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Heterozygous variants in TUBB encoding one of β-tubulin isotypes are known to cause two overlapping developmental brain disorders, complex cortical dysplasia with other brain malformations (CDCBM) and congenital symmetric circumferential skin creases (CSCSC). To date, six cases of CSCSC and eight cases of CDCBM caused by nine heterozygous variants have been reported. Here we report two cases with novel de novo missense TUBB variants (NM_178014.4:c.863A>G, p.(Glu288Gly) and c.869C>T, p.(Thr290Ile)). Case 1 presented brain malformations consistent with tubulinopathies including abnormalities in cortex, basal ganglia, corpus callosum, brain stem, and cerebellum along with other systemic features such as coloboma, facial dysmorphisms, vesicoureteral reflux, hypoplastic kidney, and cutis laxa-like mild skin loosening. Another case presented abnormalities of the corpus callosum, brain stem, and cerebellum along with facial dysmorphisms. We reviewed previous literature and suggest the diversity of clinical findings of TUBB-related disorders.

Report of a case, a 7-year-old male patient, with a single neoformation on the back, without a history of trauma or infection, suggestive for a diagnosis of cutis lymphocytoma. This entity is characterized by clinically and histologically simulating cutaneous lymphoma, for this reason, the characteristics that allow us to identify if the clinical picture is of good prognosis or not are described.

El síndrome verrugoso tropical comprende condiciones cutáneas infecciosas, crónicas y granulomatosas que cursan con placas, nódulos o úlceras verrugosas, de ahí su nombre. Este síndrome incluye la cromoblastomicosis, la esporotricosis, la paracoccidioidomicosis, la lobomicosis, la leishmaniasis y la tuberculosis cutánea verrugosa, todas ellas enfermedades de amplia distribución en áreas tropicales y subtropicales. Sus diagnósticos pueden ser difíciles y confundirse entre sí, lo cual es más frecuente entre la esporotricosis y la leishmaniasis. Para distinguirlas se recurre a criterios clínicos y epidemiológicos, y a métodos diagnósticos como intradermorreacción, examen directo, biopsia, cultivo, inmunofluorescencia y PCR, algunos de los cuales no son de uso común. El diagnóstico preciso conduce al tratamiento adecuado. Se presenta el caso de un hombre de 18 años con extensas placas verrugosas en una rodilla, inicialmente interpretadas como leishmaniasis verrugosa por la clínica, la epidemiología y la biopsia. Se le trató con Glucantime® durante 20 días, pero no presentó mejoría, por lo que se tomó una nueva biopsia que también se interpretó como leishmaniasis cutánea. La revisión de ambas biopsias evidenció inflamación con granulomas abscedados y presencia de cuerpos asteroides esporotricósicos, que condujeron al diagnóstico de esporotricosis, el cual se confirmó luego con el cultivo del hongo. Las lesiones remitieron con la administración de itraconazol.La clínica y la epidemiología de la leishmaniasis y las de la esporotricosis pueden ser semejantes, por lo que la biopsia y los estudios de laboratorio son esenciales para establecer el diagnóstico. El cuerpo asteroide esporotricósico es patognomónico de esta entidad.

Calcinosis cutis is a rare, benign and usually asymptomatic condition which may involve any part of skin. Characterized histologically by deposition of calcium within the dermis. Can present at variable site with variable pathogenesis. This case series present the rare entity of idiopathic cutaneous calcinosis which can be diagnosed accurately with clinical, pathological and metabolic correlation, is completely curable by surgical excision and has an excellent prognosis. Keywords: Calcinosis cutis, Idiopathic, Histopathology, Dystrophic calcification.

Cutis Vertcis gyrata is an uncommon neurocutaneous syndrome characterized by excessive growth of the skin of the scalp or the face, forming folds of similar aspect to cerebral cortex gyri. Three categories have been individualized: the primary form, essential or non-essential, and the secondary form.

Leukemia cutis [LC] is the infiltration of neoplastic leukocytes or their precursors into the epidermis, the dermis, or the sub cutis, resulting in clinically identifiable cutaneous lesions. LC may follow, precede, or occur concomitantly with the diagnosis of systemic leukemia.Here we present a case report of Chronic Myeloid Leukemia [CML] cutis in a 32-year-old female who was a known case of CML and presented with multiple erythematous nodules all over her body. Cytological study from the aspirates of these nodules revealed MPO [Myeloperoxidase] positive immature cells from myeloid series.

Tuberculosis (TB) is one of the major public health problem in developing country like India. Cutaneous tuberculosis which is only 1-1.5% of all cases of extra pulmonary TB, is mostly common in the paediatric age group as compared to adults. A rising incidence of cutaneous tuberculosis is seen as a marker of active transmission of the disease in the community. The present study was done on paediatric age group children (upto 13 years) attending Dermatology OPD of Silchar Medical College and Hospital, Assam to report the clinical pattern and types of cutaneous tuberculosis, and atypical presentations if any, for a period of one year. Material and Methods: All the clinically suspected cutaneous tuberculosis in paediatric patients up to 13 years of age attending the Dermatology OPD of Silchar Medical College and Hospital in one year duration were studied to find out the clinical pattern of cutaneous tuberculosis. Selected cases have been subjected to various investigations including histopathological study. Results: A total of 11 cases were selected after fulfilling inclusion and exclusion criteria. Male to female ratio was 4.5:1. Commonest type was scrofuloderma (54.55%), followed by lupus vulgaris (36.36%), and tuberculosis verrucosa cutis (9.09%). In this study most of cases were in the age group 11-13 years, the youngest was 4 year old boy. Lower limb involvement was the commonest presentation, followed by involvement of neck. Only two of the cases had family history of TB. All the cases responded well to standard directly observed treatment short course (DOTS) anti-tubercular treatment. Conclusion: Cutaneous tuberculosis continues to be a significant medical problem even with the advent of highly effective anti-tubercular drugs because it has varied clinical presentations. Therefore high clinical suspicion is required to diagnose the case. Proper and meticulous clinical evaluation with relevant investigation aids early diagnosis and successful ther

