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1.
Dermatol Online J ; 26(2)2020 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-32239889

RESUMO

Transient acantholytic dermatosis (TAD) is a relatively common entity that has been also noted to occur in patients with cancer. Herein, we describe a case of transient acantholytic dermatosis occurring in a patient with a history of prostate cancer status post radiation, now being treated with combination therapy with pembrolizumab and carboplatin-pemetrexed for advanced lung adenocarcinoma. Our case emphasizes the importance of being cognizant of TAD and its associations, particularly in cancer patients.


Assuntos
Acantólise/etiologia , Adenocarcinoma/complicações , Anticorpos Monoclonais Humanizados/administração & dosagem , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Ictiose/etiologia , Neoplasias Pulmonares/complicações , Acantólise/patologia , Adenocarcinoma/tratamento farmacológico , Idoso , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Carboplatina/administração & dosagem , Diagnóstico Diferencial , Humanos , Ictiose/patologia , Neoplasias Pulmonares/tratamento farmacológico , Masculino , Pemetrexede/administração & dosagem , Neoplasias da Próstata/complicações , Neoplasias da Próstata/radioterapia , Pele/patologia
2.
Dermatol Online J ; 26(2)2020 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-32239892

RESUMO

Grover disease (GD) is an acquired, nonfamilial, nonimmune mediated, transient or persistent acantholytic dermatosis. Herein, we present a 72-year-old man who had clinical and histopathologic findings of GD following two weeks of treatment with vemurafenib without MEK inhibitor. The patient was successfully treated with topical emollients and a high-potency corticosteroid. Meanwhile, vemurafenib was temporarily discontinued. Drug-induced GD has increasingly been reported in patients on BRAF inhibitor monotherapy as an immune-related adverse event. The cutaneous side effects seem to arise secondary to a paradoxical activation of the mitogen-activated protein kinase signaling of BRAF inhibitor treatment, leading to keratinocyte proliferation. Although the pathogenesis of GD has not been delineated, there is suggestion of activation of T lymphocytes, particularly helper cells under the action of pro-inflammatory cytokines, resulting in proliferation of keratinocytes. Combination therapy with a MEK inhibitor appears to prevent BRAF-induced GD. Given that there is a higher prevalence of GD in patients with hematologic malignancy, a direct causal relationship between the initiation of vemurafenib therapy and development of GD in this case may be difficult to establish.


Assuntos
Acantólise/induzido quimicamente , Ictiose/induzido quimicamente , Leucemia de Células Pilosas/complicações , Inibidores de Proteínas Quinases/efeitos adversos , Vemurafenib/efeitos adversos , Acantólise/patologia , Idoso , Biópsia/métodos , Humanos , Ictiose/patologia , Leucemia de Células Pilosas/tratamento farmacológico , Masculino , Inibidores de Proteínas Quinases/uso terapêutico , Proteínas Proto-Oncogênicas B-raf/antagonistas & inibidores , Indução de Remissão , Pele/patologia , Vemurafenib/uso terapêutico
4.
Proc Natl Acad Sci U S A ; 117(6): 2914-2922, 2020 02 11.
Artigo em Inglês | MEDLINE | ID: mdl-31974308

RESUMO

The epidermis-specific lipid acylceramide plays a pivotal role in the formation of the permeability barrier in the skin; abrogation of its synthesis causes the skin disorder ichthyosis. However, the acylceramide synthetic pathway has not yet been fully elucidated: Namely, the acyl-CoA synthetase (ACS) involved in this pathway remains to be identified. Here, we hypothesized it to be encoded by FATP4/ACSVL4, the causative gene of ichthyosis prematurity syndrome (IPS). In vitro experiments revealed that FATP4 exhibits ACS activity toward an ω-hydroxy fatty acid (FA), an intermediate of the acylceramide synthetic pathway. Fatp4 knockout (KO) mice exhibited severe skin barrier dysfunction and morphological abnormalities in the epidermis. The total amount of acylceramide in Fatp4 KO mice was reduced to ∼10% of wild-type mice. Decreased levels and shortening of chain lengths were observed in the saturated, nonacylated ceramides. FA levels were not decreased in the epidermis of Fatp4 KO mice. The expression levels of the FA elongase Elovl1 were reduced in Fatp4 KO epidermis, partly accounting for the reduction and shortening of saturated, nonacylated ceramides. A decrease in acylceramide levels was also observed in human keratinocytes with FATP4 knockdown. From these results, we conclude that skin barrier dysfunction observed in IPS patients and Fatp4 KO mice is caused mainly by reduced acylceramide production. Our findings further elucidate the molecular mechanism governing acylceramide synthesis and IPS pathology.


