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Background: The B-Raf proto-oncogene (BRAFV600E) gene mutation has been identified in a variety of malignancies, but no evidence of the efficacy of vemurafenib treatment in BRAFV600E mutant breast cancer (BC) has been reported. Case Presentation: We reported a 60-year-old woman with confirmed triple-negative BC with BRAFV600E mutation. Progression-free survival (PFS) for first-line chemotherapy was 7 months. The patient received vemurafenib and albumin-bound paclitaxel as second-line therapy, exhibiting regression of some pulmonary metastatic lesions with concomitant progression of other lesions, and achieved 4.4 months of PFS. Genetic testing of the progressed pulmonary lesion revealed the BRAFV600E mutation, and acquired new mutations and AR amplification. The patient ultimately died of multiple organ failure and achieved 12 months of overall survival. Conclusions: The BRAFV600E mutation may be a potential prognostic factor and therapeutic target for BC.

Introduction: A wide spectrum of cardiovascular (CV) toxicity is associated with anticancer treatment, and nearly all chemotherapeutic agents can elicit CV toxicity. Inhibitors of cyclin-dependent kinases 4/6 (CDK4/6Is) have become standard of care in the treatment of hormone receptor-positive, human epidermal growth factor receptor 2-negative metastatic breast cancer (MBC). CV side effects are uncommon with CDK4/6Is and only include QT prolongation, with a low incidence rate. Case Presentation: This paper describes 2 cases of new-onset second-degree type 2 atrioventricular (AV) blocks requiring permanent cardiac pacing involving 2 women with MBC receiving ribociclib or abemaciclib. Both our patients had no known history or risk factors of cardiac disease and a normal 12-lead resting electrocardiogram (ECG) when diagnosed with breast adenocarcinoma. Both patients have been subjected to surveillance for cardiotoxicity with serial ECG and echocardiography. No left ventricular dysfunction or arrhythmia was found during the follow-up, and cardiac biomarkers were normal. Conclusion: To our knowledge, these are the first cases reported in the literature of new-onset advanced AV blocks in patients under treatment with CDK4/6Is, suggesting the clinical relevance of a more frequent ECG monitoring, besides the QT interval, in these patients.

Mevalonate kinase deficiency (MKD) is a periodic fever syndrome. Nonsteroidal anti-inflammatory drugs, corticosteroids, and anakinra are the most common treatments. However, colchicine is considered insufficient in disease control. In this case report, we present an 8-month-old infant with an atypical presentation of MKD. She had recurrent fever episodes, diarrhea, and lethargy. Elevated mevalonic acid was not detected in the urine. However, the genetic investigation showed a novel pathogenic heterozygous c.925G>C (p.Gly309Arg) variant and a heterozygous c.1129G>A (p.Val377Ile) mutation in the MVK gene. The patient was treated with colchicine for 8 months. During treatment, no further fever episode had been observed. It should be kept in mind that mevalonic acid excretion may not be present in the urine with mild MKD. Colchicine may be a reasonable option in mild MKD patients for a longer duration of treatment due to favorable adverse event profiles.

Okur-Chung neurodevelopmental syndrome is a rare autosomal dominant disorder caused by pathogenic variants in CSNK2A1, which encodes the alpha 1 catalytic subunit of ­casein kinase II. This syndrome is characterized by intellectual disability, developmental delay, and multisystemic ­abnormalities including those of the brain, extremities, and skin as well as cardiovascular, gastrointestinal, and immune systems. In this study, we describe a 5-year-old boy with a de novo novel nonsense variant in CSNK2A1, NM_001895.3:c.319C>T (p.Arg107*). He showed bilateral persistent hyperplastic primary vitreous with microphthalmia, lens dysplasia, and coloboma. Ocular manifestations are very rare in this syndrome, and this study expands the spectrum of the clinical presentations of this syndrome.

Introduction: Acrodermatitis continua of Hallopeau (ACH) is a rare, chronic, and recurrent form of pustular psoriasis (PP) localized to one or more digits. Due to the rarity of ACH, no clear treatment guidelines are currently available, making the therapeutic approach more complex. Case Presentation: We report the first case of a young woman with ACH who was successfully treated with certolizumab pegol (CZP). Discussion/Conclusion: PP and ACH are difficult to treat, and biologics may be an option more manageable than cyclosporine. CZP is the safest biologic therapy during pregnancy, so there is low risk in prescribing it in women with childbearing potential. However, continuing biological therapy during pregnancy always involves an assessment of the clinical benefits, which must outweigh the risks.

Eccrine porocarcinomas (EPCs) are rare tumours, albeit the most common malignant adnexal tumours of the skin. They can present with very heterogeneous clinical and dermoscopic features, rendering diagnosis limited to histopathological examination alone. We share 2 cases of EPCs, one of which arose in a patient with a prior diagnosis of cutaneous squamous cell carcinoma (SCC) and another whose EPC was likely a malignant transformation of an existing poroma. An occurrence of porocarcinoma after the diagnosis of SCC may suggest the possibility of unknown risk factors for both. Positivity to androgen, oestrogen, and epidermal growth factor receptors was seen in a proportion of porocarcinomas, and this may prompt further research on combination therapy between conventional treatment modalities with hormone receptor antagonists. Malignant change of a poroma may be a more common phenomenon than we would expect based on the current literature.

