ABSTRACT
Stiff skin syndrome (SSS) is a rare, scleroderma-like condition that is commonly characterised by stony hard skin and limited joint mobility, in the absence of visceral involvement or immunologic abnormalities. Depending on the distribution of the disease, this disorder can be further categorised into classic (widespread) SSS or its newly described segmental variant. Additional features of this syndrome may include hypertrichosis, lipodystrophy, dysmetria and scoliosis. In this report, we present the case of a patient with segmental SSS and we briefly review the current literature about the topic.
Subject(s)
Contracture/diagnosis , Contracture/therapy , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/therapy , Contracture/complications , Contracture/etiology , Dermatitis, Atopic , Disease Progression , Humans , Risk Assessment , Skin Diseases, Genetic/complications , Skin Diseases, Genetic/etiologyABSTRACT
Erythema papulatum centrifugum (EPC), also known as erythema papulosa semicircularis recidivans (EPSR), is distinct from eczema and other well-described figurate erythemas characterised by annular erythematous lesions. We report 7 cases of EPC and propose new diagnostic criteria including the following: (i) EPC is characterised by single or multiple recurrent expanding annular or semi annular erythema with central regression, surrounded by tiny red papules; (ii) the lesions regularly relapse and resolve; (iii) the histopathologic feature shows superficial perivascular inflammation with or without mild inflammation around sweat glands in the mid dermis and (iv) patients lack other associated cutaneous or internal abnormalities.
Subject(s)
Erythema/etiology , Erythema/pathology , Skin Diseases, Genetic/etiology , Skin Diseases, Genetic/pathology , Adult , Erythema/therapy , Female , Humans , Skin Diseases, Genetic/therapyABSTRACT
The coronavirus disease-19 (COVID-19) has spread over many countries and regions since the end of 2019, becoming the most severe public health event at present. Most of the critical cases developed multiple organ dysfunction, including acute kidney injury (AKI). Cytokine storm syndrome (CSS) may complicate the process of severe COVID-19 patients. This manuscript reviews the different aspects of blood purification in critically ill patients with AKI and increased inflammatory factors, and examines its potential role in severe COVID-19 treatment. Continuous renal replacement therapy (CRRT) has been practiced in many sepsis patients with AKI. Still, the timing and dosing need further robust evidence. In addition to the traditional CRRT, the high-throughput membrane with adsorption function and cytokine adsorption column are two representatives of recently emerging novel membrane technologies. Their potential in removing inflammatory factors and other toxins prospects for the treatment of severe COVID-19.
Subject(s)
Betacoronavirus , Calcinosis/therapy , Coronavirus Infections/therapy , Cytokines , Heart Valve Diseases/therapy , Hypotrichosis/therapy , Pneumonia, Viral/therapy , Renal Replacement Therapy , Skin Diseases, Genetic/therapy , COVID-19 , Calcinosis/etiology , Coronavirus Infections/complications , Critical Illness , Heart Valve Diseases/etiology , Humans , Hypotrichosis/etiology , Pandemics , Pneumonia, Viral/complications , SARS-CoV-2 , Skin Diseases, Genetic/etiologyABSTRACT
AIM: Cutaneous bone formation is an uncommon lesion of the skin. It may be primary or secondary. Secondary lesions are mostly associated with melanocytic nevi. Although many different theories have been proposed to explain the etiology, extraskeletal bone formation is complex and poorly understood phenomenon.Here the authors report a series of melanocytic nevi with cutaneous bone formation and the authors described morphologic and clinicopathologic features such as age, sex, location, focus number and size of the lesion. MATERIAL AND METHOD: Through a single center, this retrospective study presents total number of 20 patients with melanocytic nevus with or without osseous metaplasia. Histologic and clinicopathologic features such as age, sex, location, focus, and size of lesion were compared. RESULTS: Lesions were identified in 10 female patients. All of the cases were seen in the head and neck region such as face, forehead, eyebrow, lip, and neck and most of them were solitary. The nevi were usually associated with the single focus of ossification. Most of patients (50%) had acne symptoms and treatment anamnesis. Granulomatous dermal inflammation was seen in 2 patients. There was no difference in nevus morphology and the size of the nevi between the osteonevi and the other types of nevi. CONCLUSION: In conclusion, this study revealed that although it is rare it has distinctive features such as female patients, face location, and acne anamnesis. Therefore it may be speculated that the osteogenic factors may be involved with inflammatory-induced metaplastic ossification and tend to be related female sex.