Assuntos
Ceramidas/metabolismo , Epiderme/metabolismo , Proteínas de Transporte de Ácido Graxo/metabolismo , Ictiose/metabolismo , Doenças do Prematuro/metabolismo , Animais , Ceramidas/química , Proteínas de Transporte de Ácido Graxo/genética , Ácidos Graxos/química , Ácidos Graxos/metabolismo , Feminino , Humanos , Ictiose/genética , Doenças do Prematuro/genética , Masculino , Camundongos Knockout , Permeabilidade , Pele/metabolismo
5.
Int J Mol Sci ; 20(21)2019 Oct 30.
Artigo em Inglês | MEDLINE | ID: mdl-31671507

RESUMO

Claudins are key components of the tight junction, sealing the paracellular cleft or composing size-, charge- and water-selective paracellular channels. Claudin-10 occurs in two major isoforms, claudin-10a and claudin-10b, which constitute paracellular anion or cation channels, respectively. For several years after the discovery of claudin-10, its functional relevance in men has remained elusive. Within the past two years, several studies appeared, describing patients with different pathogenic variants of the CLDN10 gene. Patients presented with dysfunction of kidney, exocrine glands and skin. This review summarizes and compares the recently published studies reporting on a novel autosomal-recessive disorder based on claudin-10 mutations.


Assuntos
Claudinas/genética , Claudinas/metabolismo , Nefropatias/genética , Mutação , Predisposição Genética para Doença , Humanos , Hipo-Hidrose/genética , Ictiose/genética , Nefropatias/metabolismo , Doenças do Aparelho Lacrimal/genética , Domínios Proteicos , Xerostomia/genética
6.
Adv Skin Wound Care ; 32(10): 1-6, 2019 10.
Artigo em Inglês | MEDLINE | ID: mdl-31567454

RESUMO

A 14-year-old girl with a history of keratitis-ichthyosis-deafness (KID) syndrome, a rare autosomal dominant condition, was referred to the Department of Plastic Surgery at Brussels University Hospital in June 2016 for progressively worsening inguinoperineal ulceration exacerbated by overapplication of combination drug treclinax (tretinoin and erythromycin). On assessment, a large area of purulent papillomatous hyperkeratosis with follicular plugging, likely superimposed bacterial colonization, and deep ulceration were noted requiring thorough debridement.A first procedure was performed in June 2016 with hydrosurgical debridement (Versajet IITM; Smith & Nephew, Forth Worth, Texas). During the procedure, significant blood loss was noted, and topical adrenaline, blood transfusion, and a short ICU stay were required for monitoring during which the patient remained hemodynamically stable. The wound was primarily dressed with an antimicrobial barrier silver dressing; meropenem, ceftazidime, and fluconazole were started to treat for Gram-negative, Gram-positive, and anaerobic bacilli, as well as Pseudomonas aeruginosa and fungal infections in situ. A further three debridements were required 6, 12, and 26 days after the initial procedure. The patient was discharged 36 days after admission without any antibiotics and with an outpatient wound care plan.Not only was this case rare, but it also reflected the importance of a careful approach when tackling KID syndrome's cutaneous manifestations. Multiple debridements, thorough wound care, and appropriate antibiotic therapy may be required to achieve local healing and a satisfactory result. Hydrosurgical debridement offered a precise and well-controlled method for treating a large ulcerating hyperkeratotic urogenital lesion in this pediatric patient.


Assuntos
Surdez/cirurgia , Desbridamento/métodos , Ictiose/cirurgia , Ceratite/cirurgia , Infecção da Ferida Cirúrgica/prevenção & controle , Cicatrização/fisiologia , Adolescente , Feminino , Humanos , Resultado do Tratamento
7.
Am J Hum Genet ; 105(5): 1023-1029, 2019 11 07.
Artigo em Inglês | MEDLINE | ID: mdl-31630788

RESUMO

We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic mutations in AP1B1, the gene encoding the ß subunit of heterotetrameric adaptor protein 1 (AP-1) complexes, which mediate endomembrane polarization, sorting, and transport. In affected keratinocytes the AP-1 ß subunit is lost, and the γ subunit is greatly reduced, demonstrating destabilization of the AP-1 complex. Affected cells and tissue contain an abundance of abnormal vesicles and show hyperproliferation, abnormal epidermal differentiation, and derangement of intercellular junction proteins. Transduction of affected cells with wild-type AP1B1 rescues the vesicular phenotype, conclusively establishing that loss of AP1B1 function causes this disorder.