Alopecia areata (AA), an autoimmune disease with a relapsing-remitting course, represents the second cause of non­scarring alopecia worldwide and is associated with several comorbidities, notably atopic dermatitis (AD). In particular, AD is related to its more severe forms alopecia totalis (AT) and alopecia universalis (AU) [Nat Rev Dis Primers. 2017;3:17011]. Considering that AA has been classified as T helper 1-driven disease, whereas AD is the prototypical T helper 2 (Th2)-driven skin disorder, recent studies suggest that these forms may underlie a different chemokine expression resulting in a Th2 skewing as a key pathomechanism that could explain this association [JAMA Dermatol. 2015 May;151(5):522–8]. Several reports showed that dupilumab, a fully human monoclonal antibody targeting the interleukin 4α receptor and thus downregulating Th2 response, led to an improvement of AA associated with AD; most of these patients were females with AT or AU, early-onset AD, and atopic comorbidities [Exp Dermatol. 2020 Aug;29(8):726–32]. We report here a case to further support this hypothesis.

Background: Much remains unknown about the transmission of the SARS-CoV-2 virus. Pregnant women are considered part of the risk population, and vertical transmission of other coronaviruses has been suggested; however, this type of transmission in SARS-CoV-2 is believed to be unlikely. Case Report: A newborn delivered in term via cesarean section to an asymptomatic but COVID-19-positive 35-year-old woman started with respiratory distress in the first 30 min of life. A chest radiograph revealed pneumothorax and ground glass opacities. Ventilatory support with continuous positive airway pressure was needed. Given the respiratory failure and the positive test from the mother, the patient was sampled for SARS-CoV-2 (RT-PCR) at minute 30 of life, with a positive result reported at 36 h of life. No complications had been present during pregnancy, and cardiac screening and blood cultures revealed no other etiologies. Conclusion: Vertical transmission was highly likely in this case. Clinicians should be alert and report similar cases.

The radiological findings of COVID-19 are well-described, including its evolution. In an earlier report of admission chest radiographs of patients with COVID-19, we anecdotally noted relative sparing of the left upper zone (LUZ). We subsequently aimed to describe the main chest radiograph findings in another cohort, focusing on zonal predominance. The admission chest radiographs of 111 patients with CO­VID-19 pneumonia requiring intensive care admission were reviewed by 2 thoracic radiologists and categorized according to the predominant pattern into either ground-glass opacities (GGOs), alveolar infiltrates and/or consolidation, or reticular and/or nodular infiltrates or an equal combination of both, and the extent of disease involvement of each of the zones using a modified Radiologic Assessment of Lung Edema (RALE) score. Parenchymal changes were detected in all. In total, 106 radiographs showed GGOs, alveolar infiltrates, and/or consolidation, and 5 had a combination of reticular/nodular infiltrates as well as GGOs, alveolar infiltrates, and/or consolidation. The LUZ had a significant lower grading score than the right upper zone: 1 versus 2 (p < 0.001). Likewise, the upper zones had a significant lower score than the mid and lower zones (p < 0.001). Our findings confirmed the relative sparing of the LUZ in severe COVID-19 pneumonia.

We report the disparate clinical progression of a couple infected by SARS-CoV-2 based on their immune checkpoint (IC) levels and immune cell distribution in blood from admission to exitus in patient 1 and from admission to discharge and recovery in patient 2. A detailed clinical follow-up accompanied by a longitudinal analysis of immune phenotypes and IC levels is shown. The continuous increase in the soluble IC ligand galectin-9 (Gal-9) and the increment in T-cell immunoglobulin and mucin domain-containing 3 (TIM-3) protein in T cells in patient 1 suggests an activation of the Gal-9/TIM-3 axis and, subsequently, a potential cell exhaustion in this patient that did not occur in patient 2. Our data indicate that the Gal-9/TIM-3 axis could be a potential target in this clinical setting, along with a patent effector memory T-cell reduction.

Tinea capitis is a common fungal infection in children but is less frequently encountered in adults. Tinea capitis presenting as diffuse hair loss is a rare presentation. When patient presents with a diffuse hair loss, tinea capitis is not commonly thought of as differential diagnosis. Low clinical suspicion can lead to inappropriate empiric treatments that delay diagnosis. Trichoscopy in tinea capitis obviates the need for lengthy and invasive procedure or even KOH examinations in the absence of a side lab for diagnosing this common scalp disorder and also avoids misdiagnosis. Trichoscopy not only differentiates tinea capitis from female patterned hair loss but also aids in differentiating ectothrix from endothrix. Here, we present case reports of tinea capitis masquerading as female pattern hair loss with trichoscopy aiding in diagnosis of endothrix infection.

Peripapillary and circumpapillary retinal intraocular metastases are rare and present a treatment challenge for ophthalmologists because of the high risk of iatrogenic injury to the optic nerve. There are no clear guidelines on the management of these lesions, and many clinicians will initially observe for improvement of the metastases with systemic chemotherapy before considering local therapy with external beam radiation. Radiation to the optic disc carries a significant risk of injuring the optic nerve, leading to worsening of vision. Alternative treatment approaches are needed. We present a patient with large-cell neuroendocrine carcinoma with metastasis to the peripapillary retina who was treated with intravitreal topotecan and with intravitreal aflibercept. Serial fundus photos, ultrasound, and optical coherence tomography demonstrated a reduction in size of the lesion and a decrease in subretinal fluid with intravitreal topotecan and aflibercept. In addition, visual acuity was stabilized during treatment. Intravitreal chemotherapy for intraocular metastases in vision-sensitive areas such as the peripapillary retina may be a viable alternative for patients who seek to preserve their vision and maintain their quality of life.