Subject(s)
Bone Diseases, Metabolic/etiology , Nevus, Pigmented/complications , Ossification, Heterotopic/etiology , Skin Diseases, Genetic/etiology , Skin Neoplasms/complications , Adult , Female , Humans , Metaplasia , Middle Aged , Retrospective Studies , Skin Neoplasms/pathologyABSTRACT
Elastic fibers provide reversible elasticity to the large arteries and are assembled during development when hemodynamic forces are increasing. Mutations in elastic fiber genes are associated with cardiovascular disease. Mice lacking expression of the elastic fiber genes elastin ( Eln-/-), fibulin-4 ( Efemp2-/-), or lysyl oxidase ( Lox-/-) die at birth with severe cardiovascular malformations. All three genetic knockout models have elastic fiber defects, aortic wall thickening, and arterial tortuosity. However, Eln-/- mice develop arterial stenoses, while Efemp2-/- and Lox-/- mice develop ascending aortic aneurysms. We performed comparative gene array analyses of these three genetic models for two vascular locations and developmental stages to determine differentially expressed genes and pathways that may explain the common and divergent phenotypes. We first examined arterial morphology and wall structure in newborn mice to confirm that the lack of elastin, fibulin-4, or lysyl oxidase expression provided the expected phenotypes. We then compared gene expression levels for each genetic model by three-way ANOVA for genotype, vascular location, and developmental stage. We found three genes upregulated by genotype in all three models, Col8a1, Igfbp2, and Thbs1, indicative of a common response to severe elastic fiber defects in developing mouse aorta. Genes that are differentially regulated by vascular location or developmental stage in all three models suggest mechanisms for location or stage-specific disease pathology. Comparison of signaling pathways enriched in all three models shows upregulation of integrins and matrix proteins involved in early wound healing, but not of mature matrix molecules such as elastic fiber proteins or fibrillar collagens.
Subject(s)
Aorta/embryology , Aorta/physiopathology , Elastic Tissue/physiopathology , Gene Expression Regulation, Developmental , Animals , Animals, Newborn , Aorta/growth & development , Aortic Aneurysm/etiology , Aortic Aneurysm/genetics , Arteries/abnormalities , Collagen Type VIII/genetics , Disease Models, Animal , Elastin/genetics , Extracellular Matrix Proteins/genetics , Female , Insulin-Like Growth Factor Binding Protein 2/genetics , Joint Instability/etiology , Joint Instability/genetics , Mice, Knockout , Oligonucleotide Array Sequence Analysis/methods , Protein-Lysine 6-Oxidase/genetics , Skin Diseases, Genetic/etiology , Skin Diseases, Genetic/genetics , Thrombospondin 1/genetics , Vascular Malformations/etiology , Vascular Malformations/geneticsABSTRACT
In autosomal dominant skin disorders, the well-known type 1 segmental mosaicism reflects heterozygosity for a postzygotic new mutation. By contrast, type 2 segmental mosaicism originates in a heterozygous embryo from an early postzygotic mutational event giving rise to loss of the corresponding wild-type allele, which results in a pronounced segmental involvement being superimposed on the ordinary, non-segmental phenotype. Today, this concept has been proven by molecular analysis in many cutaneous traits. The purpose of this review was to seek publications of cases suggesting an extracutaneous manifestation of type 2 segmental mosaicism. Case reports documenting a pronounced extracutaneous segmental involvement were collected from the literature available in PubMed and from personal communications to the author. Pertinent cases are compared to the description of cutaneous segmental mosaicism of type 1 or type 2 as reported in a given trait. In total, reports suggesting extracutaneous type 2 segmental mosaicism were found in 14 different autosomal dominant skin disorders. In this way, clinical evidence is accumulated that extracutaneous type 2 segmental mosaicism does likewise occur in many autosomal dominant skin disorders. So far, however, molecular proof of this particular form of mosaicism is lacking. The present review may stimulate readers to inform colleagues of other specialties on this new concept, in order to initiate further research in this particular field of knowledge that has important implications for diagnosis, treatment and genetic counselling.
