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Journal of the American Podiatric... 2023Precalcaneal congenital fibrolipomatous hamartomas are rare benign lesions that present in infancy. Lesions typically appear as unilateral or bilateral skin-colored...
Precalcaneal congenital fibrolipomatous hamartomas are rare benign lesions that present in infancy. Lesions typically appear as unilateral or bilateral skin-colored asymptomatic subcutaneous nodules on the precalcaneal plantar heel. Diagnosis is clinical, and operative intervention is not indicated unless lesions are symptomatic. We report two cases of subcutaneous plantar nodules diagnosed as precalcaneal congenital fibrolipomatous hamartomas. The aim is to raise awareness of this rare diagnosis and emphasize its benign nature and conservative management.
Topics: Humans; Heel; Skin; Hamartoma; Diagnosis, Differential
PubMed: 37134054
DOI: 10.7547/21-093 -
Journal Der Deutschen Dermatologischen... May 2023Superficial leiomyosarcomas (LMS) are rare skin cancers (2-3% of cutaneous sarcomas) that originate from dermally located hair follicle muscles, dartos or areolar...
Superficial leiomyosarcomas (LMS) are rare skin cancers (2-3% of cutaneous sarcomas) that originate from dermally located hair follicle muscles, dartos or areolar muscles (cutaneous/dermal LMS), or from vascular muscle cells of the subcutaneous adipose tissue (subcutaneous LMS). These superficial LMS are distinct from LMS of the deep soft tissues. Leiomyosarcomas are typically localized at the lower extremities, trunk or capillitium, and present as painful, erythematous to brownish nodules. Diagnosis is made by histopathology. The treatment of choice for primary LMS is complete (R0) microscopically controlled excision, with safety margins of 1 cm in dermal LMS, and 2 cm in subcutaneous LMS, if possible. Non-resectable or metastatic LMS require individual treatment decisions. After R0 resection with 1 cm safety margins, the local recurrence rate of dermal LMS is very low, and metastasis is very rare. Subcutaneous LMS, very large, or incompletely excised LMS recur and metastasize more frequently. For this reason, clinical follow-up examinations are recommended every six months for cutaneous LMS, and every three months for subcutaneous LMS within the first two years (in subcutaneous LMS including locoregional lymph node sonography). Imaging such as CT/MRI is indicated only in primary tumors with special features, recurrences, or already metastasized tumors.
Topics: Humans; Leiomyosarcoma; Skin; Skin Neoplasms; Subcutaneous Tissue; Subcutaneous Fat
PubMed: 36999582
DOI: 10.1111/ddg.14989 -
Annals of Diagnostic Pathology Jun 2019Cutaneous Rosai-Dorfman (CRD) disease is a rare entity that is characterized by histiocytic proliferation in the skin. The disease has been reported to exhibit different... (Review)
Review
BACKGROUND
Cutaneous Rosai-Dorfman (CRD) disease is a rare entity that is characterized by histiocytic proliferation in the skin. The disease has been reported to exhibit different clinical profiles and occasionally confounding histologic features that may be challenging for a correct diagnosis. The purpose of this study was to assess the pathobiology and highlight the variance in clinical and histologic spectrum of the disease based on published literature.
METHODS
A PUBMED search was performed to retrieve cases of cutaneous Rosai-Dorfman disease published in the literature. A PRISMA-guided review of the included articles was performed. Three interesting case reports from our institution are also described.
RESULTS
A total of 263 patients, of which 220 with purely cutaneous disease were identified in 152 studies. The mean age at presentation was 45.2 years with a slight female preponderance, and East-Asian, Caucasian and African populations being largely affected. Majority of the patients presented with multiple lesions, predominantly on limbs and comprising of nodules, plaques and papules that were occasionally pigmented. The classis histologic findings included large foamy histiocytes, exhibiting emperipolesis and a specific immunophenotype (S100+, CD68+, CD1a-). Inconspicuous emperipolesis, fibrosis, increased vascularity, neutrophilic microabscesses and concurrent langerhans cell histiocytosis and lymphoma in few cases highlighted the importance of immunohistochemistry for a definitive diagnosis. The disease shows an indolent and benign course with excision and chemotherapy being most effective for extensive and refractory cases.