Introduction: Extraneural/-cranial metastases (ENM) of primary central nervous system (CNS) tumors are rare and may be diagnostically challenging. We describe the cytomorphological and pertinent clinical features of ENM in a case series assessed by fine-needle aspiration (FNA). A search of the laboratory information systems of 2 tertiary care centers in Toronto (2000–2015) was performed. Cases with direct extracranial/-spinal extension of CNS neoplasms were excluded. Microscopic slides of FNA and surgical specimens were reviewed. Demographic and clinicopathological data were retrieved. Case Presentation: Six cases were identified with the original diagnoses of glioblastoma, glioblastoma with primitive neuroectodermal tumor-like components, anaplastic ependymoma, myxopapillary ependymoma, atypical meningioma, and hemangiopericytoma. Median patient age at first diagnosis was 44 years (range 22–56). The time interval between initial diagnosis and first metastatic disease manifestation was 3 months to 19 years. All FNA diagnoses were rendered correctly. In 4 cases, immunohistochemistry was used to support the diagnosis. All cases had prior surgical intervention at the primary tumor site. In 4 cases, the ENM location was the ipsilateral parotid or buccal area. Two primary tumors in midline location developed ENM in the scapular area. Discussion/Conclusion: ENM are a rare manifestation of a range of different primary CNS tumors and may involve the ipsilateral head and neck mimicking clinically a salivary gland neoplasm. FNA can rapidly discriminate ENM from other, potentially more indolent conditions. Awareness of the clinical history is paramount to avoid diagnostic confusion.

Introduction: Hidradenitis suppurativa (HS) is a potentially disabling chronic inflammatory disease. The intermammary location, not clearly specified in the usual phenotypic classifications, entails significant functional and cosmetic compromise. Case Presentation: Eleven cases of predominantly intermammary disease with multiple fistulization and disfiguring scarring were observed at our Department between January 2016 and March 2020. They were young (mean age = 22 years) obese or overweight women, in which the medical-surgical approach has led to variable results. Discussion/Conclusion: Intermammary HS possibly represents a unique phenotypic presentation, likely to be fistulizing and severe. We believe that anatomo-functional considerations, which can be paralleled to pilonidal sinus disease, contribute to its pathophysiology and striking appearance, and further emphasize the importance of multidisciplinary endeavor to reduce the morbidity associated with this seemingly overlooked location.

Intellectual disability (ID) is characterized by limited or insufficient development of mental abilities, including intellectual functioning impairments, such as learning and understanding cause-effect relationships. Some cases have ID as the only finding and are called isolated cases. Conversely, cases accompanied by facial dysmorphism, microcephaly, autism spectrum disorder, epilepsy, obesity, and congenital anomalies are called syndromic developmental delay (DD)/ID. Isolated and syndromic DD/ID cases show extreme genetic heterogeneity. Genetic etiology can be detected in approximately 40% of the cases, whereas chromosomal abnormalities are observed in 25%. Obesity is a multifactorial disease in which both genetic and environmental factors play important roles. The role of heredity in obesity has been reported to be between 40 and 70%. Array-based comparative genomic hybridization (array-CGH) can detect CNVs in the whole genome at a higher resolution than conventional cytogenetic methods. Array-CGH is currently recommended as the first-tier genetic test for ID cases worldwide. In the present study, we aimed to evaluate clinical, radiological, and genetic analyses of a 12-year and 4-month-old girl with microcephaly, ID, and obesity. In the array-CGH analysis, a 3.1-Mb deletion, arr[GRGh37] 10q23.31g23.33 (92745793_95937944)×1 was detected, and this alteration was evaluated to be pathogenic. We consider that haploinsufficiency of the candidate genes (GPR120, KIF11, EXOC6, CYP26A1, CYP26C1, and LGI1) in the deletion region may explain microcephaly, ID, obesity, seizures, and ophthalmological findings in our patient. The investigation of 10q23.31q23.33 microdeletion in cases with syndromic obesity may contribute to molecular genetic diagnosis.

Primary cardiac tumors are extremely rare. Obtaining a tissue diagnosis is difficult and commonly requires open-heart surgery with associated morbidity. Esophageal endoscopic ultrasound (EUS) and EUS with the EBUS scope (EUS-B) provide real-time sampling of centrally located lung tumors and mediastinal lymph nodes. They also provide an excellent view of the left atrium, since it is located adjacent to the esophagus. To date, left atrium tumor diagnostics by endosonography is poorly explored. We describe 2 exceptional diagnostic cases of left atrium tumors in which cardiac surgery was hazardous due to the clinical condition or previous surgical interventions. During EUS-B-guided fine-needle aspiration (FNA), the left atrial masses were successfully and safely sampled, revealing a Burkitt lymphoma and a synovial sarcoma. FNA including cell block analysis enabled specific tumor diagnosis and molecular subtyping. Our findings suggest that in selected cases, linear endosonography qualifies as a minimally invasive technique for intracardiac tumor diagnostics.