Subject(s)
Bone Diseases/genetics , Connective Tissue Diseases/genetics , Mosaicism , Neoplastic Syndromes, Hereditary/genetics , Skin Diseases, Genetic/genetics , Skin Neoplasms/genetics , Vascular Diseases/genetics , Dermatology , Glomus Tumor/genetics , Humans , Paraganglioma, Extra-Adrenal/genetics , Skin Diseases, Genetic/etiologyABSTRACT
Annular lesions can present in a variety of diseases. Knowledge of the physical appearance and history of presentation of these skin findings can help in the diagnosis. A pruritic, annular, erythematous patch that grows centrifugally should prompt evaluation for tinea corporis. Tinea corporis may be diagnosed through potassium hydroxide examination of scrapings. Recognizing erythema migrans is important in making the diagnosis of Lyme disease so that antibiotics can be initiated promptly. Plaque psoriasis generally presents with sharply demarcated, erythematous silver plaques. Erythema multiforme, which is due to a hypersensitivity reaction, presents with annular, raised lesions with central clearing. Lichen planus characteristically appears as planar, purple, polygonal, pruritic papules and plaques. Nummular eczema presents as a rash composed of coin-shaped papulovesicular erythematous lesions. Treatment is aimed at reducing skin dryness. Pityriasis rosea presents with multiple erythematous lesions with raised, scaly borders, and is generally self-limited. Urticaria results from the release of histamines and appears as well-circumscribed, erythematous lesions with raised borders and blanched centers. Annular lesions occur less commonly in persons with fixed drug eruptions, leprosy, immunoglobulin A vasculitis, secondary syphilis, sarcoidosis, subacute cutaneous lupus erythematosus, and granuloma annulare.
Subject(s)
Erythema , Patient Care Management/methods , Skin Diseases, Genetic , Skin Diseases/diagnosis , Diagnosis, Differential , Erythema/diagnosis , Erythema/etiology , Erythema/physiopathology , Erythema/therapy , Humans , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/etiology , Skin Diseases, Genetic/physiopathology , Skin Diseases, Genetic/therapyABSTRACT
LEARNING OBJECTIVES: At the conclusion of this learning activity, physician participants should be able to assess their own diagnostic and patient management skills and use the results of this exercise to help determine personal learning needs. Instructions: In answering each question, refer to the specific directions provided. Because it is often necessary to provide information occurring later in a series that give away answers to earlier questions, please answer the questions in each series in sequence.