Background: Cutaneous tuberculosis refers to the clinical manifestation of extrapulmonary tuberculosis affecting the skin. Determining the type of cutaneous tuberculosis from a patient afflicted with is challenging because clinical and histopathological similarities exist between types. Moreover, confirming a diagnosis of cutaneous tuberculosis is difficult because of its similarity with other diseases. For instance, typical and atypical cutaneous tuberculosis may have similar manifestations, but each disease is managed by completely different approaches. Microbiological examination with polymerase chain reaction and bacterial culture are the gold standard methods used to confirm a diagnosis of cutaneous tuberculosis. However, results often demonstrate negative findings. Case Illustration: Five cases of cutaneous tuberculosis, which include two cases of tuberculosis verrucosa cutis, two cases of scrofuloderma, and one case of lupus vulgaris were presented in this article. Four of the five cases demonstrated significant improvement after initiation of an antituberculosis drug regimen. Discussion: Diagnosis of cutaneous tuberculosis in these cases was confirmed through clinical findings and histopathological and microbiological examination. Conclusion: A negative result following microbiological examination does not completely exclude the diagnosis of cutaneous tuberculosis. Investigating the pathognomonic findings of cutaneous tuberculosis through histopathological examination is important to differentiate among its types correctly. Therefore, correlations between clinical and histopathological results are essential to establish a diagnosis of cutaneous tuberculosis.

Fibrosarcomas are rare but highly fulminant and aggressively malignant neoplasm whichoccurs as a result of mutated spindle-shaped fibroblasts. According to WHO, they are soft tissuesarcoma commonly present seldom at cutis. The etiology of such a malignancy is obscurednevertheless it has several predisposing factors like pre-existing pathology but the commonest ofthem is radiation. Mesenchymal malignancies were initially over-diagnosed and were the epicenter ofdiagnostic dilemma to the pathologist, but with the advent of Vimentin staining andimmunohistochemistry, the diagnostic front has fairly advanced for fibrosarcomas. Incidence ofFibrosarcoma in Maxilla accounts for less than 0.1%, when compared to other head and neckmalignancies, and is predominantly found between 2nd to 6th decades of life. Various approacheshave been documented in the literature regarding its treatment, but aggressive surgical excisionremains the mainstay of treating Fibrosarcomas. The role of adjuvant medicinal therapies have beenwell debated but do have a conclusive outcome. Through this article, we want to highlight anddocument a case, which occurred at an exceptionally young age, at a site that had no predisposingfactors but has proven immunohistochemical diagnosis and was rapidly fulminating and aggressivelymalignant. The preoperative diagnosis of the patient was inconclusive reporting it to be amesenchymal tumor, therefore, the patient was treated with the intraoral approach for wide surgicalresection. The surgical specimen was subjected to immunohistochemistry with Vimentin stainingwhich reported it to be a Fibrosarcomas, therefore the patient was advised chemotherapy, yet theprognosis is guarded.

Scleroderma is a rare, autoimmune, chronic condition that affects the connective tissue by excessive collagen production. If diagnosed before the age of 16, it is referred to as juvenile scleroderma. There are two major types of the condition: localized and generalized scleroderma. Localized scleroderma has a much higher incidence than the generalized type which is extremely rare among children and affects mostly adults. In either case, imaging can prove to be useful in both the diagnosis and monitoring of the disease. In this article, we aim to review the imaging findings that can be present in juvenile scleroderma, focusing on ultrasonography, magnetic resonance imaging, and classic radiography. Ultrasound provides high-resolution images in real-time dynamic examination. With high-frequency transducers, it may provide a considerable input into the imaging of skin and musculoskeletal involvement. Several findings might be present when using B-mode or Doppler modalities such as thickening and hypervascularization of the cutis and subcutaneous tissue, synovitis and tenosynovitis, as well as small calcifications. Magnetic resonance imaging is also useful to evaluate inflammatory skin infiltration or skin atrophy, as well as deeply located structures, including fasciae, muscles and joints that might not be seen on ultrasonography. This modality is, however, expensive and time-consuming, and might require sedition in children. Classic radiology can show soft tissue calcifications, acroosteolysis, contractures, and subluxations. Computed tomography, which requires a high dose of radiation, is generally avoided in children, except in very specific cases.

Introduction: Verrucous lesions present as cauliflower like, slowly growing masses, which may be single, multiple or diffuse involving the broad areas of skin or mucosal surfaces. Clinically these lesions are diagnostic challenges. Histopathology remains the gold standard in diagnosing this diverse group of verrucous lesions. The aim of this study was to understand the microscopy of clinically verrucous lesions. Material and Methods: This is a retrospective data of clinically verrucous lesions over the past five years. Clinical details were obtained from the archives and diagnosis was noted from the pathology records. A total of 116 clinically verrucous lesions were included. Results: Majority of the cases were Verruca vulgaris (37 cases), followed by 33 cases of Seborrheic keratosis. There were 12 cases of verrucous carcinoma, seven cases of tuberculosis verrucosa cutis, six cases of verrucous nevus and one case of verrucous hemangioma. The other cases were of varied histology, inspite of clinically verrucous appearance. All the cases were diagnosed purely based on histopathology findings, which show characteristic morphological features, which help the pathologist in the correct diagnosis. Conclusions: Histopathologic confirmation helps in alleviating the anxiety of the patients and helps us to arrive at a correct diagnosis. Keywords: Carcinoma, Papillomatosis, Seborrheic keratosis, Verrucous, Wart.