Perianal hyperhidrosis (HH) is a rare form of primary focal HH and may become a major problem for the patient with a significant psychosocial burden and negative impact on the quality of life. Botulinum toxin injections are widely used as a second-line treatment option for axillary, palmar, and plantar HH with a good safety profile. Herein, we pre­sent a case of primary perianal HH successfully treated with Botulinum toxin A at a dose higher than that previously reported in literature, with a longer response, a higher degree of satisfaction, and no adverse effects. Moreover, we review the main aspects of the perianal anatomy that are essential to carry out the technique correctly and make dermatologists achieve expertise with the procedure.

Individuals with 3p deletion show a great clinical variability. Apparently, a 1.5-Mb terminal deletion, including the CRBN and CNTN4 genes, is sufficient to cause this syndrome. Partial trisomy 13q is a rare chromosomal abnormality with a variable phenotypic expression, but in most cases, patients have a phenotype resembling complete trisomy 13. The aim of the present study is to describe a 9-month-old Mexican male patient with 3p deletion/13q duplication and a novel clinical finding. He presented with facial dysmorphism and multiple congenital alterations. Echocardiogram revealed cardiac insufficiency with hypertrophic cardiomyopathy and pulmonary hypertension, not previously reported. Karyotype from the patient and his father were 46,XY,add(3)(p26) and 46,XY,t(3;13), respectively. Microarray assay of the proband exhibited an approximately 2.6-Mb loss at terminal 3p26.3 and a 27.7-Mb gain of the long arm in terminal chromosome 13 at q31.1q34. A chromosomal imbalance with a partial trisomy 13q31.1q34 and monosomy 3p26.3 of paternal origin were detected. Microarray assay of both parents were normal. The proband has a cardiomyopathy not previously reported. These data enrich the spectrum of clinical manifestations in 3p deletion/3q duplication chromosomopathy.

Osteoma cutis (OC) or cutaneous ossification refers to uncommon bone formation in the skin. Primary OC develops without any predisposing factor or pre-existing lesion, whereas secondary OC sets out as a dystrophic ossification following traumatic, cicatricial, and neoplastic factors or other cutaneous inflammations. Herein, we report a rare case of long-standing progressive primary OC of the scalp resected in 3 sessions with no recurrence after 1 year.

Current evidence from the COVID-19 pandemic suggests that neonatal SARS-coronavirus-2 infections usually have a mild course. Data on how maternal infection during pregnancy affects fetal development are scarce. We present the unique case of a moderate preterm infant with intracranial bleeding and periventricular leukomalacia as a potential consequence of post-COVID-19 hyperinflammation during pregnancy.

Introduction: Monodactylous longitudinal melanonychia (LM) may represent both benign and malignant dermatologic disorders. However, squamous cell carcinoma in situ (SCCis) is not commonly considered in this setting. Case Presentation: In this report, we present 2 cases of SCCis of the nail matrix in patients with skin of color who presented with monodactylous LM involving the lateral aspect of the nail. Conclusion: These cases suggest that SCCis should be included in the differential diagnosis for monodactylous LM, especially when involving the lateral nail plate in darker skin.

Background: The lesions of porokeratosis (PK) lead to skin atrophy and scarring as long as they spread centrifugally. PK affecting the nail unit is seldom described. Objective: The aim was to revise the previously reported cases of ungual PK and to present 3 new cases. Methods: A PubMed search was performed with the keywords “nail” and “porokeratosis.” Previously reported cases as well as 3 new cases are depicted in tables. Results: Only 11 cases of ungual PK were found; 3 new cases have been added. All patients presented with typical lesions of PK (Mibelli, isolated, segmental, or ostial eccrine types) that happened to affect nails due to nail matrix or nail bed compromise, resulting in mild to severe nail scarring, including irreversible anonychia. The present 3 case series contrast with the previous single case reports. Conclusions: PK affecting the nails is exceedingly rare. Changes in nails affected by PK are irreversible, since, as on the skin, this is a chronic scarring process.

Alopecia neoplastica (AN) is caused by neoplastic cells damaging hair follicles, resulting in patchy hair loss like cicatricial alopecia and alopecia areata. AN has predominantly described cutaneous metastasis to the scalp from primary visceral malignant tumors. Less frequently, AN results from a primary scalp neoplasm. Compared to “secondary AN,” there is a paucity of literature on “primary AN.” Herein, we present a comprehensive literature review of primary AN and introduce a unique case of amelanotic melanoma causing primary AN. Including our presented case, 11 cases of primary AN have been reported with causative scalp neoplasms including angiosarcoma, hemangioendothelioma, syringomatous carcinoma, ectopic extramammary Paget’s disease, and primary desmoplastic melanoma. 27.3% (3 of 11) of cases were misdiagnosed and treated for a primary alopecia, and 36.4% (4 of 11) of lesions were present for multiple years or an unknown amount of time, likely due to difficulty in recognizing scalp lesion or misdiagnosis. All patients required surgical excision with 36.4% (4 of 11) requiring chemotherapy, radiation, or photodynamic therapy. Two patients with scalp angiosarcoma died from their aggressive disease. Due to the risks of malignant primary AN if allowed to progress, primary AN should be considered in patients presenting with scarring alopecia.

Introduction: Reticulated hyperpigmentation is a relatively uncommon dermatologic pattern. It is used to describe brown-colored skin lesions that manifest in a lacy or net-like distribution. When a clinician encounters a patient with reticulated hyperpigmentation, its location is often the most helpful feature in establishing a differential diagnosis. As this pattern is rarely observed on the scalp, this site is currently not included in the diagnostic approach. Case Presentation: In this report, we present a case of lichen planopilaris (LPP) in a black man who presented with reticulated hyperpigmentation over the scalp. Conclusion: We suggest that it may be warranted to add LPP to the differential diagnosis of reticulated hyperpigmentation, especially when arising on the scalp of darker skinned individuals.