Subject(s)
Erythema/diagnosis , Erythema/etiology , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/etiology , Tick Bites/complications , Tick-Borne Diseases/diagnosis , Ticks/classification , Animals , Diagnosis, Differential , Female , Humans , Lyme Disease/diagnosis , Middle Aged , Pennsylvania , Tick-Borne Diseases/etiologySubject(s)
Bone Diseases, Metabolic/pathology , Lymphoma, B-Cell, Marginal Zone/diagnosis , Lymphoma, T-Cell, Cutaneous/pathology , Ossification, Heterotopic/pathology , Skin Diseases, Genetic/pathology , Skin Neoplasms/pathology , Bone Diseases, Metabolic/diagnosis , Bone Diseases, Metabolic/etiology , Congo Red/metabolism , Female , Humans , Lymphoma, B-Cell, Marginal Zone/complications , Middle Aged , Ossification, Heterotopic/diagnosis , Ossification, Heterotopic/etiology , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/etiology , Staining and Labeling/methods , Syndecan-1/metabolismSubject(s)
Skin Abnormalities/pathology , Torso/pathology , Vasculitis, Leukocytoclastic, Cutaneous/pathology , Aged , Dapsone/therapeutic use , Erythema/diagnosis , Erythema/etiology , Humans , Leprostatic Agents , Male , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/etiology , Treatment Outcome , Vasculitis, Leukocytoclastic, Cutaneous/diagnosis , Vasculitis, Leukocytoclastic, Cutaneous/drug therapyABSTRACT
Cutaneous amyloidosis is a rare disease characterized by the deposition of amyloid in the dermis. It can be primary or secondary, depending on associated diseases. It has been linked to various autoimmune diseases, including primary biliary cirrhosis. We present the case of a patient with an autoimmune hepatitis-primary biliary cirrhosis overlap syndrome with concomitant cutaneous amyloidosis, a very unusual association, and discuss similar cases and possible pathophysiological implications.
Subject(s)
Amyloidosis, Familial/etiology , Autoimmunity , Hepatitis, Autoimmune/complications , Liver Cirrhosis, Biliary/complications , Skin Diseases, Genetic/etiology , Adult , Amyloidosis, Familial/diagnosis , Amyloidosis, Familial/immunology , Biopsy , Diagnosis, Differential , Hepatitis, Autoimmune/diagnosis , Hepatitis, Autoimmune/immunology , Humans , Liver/pathology , Liver Cirrhosis, Biliary/diagnosis , Liver Cirrhosis, Biliary/immunology , Male , Skin/pathology , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/immunology , SyndromeSubject(s)
Mucopolysaccharidosis II/diagnosis , Skin Diseases, Genetic/diagnosis , Skin Diseases, Metabolic/diagnosis , Arm , Back , Child, Preschool , Humans , Male , Mucopolysaccharidosis II/complications , Mucopolysaccharidosis II/pathology , Skin Diseases, Genetic/etiology , Skin Diseases, Genetic/pathology , Skin Diseases, Metabolic/etiology , Skin Diseases, Metabolic/pathology , ThoraxSubject(s)
Bone Diseases, Metabolic/pathology , Lichen Planus/pathology , Ossification, Heterotopic/pathology , Scalp Dermatoses/pathology , Scalp/pathology , Skin Diseases, Genetic/pathology , Alopecia/etiology , Alopecia/pathology , Bone Diseases, Metabolic/drug therapy , Bone Diseases, Metabolic/etiology , Clobetasol/therapeutic use , Female , Glucocorticoids/therapeutic use , Humans , Hydroxychloroquine/therapeutic use , Lichen Planus/complications , Lichen Planus/drug therapy , Middle Aged , Ossification, Heterotopic/drug therapy , Ossification, Heterotopic/etiology , Scalp/drug effects , Scalp Dermatoses/complications , Scalp Dermatoses/drug therapy , Skin Diseases, Genetic/drug therapy , Skin Diseases, Genetic/etiology , Treatment OutcomeABSTRACT
Dissecting cellulitis (DC) also referred to as to as perifolliculitis capitis abscedens et suffodiens (Hoffman) manifests with perifollicular pustules, nodules, abscesses and sinuses that evolve into scarring alopecia. In the U.S., it predominantly occurs in African American men between 20-40 years of age. DC also occurs in other races and women more rarely. DC has been reported worldwide. Older therapies reported effective include: low dose oral zinc, isotretinoin, minocycline, sulfa drugs, tetracycline, prednisone, intralesional triamcinolone, incision and drainage, dapsone, antiandrogens (in women), topical clindamycin, topical isotretinoin, X-ray epilation and ablation, ablative C02 lasers, hair removal lasers (800nm and 694nm), and surgical