CONCLUSIONS
This review of largest cohort of CRD patients provides an updated insight into the clinicopathologic features with possible diagnostic pitfalls and effective therapeutic options that should be useful in diagnosis, management and future research opportunities.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Humans; Immunophenotyping; Male; Middle Aged; Skin; Skin Diseases; Young Adult
PubMed: 31108464
DOI: 10.1016/j.anndiagpath.2019.02.004 -
Frontiers in Immunology 2019Autoinflammatory diseases include disorders with a monogenic cause and also complex conditions associated to polygenic or multifactorial factors. An increased number of... (Review)
Review
Autoinflammatory diseases include disorders with a monogenic cause and also complex conditions associated to polygenic or multifactorial factors. An increased number of both monogenic and polygenic autoinflammatory conditions have been identified during the last years. Although skin manifestations are often predominant in monogenic autoinflammatory diseases, clinical and histopathological information regarding their dermatological involvement is still scarce. Monogenic autoinflammatory diseases with cutaneous expression can be classified based on the predominant lesion: (1) maculopapular rashes or inflammatory plaques; (2) urticarial rashes; (3) pustular, pyogenic or neutrophilic dermatosis-like rashes; (4) panniculitis or subcutaneous nodules; (5) vasculitis or vasculopathy; (6) hyperkeratotic lesions; (7) hyperpigmented lesions; (8) bullous lesions; and (9) aphthous lesions. By using this classification, this review intends to provide clinical and histopathological knowledge about cutaneous involvement in monogenic autoinflammatory diseases.
Topics: Autoimmune Diseases; Autoimmunity; Biomarkers; Biopsy; Dermatitis; Diagnosis, Differential; Genetic Association Studies; Genetic Predisposition to Disease; Humans; Phenotype; Skin; Symptom Assessment
PubMed: 31736939
DOI: 10.3389/fimmu.2019.02448 -
Journal of Investigative Medicine High... 2021Bullous pemphigoid (BP) is the most prevalent autoimmune blistering skin disease in the Western world affecting mainly the elderly population. The diagnosis is based on...
Bullous pemphigoid (BP) is the most prevalent autoimmune blistering skin disease in the Western world affecting mainly the elderly population. The diagnosis is based on clinical assessment along with specific immunopathologic findings on skin biopsy. Risk factors include genetic factors, environmental exposures, and several infections including hepatitis B, hepatitis C, , , and cytomegalovirus. A variety of drugs have been associated with BP including but not limited to dipeptidyl peptidase-4 inhibitors, loop diuretics, spironolactone, and neuroleptics. Associated neurologic disorders (dementia, Parkinson's disease, bipolar disorder, previous stroke history, and multiple sclerosis) have also been described. Common clinical presentation consists of extremely pruritic inflammatory plaques that resemble eczematous dermatitis or urticaria, followed by formation of tense bullae with subsequent erosions. Typical distribution involves the trunk and extremities. Mucosa is typically spared affecting only 10% to 30% of patients. Several unusual clinical presentations of BP have been described such as nonbullous forms with erythematous excoriated papules, plaques, and nodules. Other reported findings include urticarial lesions, prurigo-like nodules, multiple small vesicles resembling dermatitis herpetiformis or pompholyx, vegetating and purulent lesions localized in intertriginous areas, and even exfoliative erythroderma. Recognition and management of such cases can present a diagnostic challenge to clinicians. In this article, we describe another variant which to our knowledge is the first case to present with a cellulitis-like presentation in a patient with a known history of BP.
Topics: Aged; Blister; Cellulitis; Humans; Pemphigoid, Bullous; Skin
PubMed: 33847152
DOI: 10.1177/23247096211008585 -
The British Journal of Dermatology Oct 2019Acne vulgaris is a highly prevalent inflammatory skin disorder with a complex pathogenesis, characterized by comedones, papules, pustules and nodules. Familial... (Review)
Review
BACKGROUND
Acne vulgaris is a highly prevalent inflammatory skin disorder with a complex pathogenesis, characterized by comedones, papules, pustules and nodules. Familial preponderance clearly indicates a genetic basis for acne vulgaris, but until recently solid genetic associations were lacking.
RESULTS
The advent of high-resolution genotyping array technologies has allowed for large-scale studies with both family-based and cross-sectional designs. These studies have revealed genetic loci encompassing genes that could be active in biological pathways and processes underlying acne vulgaris. However, specific functional consequences of those variants remain elusive. In parallel, investigations into rare disorders and syndromes that incorporate features of acne or acne-like lesions have recently accelerated our understanding of disease pathogenesis. The genes revealed by these rare disorders highlight mechanisms cardinal for pilosebaceous biology and therefore anchor our insights from genetic association studies for acne vulgaris.
CONCLUSIONS
The next phase of research will require more in-depth mechanistic investigations of loci and genes implicated in acne phenotypes to define the key molecular players driving the disorder. Concurrently, new treatments for acne vulgaris could be developed by dissecting the candidate molecular pathways to identify druggable targets.