Kaufman oculocerebrofacial syndrome is a rare autosomal recessive disorder which represents a phenotype mainly involving craniofacial and neurodevelopmental manifestations due to UBE3B gene mutations. The vast majority of the affected individuals exhibit microcephaly, eye abnormalities, and typical facial gestalt including blepharophimosis, ptosis, telecanthus, upslanting palpebral fissures, dysplastic ears, and micrognathia. We encountered 2 siblings in whom severe psychomotor delay, distinctive facial features, hearing loss, and respiratory distress were observed. Some clinical manifestations of the patients, including epibulbar dermoid, microtia, and multiple preauricular tags, were reminiscent of the oculoauriculovertebral spectrum. However, 2 affected siblings exhibited a similar clinical picture consisting of microcephaly, severe developmental and cognitive disabilities, failure to thrive, and dysmorphic features, which were not fully consistent with oculoauriculovertebral spectrum. Also, hypoplastic nails, considered as a core manifestation of Coffin-Siris syndrome, were present in our patients. Therefore, whole-exome sequencing was carried out in order to identify the underlying genetic alterations, contributing to the complex phenotype shared by the 2 siblings. A homozygous pathogenic mutation was found in both affected siblings in the UBE3B gene which caused Kaufman oculocerebrofacial syndrome. Kaufman oculocerebrofacial syndrome should be considered among the autosomal recessive causes of blepharophimosis-mental retardation syndromes, particularly in populations with a high rate of consanguineous marriages, even if there are dysmorphic facial features that are not typically associated with the phenotype.

Background: The aim of this study was to report 2 cases of pulmonary air embolism developing several hours after choroidal melanoma endoresection without the use of air infusion during the surgery, with fatality in 1 patient. Methods: The method of this study was case report. Participants: Two patients with large choroidal melanomas who collapsed several hours after endoresection without air infusion as a result of pulmonary air embolism. Results: A 72-year-old man collapsed 4 h and 30 min after endoresection without air infusion. Computerized tomography angiography confirmed air embolism. The patient died after 86 min of cardiopulmonary resuscitation. A 41-year-old woman collapsed 5 h and 30 min after endoresection, performed without air infusion and with close monitoring, which included right internal jugular vein catheterization intraoperatively. Transthoracic and transesophageal echography, performed preoperatively, intraoperatively, and postoperatively, revealed air embolism only after collapse occurred. Imaging showed the embolism to be biventricular because of patent foramen ovale. The patient was treated promptly with extracorporeal membrane oxygenation and mechanical ventilation, which resulted in a full recovery. Conclusions: Air embolism can develop after endoresection for choroidal melanoma, despite avoiding air infusion. Further studies are needed to understand how this occurs. Special measures are indicated to detect this complication and to treat it promptly and effectively.

Frontal fibrosing alopecia (FFA) is an acquired primary lymphocytic cicatricial alopecia characterized by frontotemporal hairline recession, leading to scarring alopecia with a band-like distribution. Prevalence is increasing worldwide, being the most frequent cause of primary scarring alopecia. The natural history of this condition is variable; however, slow progression with spontaneous remission is the most frequent reported outcome. The etiopathogenesis of FFA remains to be elucidated; numerous hypotheses concerning hormonal effects, environmental factors, and genetic predisposition have been proposed. Special interest on genetic basis has emerged since the first familial case was reported. Only a few more familial cases have been published. We report 6 additional cases of female patients with familial FFA (F-FFA) from 3 different families. Sixty-six percent had a family history of autoimmune disease in first-degree relatives; these same patients had a personal history of autoimmune disease. The families described in this cohort study plus the personal and family history of autoimmune disease, as well as the recently described involved genomic loci; reinforced the hypothesis of this disease being genetic. It is important to consider studying this entity since there are scarce data regarding familial cases and this might give us a better insight toward understanding its pathogenesis.

We report a case of an uncommon presentation of Epstein-Barr virus (EBV)-associated plasma cell neoplasm in a patient with a history of prostate cancer and hairy cell leukemia (HCL) in remission after chemotherapy. The diagnosis of an EBV-associated plasma cell neoplasm was challenging as initially the findings were also compatible with a recurrence of HCL. We highlight the value of diagnostic vitrectomy to achieve the diagnosis. Our particular case demonstrates the importance of diagnostic pars plana vitrectomy and aqueous analyses in patients with uveitis of an unknown cause to confirm the diagnosis.

Granular parakeratosis (GP) is a distinctive acquired keratotic dermatosis that is usually presented with brownish-red hyperkeratotic papules and plaques in the intertriginous areas. Follicular involvement in GP could be either extending lesions from interfollicular epithelium or originating primarily from the follicular epithelium. The latter was named follicular GP and is considered an extremely rare condition. To our knowledge, there has been one reported case so far in the literature. We herein report the second case of follicular GP in a 52-year-old Thai man presenting with multiple tiny filiform hyperkeratotic papules on his face 2 weeks after using anti-melasma cream. We also propose a classification of GP based on its distinct clinical manifestations and histopathological findings.