Introduction: Proteinuria is a risk factor for the progression of Nephrotic Syndrome. Xerosis cutis is a disorder of the skin due to reduced fluid or oil content in the skin that moisture the surface of the skin layer. The three primary keys that play a role in the incidence of Xerosis Cutis are the lack of moisture-binding substances, lack of skin fat and ceramics and the latter lack of skin moisture wiring in the viable epidermis mediated by the aquaporin water channel. Reduced protein content and impaired collagen maturation, for example due to proteinuria, might influence the mechanism behind preservation skin moisture. This study aimed to determine the relationship between the severity of proteinuria and Xerosis Cutis in children with Nephrotic Syndrome.Method. This is a cross-sectional analytic study involving 50 patients with Xerosis Cutis with Nephrotic Syndrome. Kruskal Wallis test is used to determine the association of proteinuria severity with Xerosis Cutis in children with Nephrotic Syndrome.Result: The median value of age was 8 (3-16) years, with the most range at 6-10 years old (52%). It consists predominantly of male patients (68%). The duration of the Nephrotic Syndrome has a median value of 2 (1-7) years. Subject with +1 proteinuria (36%), +2 (32%), +3 (28%) and +4 (4%). Skin moisture level was dry (Xerosis Cutis) (36%), normal (56%), and moist (8%). Â There was a significant association between skin dryness and the severity of proteinuria (p = 0.002).Conclusion: There is a significant relationship between the severity of proteinuria and Xerosis Cutis. The higher the severity of proteinuria associated with having skin dryness and thus indirectly describing the more protein wasted through urine.

Cutis verticis gyrata (CVG) is a rare skin disorder characterised by thick skin folds and grooves, resembling the gyri and sulci of the cerebral cortex. It can be classified as primary essential, primary non-essential and secondary CVG. The rarity of the condition poses a challenge in the diagnosis and ultimately requires good communication between the clinician and the dermatopathologist for diagnosis. Many names have been given to the condition, including Robert-Unna syndrome, cutis verticis plicata, paquidemia verticis gyrata, cutis sulcata, cutis striata or “bulldog” scalp syndrome. To date, the treatment is still limited to plastic surgeons with excision of the folds, scalp reduction and reconstruction. In this article, we are sharing a rare case and the surgical management of a middle age gentleman with cutis verticis gyrata secondary to cerebral intradermal nevus (CIN) over his occipital scalp., {"references":["Larsen F, Birchall N. Cutis verticis gyrata: three cases with different aetiologies that demonstrate the classification system. Australas J Dermatol. 2007;48(2):91-4. doi: 10.1111/j.1440-0960.2007.00343.x.","Tucci A, Pezzani L, Scuvera G, Ronzoni L, Scola E, Esposito S, et al. Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases. Am J Med Genet A. 2017;173(3):638-46. doi: 10.1002/ajmg.a.38054.","El-Husseiny M, Yarrow J, Moiemen N. Primary cutis gyrata: Review of literature and a successful new surgical approach. Eur J Plast Surg. 2010;33(3):153-7. doi: 10.1007/s00238-009-0383-y.","Beier JP, Kneser U, Horch RE. Surgical treatment of facial cutis verticis gyrata with direct excision. J Cutan Med Surg. 2007;11(1):4-8. doi: 10.2310/7750.2007.00003.","Taha HM, Orlando A. Butterfly-shape scalp excision: a single stage surgical technique for cutis verticis gyrata. J Plast Reconstr Aesthet Surg. 2014;67(12):1747-9. doi: 10.1016/j.bjps.2014.07.039.","Zhang MJ, Sun ZY, Liu Y, Wu SM, Lu KH. Rare giant secondary cutis verticis gyrata. J Plast Surg Hand Surg. 2011;45(4-5):212-4. doi: 10.3109/02844311.2010.488883.","Mutlu OO, Colak O, Canli M, Akcay A. Scalp Reconstruction With Free Latissimus Dorsi Flap in a Patient With Giant Cutis Verticis Gyrata. J Craniofac Surg. 2016;27(6):e553-e554. doi: 10.1097/SCS.0000000000002862.","Orkin M, Frichot BC 3rd, Zelickson AS. Cerebriform intradermal nevus. A cause of cutis verticis gyrata. Arch Dermatol. 1974;110(4):575-82. doi: 10.1001/archderm.110.4.575.","Desai SC, Sand JP, Sharon JD, Branham G, Nussenbaum B. Scalp reconstruction: an algorithmic approach and systematic review. JAMA Facial Plast Surg. 2015;17(1):56-66. doi: 10.1001/jamafacial.2014.889.","Moehrle M, Lischner S, Dunsche A, Breuninger H, Hauschild A. Cerebriform giant melanocytic nevus of the scalp: report of two cases with different surgical approaches. Dermatol Surg. 2002;28(1):75-9. doi: 10.1046/j.1524-4725.2002.01105.x."]}