excision. Newer treatments reported include tumor necrosis factor blockers (TNFB), quinolones, macrolide antibiotics, rifampin, alitretinoin, metronidazole, and high dose zinc sulphate (135-220 mg TID). Isotretinoin seems to provide the best chance at remission, but the number of reports is small, dosing schedules variable, and the long term follow up beyond a year is negligible; treatment failures have been reported. TNFB can succeed when isotretinoin fails, either as monotherapy, or as a bridge to aggressive surgical treatment, but long term data is lacking. Non-medical therapies noted in the last decade include: the 1064 nm laser, ALA-PDT, and modern external beam radiation therapy. Studies that span more than 1 year are lacking. Newer pathologic hair findings include: pigmented casts, black dots, and "3D" yellow dots. Newer associations include: keratitis-ichthyosis-deafness syndrome, Crohn disease and pyoderma gangrenosum. Older associations include arthritis and keratitis. DC is likely a reaction pattern, as is shown by its varied therapeutic successes and failures. The etiology of DC remains enigmatic and DC is distinct from hidradenitis suppurativa, which is shown by their varied responses to therapies and their histologic differences. Like HS, DC likely involves both follicular dysfunction and an aberrant cutaneous immune response to commensal bacteria, such as coagulase negative staphylococci. The incidence of DC is likely under-reported. The literature suggests that now most cases of DC can be treated effectively. However, the lack of clinical studies regarding DC prevents full understanding of the disease and limits the ability to define a consensus treatment algorithm.
Subject(s)
Cellulitis/etiology , Cellulitis/therapy , Scalp Dermatoses/etiology , Scalp Dermatoses/therapy , Skin Diseases, Genetic/etiology , Skin Diseases, Genetic/therapy , Acitretin/therapeutic use , Alitretinoin , Anti-Bacterial Agents/therapeutic use , Cellulitis/diagnosis , Cellulitis/history , Dermatologic Agents/therapeutic use , Diagnosis, Differential , Estrogens/therapeutic use , Ethinyl Estradiol/therapeutic use , Hidradenitis Suppurativa/diagnosis , Hidradenitis Suppurativa/etiology , Hidradenitis Suppurativa/therapy , History, 20th Century , Humans , Laser Therapy , Lymphotoxin-alpha/therapeutic use , Phototherapy , Radiotherapy , Scalp Dermatoses/diagnosis , Scalp Dermatoses/history , Skin Diseases, Genetic/diagnosis , Skin Diseases, Genetic/history , Tretinoin/therapeutic use , Zinc/therapeutic useABSTRACT
Cutaneous findings are not uncommonly a concomitant finding in patients afflicted with gastrointestinal (GI) diseases. The dermatologic manifestations may precede clinically evident GI disease. Part I of this 2-part CME review focuses on dermatologic findings as they relate to hereditary and nonhereditary polyposis disorders and paraneoplastic disorders. A number of hereditary GI disorders have an increased risk of colorectal carcinomas. These disorders include familial adenomatous polyposis, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Each disease has its own cutaneous signature that aids dermatologists in the early diagnosis and detection of hereditary GI malignancy. These disease processes are associated with particular gene mutations that can be used in screening and to guide additional genetic counseling. In addition, there is a group of hamartomatous syndromes, some of which are associated with phosphatase and tensin homolog (PTEN) gene mutations, which present with concurrent skin findings. These include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Cronkhite-Canada syndrome. Finally, paraneoplastic disorders are another subcategory of GI diseases associated with cutaneous manifestations, including malignant acanthosis nigricans, Leser-Trélat sign, tylosis, Plummer-Vinson syndrome, necrolytic migratory erythema, perianal extramammary Paget disease, carcinoid syndrome, paraneoplastic dermatomyositis, and paraneoplastic pemphigus. Each of these disease processes have been shown to be associated with an increased risk of GI malignancy. This underscores the important role of dermatologists in the diagnosis, detection, monitoring, and treatment of these disorders while consulting and interacting with their GI colleagues.