Introduction: Scalp rosacea is scarcely reported in the literature, but it is probably not uncommon. Trichoscopic findings have not been specifically established for this entity. Case Presentation: We report 4 cases of chronic scalp rosacea with trichoscopic evidence of peripilar scaling that resolved without scarring after treatment. Discussion/Conclusion: Chronic and persistent inflammation around the isthmus produced in scalp rosacea may form peripilar scaling resembling that found in lichen planopilaris.

Background: Traction alopecia (TA) is a preventable form of hair loss that most commonly affects women. It is the result of chronic use of hairstyles that put tension on hair. Public health efforts to increase awareness of this condition are critical. Early recognition by health care providers, along with counseling and cessation of offending hair care practices can impact severity of hair loss. Objectives: In a patient with patchy hair loss, having a high index of suspicion for TA and looking for clues in the history and exam, can help establish an accurate diagnosis. Methods: Patients with afro-textured or curly hair may use various techniques to maintain their hairstyles while sleeping in order to avoid time-consuming and/or expensive hair care. This behavior is not commonly recognized or addressed. Results and Conclusions: Increased awareness of “nocturnal traction” and asking patients “How do you wear your hair when you sleep?” may help identify at-risk patients.

We report a case of a choroidal metastasis secondary to testicular mature teratoma, a subtype of non-seminoma germ cell tumours, in a young adult male. The choroidal metastasis was treated successfully with bleomycin, etoposide, and cisplatin chemotherapy without the need for adjuvant radiotherapy. This represents a rare case of mature teratoma metastasizing to the choroid and one of very few reported testicular germ cell tumours to achieve normal or near normal visual acuity with chemotherapy alone despite severe macular disease at presentation.

Purpose: This report describes a case of relapsed primary breast lymphoma (PBL) presenting as vitreoretinal lymphoma (VRL). Methods: We describe the clinical and hematopathologic findings in a patient with relapsed PBL involving the vitreous of both eyes. Results: A 59-year-old woman was treated for PBL with systemic and intrathecal chemotherapy 5 years prior to presentation. Three years later, she presented to an outside clinic with blurred vision in both eyes and bilateral vitritis. She was referred to our clinic with concern for ocular lymphoma. On presentation, the patient’s best-corrected visual acuity was 20/40 in the right eye and 20/25 in the left eye with 3+ vitreous cells in the right eye and 2+ vitreous cells in the left eye. Vitreous biopsy of the right eye revealed CD5-negative/CD10-negative B-cell lymphoma cells on flow cytometry. She had no evidence of disease on brain MRI, lumbar puncture, bone marrow biopsy, or full-body CT scans. She was treated with a regimen of rituximab, methotrexate, procarbazine, and vincristine for central nervous system penetration as well as multiple intraocular injections of methotrexate and rituximab with improvement in vision and ocular inflammation bilaterally. Conclusion: Relapsed PBL can present as bilateral VRL.

Congenital curved nail of the fourth toe (CNFT) is a rare nail deformity. We report a case of CNFT with thickening and hyperkeratosis at the hyponychium and peripheral nail bed that was successfully treated using a novel surgical technique. A 7-year-old Japanese boy had a clawed nail with thickening and hyperkeratosis at the hyponychium and peripheral nail bed on his bilateral fourth toes. His chief complaint was pain. The nails of the bilateral fourth toes curved plantarly and exhibited thickening and hyperkeratosis of the hyponychium and peripheral nail bed. A surgical approach was planned to improve the condition. The distal phalanges that deviated and formed a point toward the nail bed were partially shaved, and a soft tissue flap was created in the finger pad and shifted to cover the distal phalanges. The dorsal side of the distal phalanges was covered by the nail bed flap. Recurrence has not been observed for 3 years after surgery. There is limited evidence supporting surgical approaches for CNFT. This approach may be an effective treatment option for CNFT with thickening of the nail bed.

Introduction: Amelanotic melanoma is a rare subtype, which may be clinically difficult to diagnose due to lack of pigmentation and variable histopathological features. Osteoinvasion is another rare characteristic of melanoma. There are few reports in the literature of amelanotic melanoma of the nail unit (nail bed, matrix, and nail folds) with invasion of bone. Case Presentation: We present a case of a 73-year-old Caucasian male with a 13-month history of an ungual lesion on his right hallux. The lesion was initially treated as a chronic diabetic ulceration with failure to resolve with standard of care. Discussion/Conclusion: A heightened index of suspicion for a malignant process is necessary when standard of care fails to lead to improvement or resolution. In these instances, biopsy should be seriously considered.

Purpose: The aim of this study was to describe the surgical repair of a rhegmatogenous retinal detachment (RRD) with a posterior break in a child with retinoblastoma (RB). Methods: Retrospective case report and review of the English language literature. Retrospective review of an 11-month-old male with bilateral retinoblastoma who developed a RRD with a posterior retinal break in his better-seeing eye after treatment with cryotherapy. A review of all published cases to date of RRD in patients with RB is presented. Results: The patient underwent a posterior segmental scleral buckle without subretinal fluid drainage with successful reattachment of the retina and no extraocular extension of RB. Conclusions: RRDs in RB patients may be successfully repaired with anatomic success and no extraocular tumor extension. Even for patients with a posterior break, a segmental scleral buckle without drainage of subretinal fluid is a viable option and long-term excellent vision is a possible outcome.

