapy, a second surgical procedure, with wide local excision, was indicated. Follow-up showed no recurrence. This case highlights the importance of performing a thorough clinical examination when diagnosing any lateral upper eyelid mass. A high index of suspicion for malignant tumors of the lacrimal gland should always be maintained, and a complete excision with histological analysis should be preferred whenever possible.

Lentigo Maligna - Not Always a Face and Neck Disease of the Elderly.

INTRODUCTION: Lentigo maligna (LM) is a rare form of in situ melanoma, frequently seen as a large patch in elderly patients. The aim of this study was to assess clinical and dermoscopic features of LM. MATERIAL AND METHODS: A retrospective study of LM patients presenting to our center between July 2007 and July 2017 was performed. Demographic data, anatomical location, laterality, diameter, Clark level, Breslow stage, "ABCD" signs and dermoscopic features were registered. Facial versus extrafacial LM were compared. RESULTS: We found 21 LM, of which 12 had an extrafacial location and 9 a facial location. Half of the extrafacial lesions were located on an upper limb. The median age at diagnosis was 63 years (ranging from 38 to 84 years). Most LM cases were female (16/21) with phototype II (13/21). More than half of the patients (11/21) had a history of a skin neoplasm or actinic keratosis. The median diameter found was 6 mm (interquartile range = 4.5 mm), ranging from 1 to 15 mm. Five lesions were invasive (median Breslow depth of 0.2 mm), and 4 of them were extrafacial. DISCUSSION: In this study LM was more frequently found in an extrafacial location and as a small patch with a 6-mm diameter medium. The epidemiology of LM/LM melanoma might be changing. Full body examination and dermoscopy are of the utmost importance for the diagnosis. Dermatologists should be aware and search for small lesions outside the face and neck, particularly in middle-aged female patients with photo-damaged skin.

Are General Physicians Prepared for Struggling Skin Cancer?-Cross-Sectional Study.

The aim of this study is to evaluate the role of general practitioners (GP) in selecting higher risk population for skin cancer screening. GP's training was organized to examine a specific high risk population consisting mainly of fisherman and farmers in a city of North of Portugal. Health care professionals of local health units training was performed by two dermatologists 2 months before the screening. During 8 weeks GPs selected patients with skin cancer suspicious lesions and/or risk factors consecutively from their regular consultation. These selected patients were referred to a dermatologist evaluation. Six dermatologists using manual dermoscopy examined the previously selected patients. One hundred eight patients have been screened, 35 % of which were males and 65 % females, with a mean age of 54 years. Full skin evaluation by dermatologists revealed 31 % of actinic keratosis, 5 % of leucoplasia, 7 % of basal cell carcinoma, 8 % of squamous cell carcinoma, and 1 % of melanoma. Cohen's kappa coefficient between dermatologist and GPs was 0.18. Selective screening with collaboration of GPs allowed the detection of more cases of skin cancer than the nonselective screenings in the literature. Although the diagnostic agreement between GPs and dermatologists was not good, our results indicate that active collaboration of dermatologists with primary health care units for selective skin cancer screening, including post graduated courses on their own health units, can be a way of optimizing early detection of cutaneous pre malignant and malignant lesions.

Intraconal gauze mass: An unusual complication of orbital fracture repair - a case report.

Gossypiboma and textiloma are terms used to describe tumor-like masses caused by retained gauze or surgical sponges after any operation. It is a rare surgical complication, usually difficult to diagnose due to its variable clinical presentation and nonstandard radiological appearance. We describe here a rare case of orbital gossypiboma in a child after surgical correction of an orbital blowout fracture.

Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.

PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I. The LG volumes were measured on computed tomography (CT) scans in the BPES sample and in a group of age-matched subjects imaged for nonorbital diseases. Sixteen patients were screened for mutations in the FOXL2 gene. MAIN OUTCOME MEASURES: Lacrimal meniscus height, Schirmer test I, presence of superficial punctate keratopathy (SPK), LG volume, and molecular analysis of the FOXL2 gene. RESULTS: Absence of LG was detected bilaterally in 9 patients (42.8%) and unilaterally in 2 patients (9.5%). When considering only patients with measurable LG, the median volume was 0.22 cm3 in the right eye (range, 0.06-0.36 cm3) and 0.24 cm3 in the left eye (range, 0.08-0.34 cm3). These values were significantly lower than those for the age-matched controls (median = 0.54 right eye and 0.53 left eye; P < 0.05). There was a significant association between deficiency of tear production and LG volume reduction and agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations, 4 of them novel ones. A significant reduction of LG size or agenesis was associated with mutations affecting protein size (due to underlying changes in the stop codon location) or the DNA-binding forkhead domain (Fisher exact test, P = 0.021). In 3 probands, the underlying genetic defect was not found. CONCLUSIONS: This is the first study reporting LG volumes in BPES, describing a significant number of patients with LG agenesis. The association between alacrima and BPES is not incidental, and a thorough evaluation of tear production is recommended especially if ptosis surgery is planned.

Tarsal Glandular Hyperplasia in Pachydermoperiostosis and Implications for Ptosis Correction.

Pachydermoperiostosis is a rare genetic disease that causes major bone and skin changes. Severe ptosis is a prominent finding in this peculiar condition. We report here 2 patients with typical features of pachydermoperiostosis. Their tarsal plates were enlarged and infiltrated by sebaceous gland tissue. One patient also displayed diffuse intratarsal lacrimal gland hyperplasia. As far as we know, this is the first report of ectopic lacrimal tissue in pachydermoperiostosis. Tarsal and skin morphologic changes should be addressed during ptosis correction in these patients.

Graves Lower Eyelid Retraction.

PURPOSE: Graves lower eyelid retraction (GLLR) is a common and controversial sign of Graves orbitopathy. The authors reviewed the mechanisms and surgical techniques currently used to correct this Graves orbitopathy-related eyelid malposition. METHODS: A literature search was performed on the MEDLINE database using the keywords "lower eyelid retraction," "Graves orbitopathy," "thyroid ophthalmopathy," "thyroid eye disease," "spacers," and "eyelid surgery." Only articles in English were included. The level of evidence of publications regarding surgical correction of GLLR was evaluated and graded from I to IV, using a rating system adapted from a validated scientific evidence classification method. RESULTS: The mechanisms responsible for GLLR are not fully understood and no subtypes of GLLR have been distinguished. The surgical literature of GLLR encompasses mainly descriptions of surgical techniques without objective measurements of the results, and uncontrolled studies. Only 1 randomized controlled trial was identified. To lengthen the lower retractors, a large variety of different materials have been used as spacers. CONCLUSIONS: The scientific literature on GLLR is vast, however controlled and randomized studies comparing different surgical techniques are lacking. At the present moment it is not clear if bioengineered materials are superior to conventional autogeneous tissue as lower eyelid spacers. The effects of GLLR on lower eyelid movements and contour have not been studied.

Giant subungual glomus tumor: clinical, dermoscopy, imagiologic and surgery details.

Glomus tumor is a rare benign vascular hamartoma derived from the modified smooth muscle cells of the glomus body. Paroxysmal pain is the leading symptom. A 78-year-old woman presented at our clinic with a 50-year history of a slow growing painful purple blue tender nodule under the right fourth finger nail. Dermoscopy and magnetic ressonance confirmed the presence of a large subungual tumor and total surgical excision was performed after partial nail plate avulsion. Histologic examination confirmed a glomus tumor. After 1 year of follow-up, the nail grew with normal shape and neither complications nor recurrence were observed.

Successful management of bilateral orbital metastases from invasive lobular breast cancer with abemaciclib and letrozole: a case report and literature review.