Subject(s)
Gastrointestinal Diseases/complications , Gastrointestinal Neoplasms/complications , Skin Diseases, Genetic/etiology , Acanthosis Nigricans/genetics , Adenomatous Polyposis Coli/genetics , Carcinoma, Basal Cell/genetics , Colorectal Neoplasms/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/etiology , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , Dermatomyositis/genetics , Gastrointestinal Diseases/genetics , Gastrointestinal Neoplasms/pathology , Hamartoma Syndrome, Multiple/diagnosis , Hamartoma Syndrome, Multiple/genetics , Histiocytoma, Benign Fibrous/genetics , Humans , Hypotrichosis/genetics , Intestinal Polyposis/genetics , Malignant Carcinoid Syndrome/genetics , Mutation , Necrolytic Migratory Erythema/diagnosis , Necrolytic Migratory Erythema/genetics , PTEN Phosphohydrolase/genetics , Paraneoplastic Syndromes/complications , Paraneoplastic Syndromes/genetics , Peutz-Jeghers Syndrome/genetics , Skin Neoplasms/genetics , Skin Neoplasms/secondaryABSTRACT
BACKGROUND: The authors investigated the correlation of protan and tritan color vision with disease characteristics in Leber hereditary optic neuropathy (LHON). The authors also characterized the therapeutic potential of idebenone in protecting patients from developing dyschromatopsia in LHON. METHODS: Color contrast data of 39 LHON patients participating in a randomized, double-blind placebo-controlled intervention study were evaluated. Patients reported disease onset <5 years before enrolment and were genetically confirmed. Protan and tritan color contrast sensitivity was measured using a computer graphics method in patients receiving idebenone (Catena; 900 mg/d; N = 28) or placebo (N = 11) for 6 months. RESULTS: Mean age of patients was 28.1 years, 87.2% were men, 76.9% carried the m11778G>A mutation, and mean duration since onset was 2 years. Assessing protan and tritan color vision at baseline revealed a high degree of color confusion even in young patients (<25 years) and with a short history of disease (<1 year). Treatment with idebenone improved tritan color vision compared with placebo (P = 0.008 at week 24); a similar trend was seen for protan. The effect of idebenone was most prominent in patients with discordant visual acuity (interocular difference of logMAR >0.2). In this subgroup, the treatment effect at week 24 was 20.4% (P = 0.005) in favor of idebenone for the tritan color domain and 13.5% (P = 0.067) for the protan domain. CONCLUSION: This study confirms that protan and tritan color confusion is an early symptom in LHON. Treatment with idebenone can protect from loss of color vision, particularly in patients who are at imminent risk of further vision loss.
Subject(s)
Antioxidants/therapeutic use , Color Perception/physiology , Optic Atrophy, Hereditary, Leber/drug therapy , Pigmentation Disorders/congenital , Skin Diseases, Genetic/drug therapy , Ubiquinone/analogs & derivatives , Adolescent , Adult , Double-Blind Method , Female , Humans , Male , Middle Aged , Optic Atrophy, Hereditary, Leber/complications , Optic Atrophy, Hereditary, Leber/physiopathology , Pigmentation Disorders/drug therapy , Pigmentation Disorders/etiology , Pigmentation Disorders/physiopathology , Skin Diseases, Genetic/etiology , Skin Diseases, Genetic/physiopathology , Treatment Outcome , Ubiquinone/therapeutic useABSTRACT
The article is devoted the study of role of the phenomenon of coronal arterial tortuosity in pathogeny of ischemic heart disease. For 89% patients with a cardiac pain and coronal arterial tortuosity at which at a conservative cardiologic inspection it was not discovered signs of organic defeat of heart and coronal vessels, by the high-specific functional methods of research and stress-tests the presence of cardial ischemia is set. Accordance localization of ischemic areas of myocardium is also exposed to the areas of vascularization by the coronal tortuosity arteries. Among all inspected persons with the coronal arterial tortuosity 21.7% belonged to the group of workers the profession of which is related to the combined action of local vibration and industrial noise.