An 84-year-old female presented with bilateral scotomas and progressive nyctalopia over 1 year. Best-corrected visual acuity was 20/50 in both eyes with reduced color vision. Goldmann visual field showed bilateral cecocentral scotomas and generalized constriction of the visual fields. This led to an electroretinogram showing an electronegative pattern consistent with autoimmune retinopathies. Infectious workup was negative. Anti-retinal antibodies were positive, leading to a presumed diagnosis of cancer-associated retinopathy (CAR). Imaging showed a previously unknown left renal lower pole mass, and she underwent a radical nephrectomy. Biopsy showed nuclear grade-3 clear cell renal carcinoma staged T1. The patient was treated with oral prednisone with no ocular improvement. We report on a rare case of clear cell renal carcinoma causing CAR. CAR is an important paraneoplastic syndrome to diagnose since the majority of ocular cases precede other manifestations of malignancy. Therefore, a timely diagnosis of CAR can be lifesaving or at least life-extending.

Introduction: Lichen planopilaris (LPP) is a primary lymphocytic cicatricial alopecia with 3 recognized clinical variants. Lately, LPP clinical spectrum has expanded with new and overlapping clinical variants. First considered as a subtype of LPP affecting postmenopausal women, the increasing worldwide incidence of FFA including atypical lesions in young female and male suggests a different pathomechanism for this disease. Although LPP-spectrum disorders may share similar histopathological findings, clinical features and prognosis are different. Case Report: A 26-year-old Caucasian male presented with occipital scarring alopecia and pruritus for the last 6 months. The patient had been treated for an associated androgenetic alopecia and superficial recurrent scalp folliculitis over the vertex scalp for the last 5 years. Trichoscopy of the occipital scalp showed mild diffuse erythema, moderate peripilar scaling, and absence of follicular openings, suggestive of a scarring process. The patient underwent an occipital scalp biopsy that confirmed the diagnosis of a LPP-spectrum disorder. Discussion/Conclusion: Both LPP and FFA mostly affect the anterior-mid scalp of females. However, recent reports on FFA also in premenopausal women and men should make physicians aware of atypical features of this disease and unusual clinical presentation.

Trichotillomania is a compulsive disorder characterized by repetitive hairpulling. It is an important cause of patchy alopecia, especially in children between 9 and 13 years of age. The aim of this paper is to report 2 pediatric cases presenting with trichotillomania without patches. This condition may be extremely distressful, impacting psychosocial development of children. In these case reports, we reinforce the relevance of trichoscopy in hair disorder evaluation, which allowed early recognition to better advise and conduct these unique pediatric cases.

Hypotrichosis with juvenile macular dystrophy is an autosomal recessive disorder due to a mutation in the CDH3 gene. As its name indicates, the disease classically presented with hypotrichosis and early visual impairment. We describe herein a family member with alopecia since birth associated with severe visual impairment in their early life. We suspect the diagnosis of hypotrichosis with juvenile macular dystrophy. Genetic testing confirms the clinical suspension. We emphasize the importance of genetic testing for proper genetic counseling.

Introduction: Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease of hair follicles which usually affects patients’ quality of life negatively. Although there are various therapeutic approaches including topical and systemic antibiotics, retinoids, biological agents, and also surgical modalities, there is no curative treatment option and clinical management of HS is still challenging. Case Presentation: Herein, we present a 43 year-old man with HS who had used different treatments in 15 years. The patient showed improvement initially with adalimumab, then exhibited secondary unresponsiveness after 18 months. While worsening of HS was recorded due to increased discharge under secukinumab, no additional benefit was observed with methotrexate. He was not willing to undergo surgical procedures due to previous surgical experience. Finally, certolizumab pegol has been started to patient with similar dosing to psoriasis patients. Sartorius, 10-point visual analogue scale (VAS), and dermatological life quality index (DLQI) scores regressed from 171 to 105, 9/10 to 3/10, and 27 to 19 after 3 months with certolizumab pegol treatment. Discussion/Conclusion: Certolizumab pegol is a humanized antigen-binding fragment of a monoclonal antibody which binds to TNF-alpha. However, certolizumab pegol is only approved for plaque psoriasis in dermatology; it is likely to be a promising effective agent for HS, especially in challenging cases.

Onychomycosis often presents as thickened, discolored nails. Usually, one or both great toenails are affected. Eventually, the nail plate becomes friable and may split and break up, often due to trauma or invasion of the plate by dermatophytes that have keratolytic properties. Dermatophytoma is a unique feature of onychomycosis that occurred by abundant fungal filaments and spores forming a fungal ball under the nail plate. It is often refractory to traditional therapy. Based on the clinical and mycological examination, a case of onychomycosis in a 45-year-old woman presented as dermatophytoma with longitudinal nail splitting caused by Trichophyton rubrum is presented. The case was successfully treated with nail plate debridement plus topical ciclopirox olamine 1% solution. Nail debridement was performed using a 15-scalpel blade to remove the affected nail portion with the underlying subungual debris to enhance the effect of topical ciclopirox 1% solution which was then applied 3 times daily to the debrided area. Follow-up visits with nail photography were planned every 2 weeks after the procedure to check treatment progress. A complete clinical resolution was achieved after 5 months. This treatment option can be advocated for similar nail conditions avoiding unnecessary and expensive lines of treatment.

Introduction: Klinefelter syndrome (KS) is defined as (a chromosomal disorder in which males have an extra X chromosome). KS presents clinically with signs of androgen deficiency including low testosterone. Androgenetic alopecia (AGA) develops as a response of the hair follicle cells to androgens in individuals with genetic predisposition. Case Presentation: We describe a 17-year-old male patient with KS who developed AGA with a Ludwig pattern. Conclusion: Our patient had a good response to oral minoxidil, finasteride, and low-level light therapy.