Assuntos
Complexo 1 de Proteínas Adaptadoras/genética , Subunidades beta do Complexo de Proteínas Adaptadoras/genética , Surdez/genética , Genes Recessivos/genética , Ictiose/genética , Mutação/genética , Fotofobia/genética , Diferenciação Celular/genética , Proliferação de Células/genética , Feminino , Perda Auditiva/genética , Humanos , Masculino , Fenótipo , Subunidades Proteicas/genética , Transporte Proteico/genética , Trombocitopenia/genética
8.
Stomatologiia (Mosk) ; 98(4): 93-95, 2019.
Artigo em Inglês, Russo | MEDLINE | ID: mdl-31513158

RESUMO

The paper presents a rare clinical case of an infant with KID (Keratitis, Ichthyosis, Deafness) syndrome (about 100 patients reported so far) admitted for histological verification of oral mucosa lesions. Disease pathogenesis defines inadequate reparation and skin and mucosa innate immunity defect leading to higher incidence of bacterial and fungal infections, so the 4-years old girl received treatment for vegetating candidiasis of the oral mucosa for several weeks with no clinical improvement. Initial examination showed that the oral lesions resulted from sharp edges of severely affected carious teeth. Histological study of multifocal biopsy revealed pyogenic granulomas and no signs of SCC. Teeth extraction and symptomatic treatment leaded to significant clinical improvement and some remained mucosal changes may be attributed to syndrome manifestations.


Assuntos
Surdez , Cárie Dentária , Ictiose , Ceratite , Doenças da Boca , Pré-Escolar , Surdez/complicações , Cárie Dentária/etiologia , Feminino , Humanos , Ictiose/complicações , Ceratite/complicações , Doenças da Boca/etiologia , Neoplasias Cutâneas
10.
Acta Dermatovenerol Croat ; 27(3): 192-194, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31542066