Breast cancer is a significant global health concern, contributing to substantial morbidity and mortality among women. Hormone receptor-positive (HR+)/HER2-negative (HER2-) breast cancer constitutes a considerable proportion of cases, and significant advancements have been made in its management. CDK4/6 inhibitors (CDK4/6is) are a new targeted therapy that has demonstrated efficacy in adjuvant, advanced and metastatic settings. The propensity of lobular breast carcinomas for estrogen-rich sites, such as periocular tissues and orbital fat, may explain their tendency for orbital metastases. Current treatment strategies for these cases are predominantly palliative, and the prognosis remains poor. This article presents a unique case of a 51-year-old female with progressive right periorbital edema, pain, and limited ocular motility. An imaging work-up showed bilateral intra and extraconal orbital infiltration, which was biopsied. The histopathologic analysis disclosed mild chronic inflammatory infiltrate with thickened fibrous tissue and moderately differentiated lobular carcinoma cells, positive for GATA3 and CK7 markers, with 100% of tumor nuclei expressing estrogen receptors (ER+). A systemic evaluation showed a multicentric nodular formation in both breasts. Further diagnostic assessments unveiled an HR+/HER2- bilateral lobular breast carcinoma with synchronous bilateral orbital metastases. Systemic treatment was initiated with abemaciclib 150mg twice daily and letrozole 2.5mg once a day. However, this regimen was interrupted due to toxicity. After two weeks, treatment was resumed with a reduced abemaciclib dose (100mg twice daily) alongside letrozole, with a reasonable tolerance. Nearly two years after the initial diagnosis of inoperable metastatic cancer, the patient remains on the same systemic treatment regimen with no signs of invasive disease. This case report is the first of a patient presenting with bilateral orbital metastases from bilateral lobular breast cancer, showing an impressive and sustained response to a first-line treatment regimen combining abemaciclib and letrozole. A literature review on bilateral orbital metastases from breast cancer is also presented.

Surgical management of glaucoma secondary to indirect carotid-cavernous fistula: A case report.

INTRODUCTION: Indirect carotid-cavernous fistula (CCF) can lead to secondary glaucoma, posing significant treatment challenges. This paper discusses a case where standard embolization failed, and an Ahmed FP7 valved glaucoma tube shunt was crucial for managing the increased intraocular pressure (IOP), highlighting the necessity for individualized surgical approaches. CASE PRESENTATION: A 48-year-old female presented in the emergency department with conjunctival hyperemia, proptosis and elevated IOP; initial imaging findings were indicative of orbital inflammatory disease. Further evaluation with cerebral CT angiography revealed a possible CCF. Subsequent angiography confirmed an indirect CCF type D, leading to the patient undergoing endovascular embolization. Final monitoring revealed a subtotal occlusion of the fistula. Although there was some improvement post-procedure, IOP remained elevated despite medication, and subsequent attempts of embolization were unsuccessful. Surgical intervention with a tube shunt was performed, allowing IOP to decreased to a normal range. Optic nerve head optical coherence tomography, standard automated perimetry, and best-corrected visual acuity remained stable during the 33-month follow-up. DISCUSSION: In managing glaucoma linked to CCF, a multidisciplinary approach is critical. Conservative methods are often adequate, with spontaneous CCF closure observed in a significant percentage. Endovascular embolization is reserved for refractory cases, with embolization showing a higher rate of IOP normalization compared to medication alone. Yet, when fistula closure is challenging or contraindicated, individualized management strategies like glaucoma surgery may be employed. CONCLUSIONS: When fistula closure is not achievable, the Ahmed FP7 valved tube shunt can successfully regulate IOP with minimal complications, providing an effective alternative for refractory cases.

Horizontal Gaze Palsy and Progressive Scoliosis in Dizygotic Twins.

Horizontal gaze palsy and progressive scoliosis (HGPPS) is a rare autosomal recessive disorder caused by mutations in the ROBO3 gene. Clinical presentation consists of impairment of conjugate horizontal eye movements together with a progressive scoliosis beginning in childhood. We report dizygotic twins with HGPPS that had absence of conjugate horizontal eye movements combined with divergent strabismus and synergistic divergence. One of them also had a congenital palpebral ptosis and vertical strabismus of the right eye. Onset of scoliosis occurred in childhood with rapid progression in the second decade of life. Brain imaging showed characteristic features of the disease such as hypoplasia of the pons and a midline cleft of the brainstem with a butterfly-like bifid appearance. Genetic analysis revealed a pathogenic homozygous mutation on the ROBO3 gene. These siblings and a previous report of two other individuals with the same disorder from the same small geographical region with less than 38000 inhabitants, likely represent a founder effect.