Introduction: In geriatrics, there are changes in structure and function results in histopathological, physiological and clinical skin changes. The conditions can cause morbidity and decreases the quality of life of patients. This study was the first study that provide the characteristics of geriatric skin disorders in Dr. Mohammad Hoesin Hospital Palembang. Methods: This study was descriptive observational with cross-sectional design using total sampling method performed among patients in Geriatric Outpatient Clinic, Dermatology and Venereology Outpatient Clinic and geriatric inpatient room in Dr. Mohammad Hoesin Hospital on July-September 2019. Results: Physiological skin changes in geriatrics include xerosis cutis (13,95%), seborrheic keratosis (13,17%), guttate hypomelanosis (8,5%), senile lentigen (6,97%), freckle (2,32%), periorbital hyperpigmentation (1,55%), senile purpura (0,77%) and poikiloderma civatte (0,77%). The most skin disorder found were lichen simplex chronicus (11,1%), pressure ulcers (9,25%), senile pruritus (8,32%), asteatotic dermatitis (6.47%) and candidiasis (3,7%). The most common comorbid condition were diabetes mellitus in 16 patients (22,5%), CVD in 7 patients (9,9%), hypertension in 6 patients (8,5%), AKI in 6 patients (8,5 %), and HHD in 4 patients (5,6%). Diabetes mellitus was significantly associated with xerosis cutis (p = 0,0007), senile pruritus (p = 0,015), and guttate hypomelanosis (p = 0,016). Conclusion: The most physiological skin changes found in geriatric patients in Dr. Mohammad Hoesin Hospital were xerosis cutis, seborrheic keratosis, and guttate hypomelanosis, while skin disorder were lichen simplex chronicus, pressure ulcer, and senile pruritus. Diabetes mellitus was significantly associated with skin disorders.

Introduction: Cutaneous tuberculosis is not a uncommon type of extrapulmonary tuberculosis in India. Our aim was to study the various clinico morphological pattern and epidemiology of cutaneous tuberculosis, and to correlate them with mantoux reactivity and human immunodeficiency virus (HIV) status. Materials and Methods: During the one year newly diagnosed patients of cutaneous tuberculosis were included in this study, attending at Dermatology Outpatient Department. The demographic details, clinical and vaccination history, family history and clinical features were recorded. Monteux test, HIV (ELISA) test and other relevant test done in all cases. Diagnosis was confirmed by clinical, histopathological and microbiological evidences. Results: In our study out of total 34 cases most common morphological variant of cutaneous tuberculosis was lupus vulgaris (LV) (38.23%) followed by Scrofuloderma (SFD) (29.41%) and tuberculois verrucoa cutis (20.59%). In morphologic pattern, plaques were most common lesions in both tuberculois verrucoa cutis and lupus vulgaris while ulcerative lesions were in scrofuloderma. Conclusions: Skin tuberculosis as well as other extra-pulmonary TB is an important issue in the era of HIV-AIDS. As current and newer diagnostic tools are not enough sensitive, specific or cost effective in its diagnosis, knowing its clinical pattern and presentation is important. Keywords: Acid fast bacilli, Cutaneous tuberculosis, HIV, Lupus vulgaris.

Background Epidermolysis bullosa with pyloric atresia (EB-PA), also known as Carmi syndrome, is an uncommon, autosomal recessive genodermatosis that typically affects the skin and gastrointestinal tract. EB-PA is caused by homozygous or compound heterozygous mutations in the integrin alpha 6 (ITGA6) gene on chromosome 2q31.1 or in the integrin beta 4 (ITGB4) gene on 17q25.1. Case presentation A male premature infant was born with aplasia cutis, atresia of the pylorus, and bilateral hydronephrosis. His clinical and imaging findings were compatible with EB-PA. A novel, small deletion of the last two bases in exon 6 and the first two nucleotides of intron 6 (c.565_566+2del) in ITGB4 gene was identified. Conclusion EB-PA-aplasia cutis congenita is known to be a non-treatable condition with a poor prognosis as the reported case. The novel mutation reported in this patient may lead to the lethal form of this disease. Identification of underlying genetic abnormality is critical to give genetic counseling.

The skin is the largest organ in the human body; beyond its regulatory and sensory roles, it is meant to protect and act like a barrier against foreign matter. Products intended to restore the skin health should reintegrate the structure of the stratum corneum in which the corneocytes are surrounded by the intercellular lipid lamellae that maintain both corneum integrity and skin permeability barrier. Capilen is a specific liposomal formulation based on a technology through which highly concentrated fresh plant extracts are conveyed into a jelly-like liposomal vehicle and combined with plant-derived omega-3, -6, -7, and -9 fatty acids, phospholipids, and precursors of ceramides. Its components have been widely investigated and produced clinical benefits in atopic dermatitis, bedsores, scars, inflammatory lesions of the skin, and generally whenever signs of xerosis cutis were present. Liposomes contribute to restore the surface lipid layer of the skin and to deliver substances in the activity site. This liposomal cream was proven to limit and delay the occurrence of radiodermatitis in breast cancer patients, and as an add-on provided complete healing of bedsore lesions in geriatric subjects.

Background: Amyloidosis cutis dyschromica (ACD) is a rare type of primary localized cutaneous amyloidosis. Non-invasive techniques can provide important clues for early diagnosis.Objectives: To highlight the characteristic imaging changes of ACD under dermoscopy and reflectance confocal microscopy (RCM), investigate gene mutations in a Chinese Han pedigree of ACD, and analyze the genotype–phenotype correlation.Methods: Dermoscopy and RCM examinations were completed together for the pedigree, and the imaging characteristics were described. The diagnosis of ACD was confirmed by pathological examination. Sequencing was performed followed by bioinformatics and genotype–phenotype correlation. ACD-related articles published on PubMed between January 1970 and March 2021 were reviewed and summarized.Results: In ACD, dermoscopy showed patchy white hypopigmentation and brownish spots, stripes, or hyperpigmented blotches and patches. RCM showed a highly refractive substance with clumpy, dotted, and linear structures inside the papillary dermis. Sequencing identified glycoprotein non-metastatic melanoma protein B (GPNMB) missense mutations [c.393T>G (p.Y131X; NM_001005340.2)] and a frameshift deletion mutation [c.719_720delTG (p.V240fs; NM_001005340.2)]. The ANNOtate VARiation (ANNOVAR) software predicted that c.393T>G is a pathogenic mutation. The literature review found 14 mutations, namely, 5 (35.7%) frameshift mutations, 4 (28.6%) non-sense mutations, 4 (28.6%) missense mutations, and 1 (7.1%) splice site mutation. Blisters and epidermolysis were observed in several cases, but there was no significant association between clinical manifestations and mutations in ACD.Conclusions: This study was the first to combine dermoscopy and RCM to describe ACD. Two GPNMB gene mutations were reported in a Chinese ACD pedigree. The genotype–phenotype correlation was analyzed for the first time; however, there was no significant correlation.