RESUMO

Dear Editor, It is not unusual for patients with renal insufficiency to develop skin pathologies. There are reports in the literature of increased incidence of calciphylaxis, pruritus, perforating dermatoses, and porphyria cutanea tarda in this patient population (1). Although it is quite rare, Grover's disease (GD) has been reported in several patients with renal insufficiency, but only once in a renal transplant recipient (2). The disease follows three patterns: persistently pruritic, transient eruptive, or a chronic asymptomatic course (3). Common risk factors concomitant with disease prevalence are immunosuppression, HIV, hemodialysis, viral and bacterial infections, malignancies, and other skin pathologies like contact and atopic dermatitis (4). A 60-year-old woman had a family history of polycystic kidney disease and was subsequently diagnosed in 1997. The patient had concomitant hepatic involvement and a stable aneurysm of the anterior cerebral artery. Consequently, the patient preemptively received a kidney transplant in 2015. The immunosuppressive therapy consisted of tacrolimus, mycophenolate mofetil, and prednisone with basiliximab induction. In 2017, a biopsy of the right thigh demonstrated squamous cell carcinoma in situ measuring 1×1cm in size. The lesion was treated with surgical excision. The patient also exhibited an erythematous brown macule with undefined borders on the left side of the nose with a size of 12 mm; it was later determined to be actinic keratosis. The lesion was treated successfully with cryotherapy. During this period, a fever prompted a PCR for BK virus DNA which showed a substantial amount of copies, measuring 28,850 copies/mL in urine and 98 copies/mL in blood. The mycophenolate dose was reduced, and tacrolimus trough concentration was maintained at between 3 and 5 µg/L. In 2018 the patient presented with multiple pruritic erythematous papules located on the trunk. Upon histological biopsy, there was dominant suprabasal acantholysis with numerous cells separating from the epithelium. Furthermore, there was a moderate amount of mononuclear infiltrate in the upper portion of the dermis and sparse suprabasal clefts (Figure 1). Clinical presentation and histologic examination were consistent with Grover's disease. The patient was treated topically with betamethasone cream twice daily for four weeks. The skin changes persisted for only a few weeks. The pathophysiological mechanism causing GD is still unknown. It is usually only a transient skin condition that lasts no more than a few weeks, but there have been more chronic cases lasting for years, particularly in patients on hemodialysis (5). The lesions commonly affect the chest area but may spread to diffusely envelope the body as erythematous papules, pustules, lichenoid lesions, or vesicles (2). Grover characterized 4 different subtypes based on the pathohistological findings as Darier-like (the most common), pemphigus vulgaris-like, Hailey-Hailey-like, or spongiotic subtype (3). The histological patterns are not exclusive to one patient and may even be found concomitantly in a single lesion. The condition is definitively diagnosed through histology, showing distinctive acantholysis along the epidermis with dyskeratosis that is described as "corps ronds" and "grains" (3). Grover's disease is more prevalent in middle-aged Caucasian men than any other group, with a 1.6-2.1 gender ratio (6). It was originally thought that the disease was caused by dysfunctional eccrine sweat glands, as the ailment was more common in patients that had increased perspiration either due to environmental heat, fever, or extensive bedrest. This idea was reinforced by histological evidence of atrophied sweat glands in uremic patients with renal insufficiency (7). Moreover, a case series and case report described remissions of GD in their patients on hemodialysis that received a renal transplant (5,8). However, subsequent studies have not supported an association with sweat dysfunction and disease development, while others have only managed to attribute sweat gland dysfunction as the primary trigger in 20-30% of cases (9). Conversely, cold dry air and xerosis cutis is thought to trigger the disease because it is four times more likely to be diagnosed in the winter months (10). Ultraviolet radiation has been identified as an exacerbating factor for GD, which could have been the trigger for onset of disease in our patient as demonstrated by her squamous cell carcinoma and actinic keratosis (11). Despite immunosuppression being a risk factor for GD, as shown by its association in patients with HIV, bone marrow transplantation, hemodialysis, and hematological malignancies, GD has been reported only once in the literature after a renal transplant (2,4). As our case, that patient developed GD a few years after transplant without an obvious trigger and the lesions appeared as red papules that were disseminated over the anterior thorax. Their patient's cutaneous lesion resolved spontaneously after 2 weeks and never returned in the 2.5-year follow-up period. Their patient has had two renal allografts over a 20 year timespan, while ours had had her graft for only two years. The immunosuppressive regimen was slightly different: cyclosporine, azathioprine, and methylprednisolone versus our combination of tacrolimus, mycophenolate mofetil, and prednisone. Grover's disease can be treated conservatively by avoiding risk factors such as UV light and sweating as well as and applying moisturizing emollients which may cause the lesion to resolve spontaneously. Medical therapy consists of topic corticosteroids, topical vitamin D analogues, oral retinoids, and oral corticosteroids, PUVA, and methotrexate for resistant cases (6,12). When a patient exhibits pruritic papules of the skin, GD should be considered in differential diagnosis, especially in kidney transplant patients and those on hemodialysis. While the condition is rare, increased recognition in this patient population will allow for studies to further characterize this poorly understood disease.


Assuntos
Acantólise/diagnóstico , Ictiose/diagnóstico , Transplante de Rim , Doenças Renais Policísticas/cirurgia , Acantólise/etiologia , Acantólise/terapia , Feminino , Humanos , Ictiose/etiologia , Ictiose/terapia , Pessoa de Meia-Idade , Doenças Renais Policísticas/complicações
11.
Int J Mol Sci ; 20(15)2019 Aug 02.
Artigo em Inglês | MEDLINE | ID: mdl-31382467

RESUMO

Xeroderma is a frequent complication in diabetic patients. In this study, we investigated the mechanism underlying the onset of diabetic xeroderma, focusing on aquaporin-3 (AQP3), which plays an important role in water transport in the skin. Dermal water content in diabetic mice was significantly lower than that in control mice. The expression level of AQP3 in the skin was significantly lower in diabetic mice than in control mice. One week after streptozotocin (STZ) treatment, despite their increased blood glucose levels, mice showed no changes in the expression levels of AQP3, Bmal1, Clock, and D site-binding protein (Dbp) in the skin and 8-hydroxydeoxyguanosine (8-OHdG) in the urine. In contrast, two weeks after STZ treatment, mice showed increases in the blood glucose level, decreases in AQP3, Bmal1, Clock, and Dbp levels, and increases in the urinary levels of 8-OHdG. The results of this study suggest that skin AQP3 expression decreases in diabetes, which may limit water transport from the vessel side to the corneum side, causing dry skin. In addition, in diabetic mice, increased oxidative stress triggered decreases in the expression levels of Bmal1 and Clock in the skin, thereby inhibiting the transcription of Aqp3 by Dbp, which resulted in decreased AQP3 expression.