Topics: Acne Vulgaris; Dermatologic Agents; Genetic Association Studies; Genetic Loci; Genetic Predisposition to Disease; Humans; Medical History Taking; Molecular Targeted Therapy; Precision Medicine; Signal Transduction; Skin
PubMed: 30854635
DOI: 10.1111/bjd.17721 -
Clinics in Dermatology 2023Hidradenitis suppurativa is a chronic, inflammatory, recurrent, and debilitating disease of the hair follicle. It presents with painful, deep-seated, inflamed lesions,... (Review)
Review
Hidradenitis suppurativa is a chronic, inflammatory, recurrent, and debilitating disease of the hair follicle. It presents with painful, deep-seated, inflamed lesions, such as nodules, abscesses, sinus tracts, and fistulas, generally located in the main folds. Clinical severity assessment alone can be reductive; noninvasive skin imaging technologies, such as ultrasound, magnetic resonance imaging, medical infrared thermography, computed tomography, and positron emission tomography, provide subclinical anatomical and functional details. These instrumental techniques confirm the clinical suspect, thus allowing an earlier diagnosis and improving patients' clinical evaluation, staging, and management. Finally, they might be helpful for preoperative mapping. In this contribution, we provide an overview of the current knowledge about noninvasive skin imaging techniques with a particular focus on ultrasonography, which is widely used thanks to its precision, versatility, and availability.
Topics: Humans; Hidradenitis Suppurativa; Inflammation; Magnetic Resonance Imaging; Skin; Ultrasonography
PubMed: 37652192
DOI: 10.1016/j.clindermatol.2023.08.023 -
Dermatologic Therapy Jul 2018Pregnancy-associated Sweet's syndrome is a rare occurrence (2%), with good prognosis, spontaneous resolution after delivery, and not increased infant morbidity and... (Review)
Review
Pregnancy-associated Sweet's syndrome is a rare occurrence (2%), with good prognosis, spontaneous resolution after delivery, and not increased infant morbidity and mortality. However, differential diagnosis is not easy for physician not familiar with skin lesions. Systemic involvement, even though unusual, might occur in nearly every organ of the body, including pericardium, myocardium, and placenta, as well as one report of early fetal miscarriage, questioning the possibility of risks underestimation. We present two further cases, one occurred in a 31-year-old woman at 26 weeks of gestation and the other on a 26-year-old woman at 24 weeks of gestation, primigravidae. Both presented with tender papules and nodules on their face and upper body parts. Laboratory examinations and skin biopsy histology were pathognomonic. Monitoring of general maternal and fetal conditions showed no signs of sufferance, but the decision to accelerate skin symptoms release, being time to delivery quite distant, challenge the treatment options. There are no recommended treatments for Sweet syndrome and the choice is very limited during pregnancy. A short course of oral steroids was very effective, with lesions healing in few days, no relapses or fetal complications. When pregnant patients exhibit fever, neutrophilia, arthralgia or myalgia, and tender erythematous plaques or nodules, Sweet syndrome should be considered. The trained dermatologist is in the leading position to address the differential diagnosis, reassure the patient, and avoid complications, even if they are rare.
Topics: Adult; Biopsy; Female; Glucocorticoids; Humans; Prednisone; Pregnancy; Pregnancy Complications; Remission Induction; Skin; Sweet Syndrome; Treatment Outcome
PubMed: 30043469
DOI: 10.1111/dth.12619 -
The Journal of Family Practice Nov 2023The location of the nodules and the patient's history were important diagnostic clues. The punch biopsy confirmed our suspicions.
The location of the nodules and the patient's history were important diagnostic clues. The punch biopsy confirmed our suspicions.
Topics: Humans; Leg; Skin; Biopsy
PubMed: 37976334
DOI: 10.12788/jfp.0687 -
The American Journal of Emergency... Sep 2019Sweet's syndrome (SS), also known as acute febrile neutrophilic dermatosis, is a rare condition characterized by recurrent erythematous skin lesions. Skin lesions appear...
BACKGROUND
Sweet's syndrome (SS), also known as acute febrile neutrophilic dermatosis, is a rare condition characterized by recurrent erythematous skin lesions. Skin lesions appear as papules, nodules and plaques located on the upper extremity, trunk, neck and face.
CASE REPORT
A 72-year-old male patient presented to the emergency department with a 10-day history of generalized rash, generalized muscle and joint pain and high fever. He had a history of upper respiratory tract infection. He presented with painful erythematous plaques on both lower and upper extremities and the trunk as well as serohemorrhagic bullous lesions on the feet. The laboratory results revealed WBC count of 20.6 × 10/mm (76.9% neutrophils), CRP (c-reactive protein) of 33 mg/L and erythrocyte sedimentation of 110/h. The patient was referred to a dermatologist with prediagnosis of SS due to the presence of typical painful skin lesions, high fever and neutrophilic leukocytosis. A systemic corticosteroid therapy was initiated. The diagnosis for SS was confirmed after the skin biopsy revealed the presence of dense dermal infiltrate of neutrophils and leukocytoclasis in the upper dermis. The patient responded rapidly to corticosteroids and the skin lesions improved.
CONCLUSION
We reported this case as it was a rare life-threatening dermatosis diagnosed in the emergency department, which is generally difficult to diagnose therein, and the skin lesions appeared on the lower extremities.
Topics: Adrenal Cortex Hormones; Aged; Biopsy; Humans; Male; Skin; Sweet Syndrome
PubMed: 31280940
DOI: 10.1016/j.ajem.2019.06.012