We present the case of an infant referred to our NICU born at 39 weeks’ gestation with persistent hypoglycemia with elevated insulin levels (HI) requiring diazoxide to maintain normoglycemia. Additionally, polycystic kidney disease (PKD) was detected by ultrasound. Molecular genetic testing revealed pathogenic variants in the PMM2gene, i.e., a variant in the promoter region and a missense variant in the coding region. The precoding variant was recently described in 11 European families with similar phenotypes, either in a homozygous state or as compound heterozygous with a pathogenic coding variant. In neonates with HI associated with PKD, this rare recessive disorder should be considered.

Infantile pyknocytosis is a rare, self-limited, hemolytic condition of unknown pathogenesis. It is diagnosed when a neonate with Coombs-negative hemolytic anemia has abundant pyknocytes and a characteristic clinical course after other hemolytic disorders has been excluded. Previous reports suggest that transfusions might be avoidable in this condition by administering recombinant erythropoietin. We cared for a patient with this disorder where we employed novel diagnostics and therapeutics. Despite these, and a good outcome free of transfusions, we continue to consider the condition to be idiopathic.

Intraductal carcinomas are rare, malignant tumors that arise from the salivary glands. They commonly grow from the parotid gland and no cases growing from the parapharyngeal space have been reported to date. We report a 76-year-old man who was inadvertently found to have a parapharyngeal lesion by CT scans and MR imaging. The tumor was resected through an upper neck approach and diagnosed histopathologically as intraductal carcinoma. As far as we are aware, this is the first case of intraductal carcinoma arising from the parapharyngeal space. Here, we describe the management of this disease together with a review of the relevant literature.

Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant disorder with a variable clinical phenotype including synophrys, hypertelorism, thick eyebrows, long eyelashes, wide nasal bridge, long philtrum, hypertrichosis, growth retardation, and intellectual disability. Cornelia de Lange syndrome (CdLS) is a rare disease characterized by synophrys, long eyelashes, limb abnormalities, generalized hirsutism, growth retardation, and intellectual disability. In both WDSTS and CdLS, the malformations are due to transcriptome disturbance caused by defects in the genes encoding the components of chromatin regulation and transcription process. The overlapping features in these two syndromes may complicate the original diagnosis of a patient. Here, we report on a Wiedemann-Steiner patient found to have a de novo pathogenic KMT2A variation who had been clinically suspected as CdLS. We suggest that targeted next-generation sequencing is a feasible tool for the precise diagnosis of patients who have phenotypically and clinically overlapping features of CdLS and WDSTS.

Introduction: Subungual squamous cell carcinoma (sSCC) is the most frequent malignant tumor of the nail unit. When suspecting sSCC, accurate diagnosis is supported by nail biopsy. Depth of invasion and histopathologic signs of human papillomavirus (HPV) infection are related to an unfavorable prognosis. In this case, it is necessary to rule out bone invasion by radiography or MRI, and in case of doubt, amputation is indicated. Case Presentation: We present 2 cases of sSCC with a confirmatory biopsy of sSCC with HPV and invasion; in both cases, MRI was difficult to distinguish between bone invasion and bone marrow inflammation. Before amputating the distal phalanx, we decided to perform a bone biopsy during the excisional surgery. Neither case required amputation. Conclusion: We propose that when an invasive sSCC is present and an MRI is doubtful of bone invasion, before amputating, a bone biopsy should be performed.

ALG1-congenital disorder of glycosylation (ALG1-CDG) is an autosomal recessive multisystem disease. We here present a patient with a mild phenotype of ALG1-CDG. A 15-month-old female was referred with hypotonia, failure to thrive, and developmental delay. At 8 months of age, failure to thrive, feeding difficulties and developmental delay became apparent, and an epileptic seizure was observed at 11 months of age. Progressive deterioration and swallowing difficulty were observed. A brain MRI revealed a widening of the cerebrospinal fluid spaces and ventricular system, and decreased protein C, protein S and antithrombin III levels were identified. The isoelectric focusing showed a type 1 pattern. A homozygous c.1076C>T (p.Ser359Leu) variant was found in the ALG1 gene. CDG should be taken into consideration in patients presenting with unexplained multisystem involvement.

Treatment options for severe asthma are limited, particularly in those patients who do not meet criteria for biologicals. Targeted lung denervation (TLD) is the bronchoscopic ablation of the peribronchial vagal nerve trunks to reduce cholinergic stimulation of airway smooth muscle and submucosal glands. This report describes the experience of the first 2 asthma patients treated with TLD worldwide. The participants were 54 and 51 years of age, and both had severe asthma (GINA 5) (FEV1: 53% and 113% of predicted; AQLQ scores: 5.3 and 4.4). Both participants were treated with TLD in a single day-case procedure under general anaesthesia. Lung function, health status, and adverse event data were collected at baseline and 12 months after TLD. No treatment-related serious adverse events were reported up to 12 months. Cough symptoms improved in both participants, and 1 participant reported a marked reduction in rescue medication use at 6 months. There were no significant changes in spirometry, lung volumes, or health status. In conclusion, TLD was performed safely in both participants, but more evidence is needed to clarify safety and efficacy of TLD in severe asthma. Therefore, further investigation of the treatment in severe asthma patients would be useful.