Assuntos
Aquaporina 3/metabolismo , Diabetes Mellitus Experimental/complicações , Ictiose/etiologia , Água/metabolismo , Animais , Aquaporina 3/análise , Glicemia/análise , Glicemia/metabolismo , Diabetes Mellitus Experimental/metabolismo , Diabetes Mellitus Experimental/patologia , Modelos Animais de Doenças , Ingestão de Líquidos , Ictiose/metabolismo , Ictiose/patologia , Masculino , Camundongos , Camundongos Pelados , Pele/metabolismo , Pele/patologia , Estreptozocina , Água/análise
12.
Internist (Berl) ; 60(8): 775-782, 2019 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-31273399

RESUMO

Various specific skin alterations can occur in patients with malignant diseases. If these skin diseases occur as associated symptoms of a malignant process, they are called paraneoplastic. In this overview, obligate and frequent facultative paraneoplastic skin diseases are assigned according to the triggering type of malignancy. Some of the processes predominantly show a link with malignant diseases of the digestive tract, e.g. acanthosis nigricans, florid cutaneous papillomatosis, necrolytic migratory erythema, Leser-Trélat syndrome, palmoplantar keratoderma, panniculitis and pityriasis rubra pilaris. Others are predominantly associated with a hematolymphoid malignoma, e.g. acquired ichthyosis, exfoliative erythroderma, necrobiotic xanthogranuloma, paraneoplastic pemphigus, plane xanthoma, pyoderma gangrenosum, scleromyxedema, Sweet syndrome and leukocytoclastic vasculitis. In a third group paraneoplastic skin diseases are pooled in association with other malignancies, e.g. Trousseau's syndrome, dermatomyositis, erythema gyratum repens, hypertrichosis lanuginosa acquisita and papuloerythroderma of Ofuji. In order to initiate targeted diagnostics for detection of an underlying malignant disease, it is essential that accomplished physicians recognize the skin diseases that represent obligate or potential paraneoplasms as such.


Assuntos
Acantose Nigricans/patologia , Dermatomiosite/patologia , Síndromes Paraneoplásicas/patologia , Dermatopatias/patologia , Eritema/patologia , Humanos , Ictiose/patologia , Dermatopatias/etiologia
13.
Hum Mutat ; 40(12): 2318-2333, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31347739

RESUMO

Autosomal recessive congenital ichthyosis (ARCI) belongs to a heterogeneous group of disorders of keratinization. To date, 10 genes have been identified to be causative for ARCI. NIPAL4 (Nipa-Like Domain-Containing 4) is the second most commonly mutated gene in ARCI. In this study, we present a large cohort of 101 families affected with ARCI carrying mutations in NIPAL4. We identified 16 novel mutations and increase the total number of pathogenic mutations in NIPAL4 to 34. Ultrastructural analysis of biopsies from six patients showed morphological abnormalities consistent with an ARCI EM type III. One patient with a homozygous splice site mutation, which leads to a loss of NIPAL4 mRNA, showed additional ultrastructural aberrations together with a more severe clinical phenotype. Our study gives insights into the frequency of mutations, a potential hot spot for mutations, and genotype-phenotype correlations.


Assuntos
Ictiose/genética , Ictiose/patologia , Mutação , Receptores de Superfície Celular/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Biópsia , Linhagem Celular , Feminino , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Receptores de Superfície Celular/química , Análise de Sequência de DNA , Adulto Jovem
15.
J Eur Acad Dermatol Venereol ; 33(11): 2095-2100, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31062435

RESUMO

BACKGROUND: From clinical experience, we know that itch is a major concern for many ichthyosis patients. Nonetheless, no previous studies specifically addressed the issue of itch in ichthyosis. OBJECTIVE: The objective of this study was to specifically address the burden of itch and all its dimensions in ichthyosis patients. METHODS: Ninety-four ichthyosis patients from four different centres were recruited to participate in this cross-sectional, questionnaire-based study. All participants completed the Leuven Itch Scale, a multidimensional self-report instrument that quantifies the frequency, duration, severity, distress, consequences and surface area of itch. RESULTS: Participants included 18 keratinopathic types, 55 autosomal recessive congenital ichthyoses, 11 X-linked recessive ichthyoses (XLRIs), 6 Netherton's ichthyoses, 1 Sjögren-Larsson type, 1 Iocrin ichthyosis and 2 unknown subtypes. Itch occurred in 93% of all patients. In patients with itch, 63% reported that it was often or always present, although most itch episodes were short in duration. Itch, in all its dimensions, was worst in patients with Netherton syndrome. Patients with XLRI had in general a lower itch profile. About half of all ichthyosis patients reported to experience flares during a change in weather, in a hot environment or in stressful situations, whereas a cold environment led to itch in only 26% of patients. The most significant consequences of itching were lesions from scratching, difficulties in falling asleep, bad mood and loss of concentration. CONCLUSIONS: Itch is a major concern in patients with ichthyosis, with significant impact on daily life. Research on future treatments should therefore take itch into consideration and itch should be evaluated in clinical studies. Among the studied subgroups, Netherton patients experienced the most severe consequences.