Aim Traditional approaches to ventral hernia repair involve implantation of synthetic mesh (SM), primary suture (PS) repair, and the use of biologic prostheses (BP). A body mass index (BMI) > 30 increases recurrence rates and complications for such repairs. We have begun to use Autologous Fenestrated Cutis Grafts (CG) as an alternative hernia repair. We investigated the impact of obesity on the recurrence and complication rates of CG compared to traditional repairs. Material and Methods A five-surgeon, retrospective study included all ventral/incisional, epigastric and umbilical hernia repairs (SM, PS, and BP from 2015-2020; CG repairs from 2018-2020). Patients with a BMI ≥ 30 were stratified according to surgical approach. Outcomes included recurrence and complication rates. Descriptive statistics for demographics and outcomes were compared and logistic regression performed with p Results A total of 301 hernia repairs were performed (173 CGs, 54 SM, 59 PS, 15 BS). The groups had similar recurrence rates. A significant difference in complications rates did exist (37% CGs, 48.1% SMs, 15.3% PS, 66.7% BP, p Conclusions CG for abdominal wall hernia repair in patients with BMI ≥ 30 is an acceptable hernia repair in obese patients with similar recurrence rates and an acceptable complication profile compared to traditional repairs.

After primary infection, varicella zoster virus (VZV) causes prolonged latent infections that may reactivate, depending on the immunologic status of the host. We present a case of VZV reactivation in a 10-year-old male patient that underwent unrelated peripheral blood stem cell transplantation (uPBSCT) for T-lymphoblastic lymphoma with lymphoma cutis lesions. This patient had a history of herpes zoster involving the right L2-5 dermatome and trigeminal V1 dermatome prior to uPBSCT. Three months post-uPBSCT, the patient’s underlying disease relapsed, and the patient presented with lymphoma cutis lesions. A few days after a skin biopsy was performed to pathologically confirm skin relapse, vesicles appeared only involving the skin areas with lymphoma cutis. This case illustrates how decreased areas of epidermal immune mechanisms may cause atypical presentations of varicella infection.

Background: Exogenous factors (such as sun exposure, smoking habits, and diet) and endogenous (inflammatory status, general diseases) have a direct influence on skin and soft tissue characteristics. The study’s objective was to assess the impact of metabolic syndrome (MS) on characteristics of skin layers in sun-exposed and non-exposed maxillofacial tissues evaluated by high-frequency ultrasound (HFU), as a potential diagnosis and monitoring tool for the aging process. Material and methods: The present study included 102 subjects (24 with MS, 78 without MS). Anthropometric parameters and disease history were recorded, and blood samples were harvested in order to assess biochemical parameters of MS. Sun-exposed skin (zygomatic region) and non-exposed oral mucosa of the lower lip were assessed using HFU (DUB® cutis, Taberna Pro Medicum) with a 22 MHz probe. Results: Patients with cardiac disease had significantly lower values for epidermis density (p = 0.002). Gender was independently linked to the aged dermis depth (p &lt, 0.001), aged dermis no. of px (pixels) (p &lt, 0.001), dermis depth (p &lt, 0.001), dermis no. of px (p &lt, 0.001), and subcutaneous tissue density (p &lt, 0.001). Patients with MS had thinner epidermis (p = 0.008) and thinner aged dermis (p = 0.037) when compared to non-MS subjects. Conclusion: Patients with MS had thinner epidermis and a lower epidermis number of pixels in sun-exposed skin. Women had lower epidermis density and thicker dermis in sun-exposed skin. Our study showed that HFU, as a non-invasive investigation approach, is useful to diagnose and monitor the aging process in skin and oral mucosa, correlated with skin phenotype pathological conditions.

We report an 11-year-old girl who presented with white papules on the dorsal and palmar region of the hands bilaterally. The parents reported that the lesions had appeared four months before and some had resolved spontaneously. The girl was suffering from celiac disease, Down syndrome, and alopecia areata treated with topical corticosteroids. At the first visit, the girl presented with alopecia areata, corticosteroid acne, and a dozen white papules located on the hands. On dermoscopy, a whitish structureless area was seen. Histological examination showed the presence of calcium deposits without tissue damage, thus confirming the diagnosis of milia-like idiopathic calcinosis cutis. At 6-month follow up, the lesions had completely disappeared. Milia-like idiopathic calcinosis cutis is a benign cutaneous disorder consisting of calcium deposits in an apparently undamaged dermis and is typically associated with Down syndrome. Up to a quarter of patients have coexisting syringomas. The milia-like papules tend to self-resolve as patients reach adulthood, so a wait-and-see approach is recommended.