[Atopic dermatitis, innate immunity, and infection]. / [In Process Citation]

The prevalence of atopic dermatitis is increasing in western societies and this disease has a significant effect on the quality of life of patients and their families. The pathophysiology is complex, but there are recent insights on innate and adaptive immunity dysfunction in this condition that increases the predisposition to colonization/infection with characteristic types of microorganisms. We provide an up-to-date review of the pathophysiology of atopic dermatitis, highlighting the clinical implications of skin barrier dysfunction and immunological deregulation. We suggest a useful approach for handling exacerbations and infectious events.

Vismodegib for treatment of periocular basal cell carcinoma - 6-year experience from a tertiary cancer center.

BACKGROUND: The treatment of advanced periocular basal cell carcinomas becomes a challenge as surgery may involve highly mutilating procedures. Vismodegib is the first selective hedgehog inhibitor approved for the treatment of locally advanced tumors or metastatic disease. OBJECTIVE: Analyze the results of treatment with vismodegib for advanced periocular basal cell carcinomas in a real-life setting of a reference center between 2014 and 2020. METHODS: Retrospective longitudinal study. The patient's demographic profile, comorbidities, tumor characteristics, and treatment outcomes were analyzed. RESULTS: A total of 13 patients were included. Median follow-up and treatment duration were 15.9 and 10.5 months, respectively. Objective clinical response rate was 76.9%: 30.8% had a complete response and 46.2% a partial response. The median duration of response was 13 months. Progressive disease was observed in 38.5% of cases, with a median of 19 months after the beginning of treatment. Eighty-four percent of the patients had at least one adverse event, and 61.54% needed to interrupt treatment temporarily or permanently to increase tolerability. STUDY LIMITATIONS: Being a retrospective study in a real-life setting, the evaluation of objective clinical response was subjective to physician appreciation. CONCLUSION: Vismodegib is a safe and effective treatment for locally advanced basal cell carcinoma. To prevent recurrences, the drug should be used continually when tolerated. The role of neoadjuvant vismodegib before surgery is being investigated and might add an important step in searching for a definitive treatment for these cases.

Oral Iron Supplementation in Pregnancy: Current Recommendations and Evidence-Based Medicine.

OBJECTIVE: To review the evidence about universal iron supplementation in pregnancy to prevent maternal anemia. METHODS: Bibliographic research of randomized and controlled clinical trials, meta-analyses, systematic reviews, and clinical guidelines, published between August 2009 and August 2019, using the MeSH terms: iron; therapeutic use; pregnancy; anemia, prevention and control. RESULTS: We included six clinical guidelines, three meta-analyses and one randomized controlled clinical trial. DISCUSSION: Most articles point to the improvement of hematological parameters and reduction of maternal anemia risk, with supplementary iron. However, they do not correlate this improvement in pregnant women without previous anemia with the eventual improvement of clinical parameters. CONCLUSION: Universal iron supplementation in pregnancy is controversial, so we attribute a SORT C recommendation strength.

OBJETIVO: Rever a evidência sobre a necessidade de suplementação universal de ferro na gravidez para prevenção de anemia materna. MéTODOS: Pesquisa bibliográfica de ensaios clínicos aleatorizados e controlados, metanálises, revisões sistemáticas e normas de orientação clínica, publicados entre agosto de 2009 e agosto de 2019, utilizando os termos MeSH: iron, terapêuticas use; pregnancy; anemia, preventivos and control. RESULTADOS: Incluímos seis normas de orientação clínica, três metanálises e um ensaio clínico randomizado e controlado. DISCUSSãO: A maioria dos artigos aponta para a melhoria dos parâmetros hematológicos e redução do risco de anemia materna por meio da suplementação com ferro. Todavia, eles não correlacionam a melhoria destes parâmetros em grávidas sem anemia prévia com a eventual melhoria de parâmetros clínicos. CONCLUSõES: A suplementação universal com ferro na gravidez é controversa, pelo que atribuímos uma força de recomendação SORT C.

Leg ulcer and thigh telangiectasia associated with natural killer cell CD56(-) large granular lymphocyte leukemia in a patient with pseudo-Felty syndrome.