Assuntos
Ictiose/complicações , Prurido/etiologia , Adolescente , Adulto , Idoso , Estudos Transversais , Autoavaliação Diagnóstica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prurido/complicações , Prurido/diagnóstico , Adulto Jovem
16.
J Cutan Pathol ; 46(8): 623, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31070271
17.
Am J Dermatopathol ; 41(10): 744-746, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31094720

RESUMO

The differential diagnosis of Grover disease (GD) includes pemphigus foliaceus. However, the focal nature of the histologic findings and negative direct immunofluorescent point to the diagnosis of GD. It has been associated with a variety of systemic and cutaneous diseases, but its association with other primary acantholytic disorders has been rarely documented. In this article, we describe the first case of GD in association with pemphigus foliaceus.


Assuntos
Acantólise/complicações , Carcinoma Basocelular/complicações , Ictiose/complicações , Pênfigo/complicações , Neoplasias Cutâneas/complicações , Carcinoma Basocelular/cirurgia , Feminino , Humanos , Pessoa de Meia-Idade , Neoplasias Cutâneas/cirurgia
19.
Arq Bras Oftalmol ; 82(4): 345-353, 2019 05 20.
Artigo em Inglês | MEDLINE | ID: mdl-31116320

RESUMO

Cicatricial ectropion may be a consequence of certain systemic diseases as well as the result of drug use. Our goal here was to research the different causes of this condition as reported in the literature, including more recently suspected etiologies. A detailed PubMed literature search indicated many different etiologies were associated with cicatricial ectropion development, from severe cases of systemic diseases, such as ichthyosis and lupus erythematosus, to reversible scenarios secondary to anti-glaucomatous drug use. More recently reported connections include periorbital necrotizing fasciitis, frontal osteomyelitis, and antineoplastic agents. Indeed, cicatricial ectropion may be highly symptomatic; being able to determine its real etiology is imperative to managing patients properly. In this investigation, we felt that an explicitly multidisciplinary approach was essential, especially for cases associated with systemic conditions.


Assuntos
Cicatriz/etiologia , Cicatriz/patologia , Ectrópio/etiologia , Ectrópio/patologia , Artrite Psoriásica/complicações , Pálpebras/patologia , Humanos , Ictiose/complicações , Lúpus Eritematoso Cutâneo/complicações
20.
Hautarzt ; 70(7): 497-505, 2019 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-31087125

RESUMO

Approximately 9000 different phenotypes are known in medicine. The definition phenotype includes both manifest diseases as well as features without any disease value and the pure genetic disposition to develop a disease (e.g. tumors or complex diseases); however, most phenotypes are rare monogenic hereditary diseases. Approximately 6400 of these phenotypes have so far been elucidated by molecular genetics and are caused by mutations in 4064 different genes. Of all genetic diseases, an estimated one third are associated with skin symptoms. Genodermatoses are the phenotypes predominantly related to the skin, of which approximately 600 are familiar to dermatologists. The syndromes with scaling and keratosis include cornification disorders where the symptoms are not limited to the skin. They are associated with skin symptoms such as ichthyosis, erythroderma and palmoplantar keratoderma but show additional symptoms from other organ groups. The typical combination of symptoms may be unique to a syndrome and therefore seminal for the diagnosis.


Assuntos
Neoplasias Ósseas , Condromatose , Ictiose , Ceratodermia Palmar e Plantar , Ceratose , Mutação/genética , Síndromes Neoplásicas Hereditárias , Neoplasias Ósseas/genética , Neoplasias Ósseas/patologia , Condromatose/genética , Condromatose/patologia , Humanos , Ictiose/genética , Ictiose/patologia , Ceratodermia Palmar e Plantar/genética , Ceratodermia Palmar e Plantar/patologia , Ceratose/genética , Ceratose/patologia , Síndromes Neoplásicas Hereditárias/genética , Síndromes Neoplásicas Hereditárias/patologia , Pele , Síndrome
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