Applying next-generation sequencing to paired skin and marrow biopsies, Delaleu et al describe an entity they term “myelodysplasia cutis,” comprising histologic features of histiocytoid Sweet syndrome in the skin and a clonally related myelodysplasia in the bone marrow. This can be distinguished from forms of histiocytoid Sweet syndrome not associated with myelodysplastic syndromes, as well as classical neutrophilic Sweet syndrome associated with various malignant and nonmalignant diseases and leukemia cutis where the infiltrating cells are myeloblasts.

A dystrophic nail is an alteration of the physical appearance and structural properties of the nail from its shape, color, and texture, which can result from multiple etiologies. Calcinosis cutis is a condition that refers to the calcium deposition in the skin and underlying tissue. A 55-year-old man who presented with a split right thumbnail associated with subungual calcinosis cutis affecting the same digit for a duration of nine years is described. He did not recall trauma to the affected area. Microscopic evaluation of the tissue specimen obtained following a biopsy of the affected digit's nail matrix showed foci of calcium in the dermis. The correlation of his clinical presentation and biopsy findings established a diagnosis of subungual calcinosis cutis. Subungual calcification has been observed in several clinical settings. In addition to subungual calcinosis cutis, it has been noted as a normal finding in elderly individuals. In addition, it has been observed in patients with scleroderma or following trauma to the site. Less commonly, subungual calcification can be associated with idiopathic conditions: calcifying aponeurotic fibroma, digital calcinosis circumscripta, subepidermal calcified nodule, and calcified subungual epidermoid inclusion.

Clinical forms of cutaneous tuberculosis (TB) which is a chronic granulomatous disease, varies by the route of entry into the body, the number of bacilli, its virulence and the immunological response of the body. TB verrucosa cutis (TBVC) occurs in patients who have previously been affected by tuberculosis bacilli with healthy immunity. A 68-year-old male patient was referred to our dermatology outpatient clinic from an external dermatology center with complaint of verrucous plaques on the left temporal region, persisting for two months. After a diagnosis of wart and seborrheic keratosis, cryosurgery and destructive procedures were applied to the lesions of the patient many times. Histopathological examination revealed granulomatous textures classified by infiltration of inflammatory cells around the keratin plugs and giant multinuclear cells in the epithelium sublayer, and positive staining with CD68 was detected in immunohistochemical examination. The patient was diagnosed with TBVC clinically and histopathologically. At the end of the anti-tuberculosis treatment, the lesions largely regressed with postinflammatory hyperpigmentation. Herein, we report a case of TBVC with unusual localization, which was initially misdiagnosed as wart and seborrheic keratosis. This case emphasizes the importance of differential diagnosis

Recent advances in chimeric antigen receptor (CAR) T-cell therapy have demonstrated promising results for diseases ranging from acute lymphoblastic leukemia (ALL) to glioblastoma.1,2 Leukemia cutis is a rare manifestation of leukemia, in which leukemic cells infiltrate the skin; as such, there is a paucity of literature describing the effects of CAR T-cell therapy in the context of leukemia cutis. Here we present a case of B-cell lymphoblastic leukemia cutis flaring and spontaneously resolving following CAR T-cell therapy.

Keratosis pilaris atrophicans faciei (KPAF) is a hereditary follicular disorder, an atrophicans subtype of keratosis pilaris (KP) with a highly elusive diagnosis. Clinically, it presents with follicular, horny papules surrounded by an erythematous halo of the cheeks, forehead, chin and eyebrows, and it is followed by a gradual hair loss on the lateral margins of the eyebrows. The onset is as early as a few months after birth, but it is mainly diagnosed in children and adolescents and it can persist through adulthood. At present, the natural progression of the disease is poorly understood, which makes a correct diagnosis highly unlikely. The aim of the present study was to describe the clinical characteristics of KPAF in patients encountered in daily practice, in order to find common characteristics that may aid in the earlier recognition of the disease. An observational, descriptive, retrospective study was performed on 14 patients diagnosed with KPAF between January 2000 and December 2020. The mean age at diagnosis was 17.04 years and the onset of clinical symptoms appeared at a mean age of 4.85 years. The first clinical symptom was KP involving either the upper or lower limbs, or both. Then, erythema of the face appeared at a mean age of 7.21 years, keratotic papules on the face at a mean age of 8.35 years and, finally, loss of hair on the lateral margins of the eyebrows at a mean age of 14 years. The patients also had concomitant xerosis cutis, multiple mole syndrome, acne, contact dermatitis and Laugier-Hunziker syndrome. Evidence of disease progression, associations, as well as efficacious treatment measures are lacking. An earlier diagnosis potentially allows for a more efficacious, targeted treatment option. Either topical emollients, systemic retinoids or laser therapy may prove effective for each patient individually.

Background Cutis verticis gyrate (CVG) is a rare morphologic syndrome that presents with hypertrophy and folding of the scalp. CVG can be classified into three forms: primary essential, primary non-essential, and secondary. Cerebriform intradermal nevus (CIN) is a rare cause of secondary CVG. We are here to report a rare case of CVG with an underlying CIN and discuss the clinical course, treatment options, and critical screening guidelines for these patients. Case presentation A 25 year-old male patient presented with a chief complaint of generalized hair loss in the scalp parietaloccipital region for a duration of 1 year and the hair loss area was occasionally accompanied by mild itching. The hair loss started gradually and worsened over time. In addition, he had scalp skin folds resembling the ridge and furrow of the cerebral cortex in the parietaloccipital region since birth. Physical examination revealed hypertrophy and formation of folds in the parietal-occipital area, forming 5 to 6 furrows and ridges. The size of the cerebriform mass was about 12.0 cm × 8.5 cm, without other skin lesions. Diffuse non-scarring hair loss was distributed on the posterior-parietal scalp, mid-parietal scalp and superior-occipital scalp. The diseased tissue of the patient's parietaloccipital area was excised under general anesthesia. The postoperative pathological examination of the tissue excised showed that there were dense intradermal melanocytic nevus, so the patient was diagnosed with secondary CVG caused by CIN. At the 2 year follow-up, there were no obvious changes in the lesions. Conclusions CIN must be differentiated from other conditions that manifest as CVG, including primary essential or non-essential CVG and secondary CVG caused by other reasons. Each CIN patient requires a specific decision of whether to excise the lesion surgically or follow a wait-and-see policy, depending on the patient's will and specific condition. Surgical treatment may be performed when there is an aesthetic demand. However, clinical observation and close follow-up is also a good treatment choice for patients with stable disease or mild symptoms.