Clonal disorders of large granular lymphocytes (LGL) represent a rare spectrum of biologically distinct lymphoproliferative diseases originating either from mature T cells or natural killer cells. Both subtypes can manifest as indolent or aggressive disorders. We report a 77-year-old woman with rheumatoid arthritis, splenomegaly, and neutropenia who developed a painful leg ulcer refractory to treatment and thigh telangiectatic lesions. Because of the association of rheumatoid arthritis, splenomegaly, and nonspecific neutropenia, the diagnosis of Felty syndrome was initially made. Further investigation allowed the diagnosis of a CD56(-) natural killer-cell LGL leukemia and documented skin infiltration by natural killer cells. Cutaneous manifestations of LGL leukemia have been rarely reported. This report of pseudo-Felty syndrome with CD56(-) LGL leukemia, presenting with a leg ulcer and telangiectasia, enhances the role of dermatology in the diagnosis of hematologic neoplasia.

Nail matrix melanoma in situ: conservative surgical management.

BACKGROUND: Nail unit melanoma (NUM) is a rare variant of acral lentiginous melanoma. The differential diagnosis is wide but an acquired brown streak in the nail of a fair-skinned person must be considered a potential melanoma. Dermatoscopy helps clinicians to more accurately decide if a nail apparatus biopsy is necessary. METHODS: We report the case of a 61-year-old Caucasian woman with melanonychia occupying the central portion of the right thumbnail plate with 1 year of evolution. Dermatoscopy showed a brown pigmentation overlaid by longitudinal irregular lines. An excisional biopsy was performed, and pathological examination revealed melanoma in situ. For safety reasons, the nail unit was totally removed down to the phalangeal bone 3 weeks later, and a full-thickness skin graft taken from the arm was used for reconstruction. CONCLUSION: NUMs pose a difficult treatment challenge. Wide excision with phalanx amputation is not satisfactory for patients with in situ and early invasive melanoma. Full-thickness skin grafting after total nail unit excision is a simple procedure providing a good functional and cosmetic outcome.

Docetaxel-induced acral erythema and nail changes distributed to photoexposed areas.

Docetaxel is a semisynthetic taxane used in the treatment of several malignancies. A 60-year-old male patient suffering from a non-small cell lung cancer with bone metastasis was under treatment with docetaxel and developed acral erythema involving photoexposed areas. Onycholysis and melanonychia were also observed. Drug-induced acral erythema usually involves the palms and soles, but it may occur in more atypical areas such as the backs of the hands and feet and also the face, as occurred in this patient. The nail changes are usually observed after several cycles of docetaxel, but tend to resolve gradually over several weeks despite continued treatment. Early recognition of skin and nail changes in the setting of docetaxel treatment, especially with an unusual presentation, is of paramount importance not only for patient reassurance, but also to avoid unnecessary withdrawal of drug treatment.

Cutaneous mastocytosis: Two pediatric cases treated with topical pimecrolimus.

Cutaneous mastocytosis is characterized by increased numbers of skin mast cells that release mediators causing pruritus, urticaria, and flushing. Most pediatric mastocytosis patients exhibit the pattern of urticaria pigmentosa, which typically appears during the first two years of life and resolves spontaneously in late adolescence. However, while the disease is active, patients are frequently symptomatic and uncomfortable, which justifies symptomatic treatment. We report 2 patients, a 14-month-old girl and a 26-month-old boy, with localized cutaneous erythematous lesions with a positive Darier sign. In each, a punch biopsy confirmed the diagnosis of mastocytosis. Treatment was instituted with pimecrolimus cream twice a day and oral antihistamine. An almost complete response was achieved after 4 months of therapy in both patients, with no clinical evidence of recurrence after 4 years and 2 years of follow-up, respectively. In children, the treatment of mastocytosis is directed primarily to avoiding potential mast cell degranulating agents and alleviating symptoms. Topical calcineurin inhibitors act by inhibiting T-cell activation and cytokine release; they may suppress mast cell- mediated reactions by reducing their degranulation. These two cases suggest that in localized cutaneous mastocytosis they are a safe and efficacious alternative to topical steroid therapy.