Made available in DSpace on 2022-04-29T08:45:35Z (GMT). No. of bitstreams: 0 Previous issue date: 2021-05-01 Tuberculosis verrucosa cutis is a rare medical condition that is caused by the inoculation of Mycobacterium tuberculosis into the skin of a previously sensitized individual. This clinical form of tuberculosis corresponds to 1–2% of all cases of tuberculosis and due to the paucibacillary characteristic of the lesions, patients can be misdiagnosed, accounting for the chronification of the skin infection. Herein, we report the case of a 26-year-old male farmer, presenting plaques with verrucosa and hyperkeratosis features in the left thigh and buttocks during 15 years. M. tuberculosis was identified by PCR and the patient was treated with standard anti-tuberculosis drugs, with subsequent improvement of the skin lesions. University of São Paulo Medical School Clinics Hospital São Paulo State University (UNESP) Institute of Biosciences São Paulo State University (UNESP) Institute for Advanced Studies of Ocean Fundação Universitária do ABC (FUABC) ABC School of Medicine University of São Paulo Medical School Laboratory of Pathology of Infectious Diseases São Paulo State University (UNESP) Institute of Biosciences São Paulo State University (UNESP) Institute for Advanced Studies of Ocean

Background: Loss of domain, fascial separation, and wound contamination are all recognized challenges of complex abdominal wall reconstruction. Often, traditional therapies, such as fascial advancement, mesh reinforcement, and the use of bio-prostheses for infection are insufficient. Recently, we have investigated using cutis as an alternative therapy. We present the case of a 61-year old male treated in such a manner. Methods: Our patient presented to our facility with a fascial defect of 30 by 40 cm, and an infected skin graft after undergoing an exploratory laparotomy for a gunshot wound at an outside hospital. During his course, he failed multiple traditional therapies, leaving him with a large open wound, four paired enterocutaneous fistulae, and a cholecystocutaneous fistula. We repaired his fistulae, performed a staged fascial closure, and reinforced it by placing an autograft of de-epithelialized dermis over it, bridging some areas of fascia. Results: The patient had rapid incorporation of his cutis graft, with granulation over the graft within 72 hours. Within three months, all wounds had healed, and the patient had fully recovered. Conclusions: Cutis autograft as a means for reinforcing abdominal wall closure is a versatile tool in the armamentarium of the surgeon to treat complex abdominal wall reconstruction. In the setting of failure of traditional therapies for fascial closure, it can potentially help with simultaneous bridging and reinforcement, demonstrating the strength of this type of repair

Tuberculosis verrucosa cutis (TBVC) is a common paucibacillary form of cutaneous tuberculosis caused by exogenous reinfection in previously sensitized individuals. The typical morphology is usually observed as a single verrucous plaque with inflammatory borders mostly on the hands, knees, ankle, and buttocks; however, several atypical morphologies of the lesions have also been described. TBVC occurring in sporotrichoid pattern is relatively rare. We report a case of a rare sporotrichoid presentation of TBVC in a 38-year-old male patient in the absence of any primary tuberculous focus.

The current prevalence of infections caused by multidrug-resistant (MDR) organisms is a global threat, and thus, the development of new antimicrobial agents with activity against these pathogens is a healthcare priority. Ceftolozane-tazobactam (C/T) is a new combination of a cephalosporin with a β-lactamase inhibitor that shows excellent in vitro activity against a broad spectrum of Enterobacteriaceae and Pseudomonas aeruginosa, including extended spectrum β-lactamase-producing (ESBL) strains and MDR or extensively drug-resistant (XDR) P. aeruginosa. In phase III randomized clinical trials, C/T demonstrated similar efficacy to meropenem for the treatment of complicated intra-abdominal infections (cIAIs) and superior efficacy to levofloxacin for the treatment of complicated urinary tract infections (cUTIs), including pyelonephritis. The drug is generally safe and well tolerated and its PK/PD profile is very favorable. Observational studies with C/T have revealed good efficacy for the treatment of different types of infection caused by MDR or XDR P. aeruginosa, including some that originated from the digestive or urinary tracts. The place of C/T in therapy is not well defined, but its use could be recommended in a carbapenem-sparing approach for the treatment of infections caused by ESBL-producing strains or for the treatment of infections caused by P. aeruginosa if there are no other more favorable therapeutic options. Further clinical experience is needed to position this new antimicrobial drug for the empirical treatment of cIAIs or cUTIs.

Gram-negative complicated urinary tract infections (cUTIs) can have serious consequences for patients and hospitals.To examine the clinical and economic burden attributable to Gram-negative carbapenem-non-susceptible (C-NS; resistant/intermediate) infections compared with carbapenem-susceptible (C-S) infections in 78 US hospitals.All non-duplicate C-NS and C-S urine source isolates were analysed. A subset had principal diagnosis ICD-9-CM codes denoting cUTI. Collection time (3 vs ≥3 days after admission) determined isolate classification as community or hospital onset. Mortality, 30-day re-admissions, length of stay (LOS), hospital cost and net gain/loss in US dollars were determined for C-NS and C-S cases, with the C-NS-attributable burden estimated through propensity score matching. Three subgroups with adequate patient numbers were analysed: cUTI principal diagnosis, community onset; other principal diagnosis, community onset; and other principal diagnosis, hospital onset.The C-NS-attributable mortality risk was significantly higher (58%) for the other principal diagnosis, hospital-onset subgroup alone (odds ratio 1.58, 95% confidence interval 1.14-2.20; P 0.01). The C-NS-attributable risk for 30-day re-admission ranged from 29% to 55% (all P 0.05). The average attributable economic impact of C-NS was 1.1-3.9 additional days LOS (all P 0.05), US$1512-10,403 additional total cost (all P 0.001) and US$1582-11,848 net loss (all P 0.01); overall burden and C-NS-attributable burden were greatest in the other principal diagnosis, hospital-onset subgroup.Greater clinical and economic burden was observed in propensity-score-matched patients with C-NS infections compared with C-S infections, regardless of whether cUTI was the principal diagnosis, and this burden was most severe in hospital-onset infections.

Introduction: Granulomatous dermatoses are group of disorders which are caused by varied etiological agents and includes heterogenous lesions but often share a common histological feature of granuloma formation. Leprosy and cutaneous tuberculosis occupies the major proportion of this category. Leprosy is the most common chronic infectious granulomatous dermatoses caused by mycobacterium leprae. Cutaneous tuberculosis has varied mode of presentation. Materials and Methods: The present study is a one year retrospective study carried out in the Department of Pathology. All the skin biopsies of leprosy cases received in histopathology section from September 2016 to August 2017 were reviewed from the archives of the department. Results: Of 168 skin biopsies, 104 cases were included and remaining 64 cases were excluded. Among 104 cases, 96 cases were leprosy and 8 cases were tuberculosis. It included 73 males and 31 females. Most commonly affected age group was 21-40 years. Majority of the patients were found to have hypopigmented patch. Many of cases were borderline tuberculoid (26 cases) followed by lepromatous leprosy (18 cases). Among the 8 cases of tuberculosis, 4 were lupus vulgaris, 2 were cases of granulomatous chelitis and one cases each of papulonecrotic tuberculid and tuberculosis verrucosa cutis. Conclusion: Diagnosis of leprosy cases should be an integrated approach and includes dermatological, histopathological and microbiological examination. Leprosy is the most common infectious granulomatous dermatitis encountered which was presented clinically with hypopigmented patch. It was found to more common in third and fourth decade of life. This is followed by cutaneous tuberculosis. Keywords: Granulomatous dermatoses, Punch biopsy, Leprosy, Cutaneous tuberculosis, Hypopigmented patch. Introduction Granulomatous dermatoses are group of disorders which are caused by varied etiological agents and includes heterogenous lesions bu

Background Myeloid sarcoma (MS), also known as granulocytic sarcoma or chloroma, is a solid tumor of extramedullary localization composed of malignant primitive myeloid cells. The purpose of the study was to identify clinical and imaging features in a large patient sample. Patients and methods Overall, 71 cases (34 females (47.9%) and 37 males (52.1%) with a median age of 56 (± 16 years) of histopathologically confirmed myeloid sarcoma were included into this study. The underlying hematological disease, occurrence, localizations and clinical symptoms as well as imaging features on computed tomography and magnetic resonance imaging were investigated. Results In 4 cases (5.63%) the manifestation of MS preceded the systemic hematological disease by a mean value of 3.8 ± 2.1 months. In 13 cases, first presentation of MS occurred simultaneously with the initial diagnosis of leukemia, and 51 patients presented MS after the initial diagnosis of the underlying malignancy with a mean latency of 39.8 ± 44.9 SD months. The visceral soft tissue was affected in 26 cases, followed by the cutis/subcutis was affected in 21 cases. Further localizations were bones (n = 13), central nervous system (n = 9), lymph nodes (n = 4) and visceral organs (n = 9). Conclusions MS is a rare complication of several hematological malignancies, predominantly of acute myeloid leukemia, which can affect any part of the body. In most cases it occurs after the diagnosis of the underlying malignancy, and affects frequently the cutis and subcutis.

Painful tumors of the skin present as dermal or subcutaneous nodules. They can originate from several sources: adipose tissue, cartilage degeneration, deposition of bone or calcium, eccrine glands, fibrous tissue, infiltration of benign (endometrium) or malignant (metastatic neoplasm) tissue, muscle, nerve, or vascular structures. Although pathologic evaluation of the lesion is necessary to determine the diagnosis, it is possible to make a reasonable differential diagnosis based on knowledge of prior tumors that have appeared as tender lesions. Two women with painful skin tumors - either osteoma cutis or an organizing thrombus - are described. Based on our clinical experience and review of the literature, 25 painful skin tumors were identified: chondrodermatitis nodularis helicis, angioendotheliomatosis, leiomyoma, metastases, hidradenoma, osteoma cutis, glomus tumor, fibromyxoma, leiomyosarcoma, eccrine angiomatous hamartoma, Dercum's disease, peizogenic pedal papule, neurilemmoma, angiolipoma, neuroma, dermatofibroma, granular cell tumor, endometriosis, thrombus, scar, blue rubber bleb nevus, angioma, calcinosis cutis, and keloid. An acronym - inspired by Charlotte's Web, a book that many children have read - that can be used as a memory aid for recalling the list of painful skin tumors is introduced: "CALM HOG FLED PEN AND GETS BACK".